Information on CHAI

Basic details

Name: CTLA4 haploinsufficiency with autoimmune infiltration | Acronym: CHAI
Alt. names: CTLA4 deficiency | CHAI disease | autoimmune lymphoproliferative syndrome type V | ALPS type 5 | ALPS type V | Autoimmune lymphoproliferative syndrome, type V

Gene: CTLA4 | MOI: Autosomal dominant | Mechanism of action: Haploinsufficiency

No. of cases in DB: 267 | First reported in: 2014

Last updated on: 2023-08-25 22:39:22 by Andrés Caballero-Oteyza

OMIM: 616100

Orphanet: -

MONDO: 0014493

DOID: -

ClinGen: Definitive (2021-04-28)

Description

Autoimmune lymphoproliferative syndrome type V is an autosomal dominant complex immune disorder characterized by autoimmune thrombocytopenias and abnormal lymphocytic infiltration of nonlymphoid organs, including the lungs, brain, and gastrointestinal tract, resulting in enteropathy. Some patients may show features of an immunodeficiency syndrome with recurrent infections, but immunosuppressive therapy often results in clinical improvement (Kuehn et al., 2014)

Management

Medical treatment (with immunosuppression) has been described as beneficial. The condition may involve frequent infections, and awareness may allow preventive measures and early and aggressive treatment of infections.

Please mind that full curation of this condition has not been completed yet. It is currently ongoing.

267 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code
101015arrow icon M 210203 38 14 Germany German PMID:30250467 [Fam.MM:II.1]; PMID:29729943 [Fam.MM:II.1(87)]; PMID:34975878 [Fam.F002:P002]; PMID:31857261 [Patient 3]
101036arrow icon F 210182tree icon 56 45 Definitive Germany Caucasian PMID:25329329 [Fam.B:II.2(II.1)]; PMID:29729943 [Fam.B:II.2(B.II.1 (13))]; PMID:34975878 [Fam.F014:III.2(P014)]; PMID:27418640 [P12(5)]; PMID:37740092 [P01]
101037arrow icon M 210182tree icon 49 49 Germany Caucasian PMID:25329329 [Fam.B:II.4(II.3)]; PMID:30250467 [B.II.3]; PMID:29729943 [Fam.B:II.4(B.II.3 (15))]; PMID:27418640 [P13(5)]
101038arrow icon F 210182tree icon 43 34 Germany Caucasian PMID:25329329 [Fam.B:II.6(II.4)]; PMID:30250467 [B.II.4]; PMID:29729943 [Fam.B:II.6(B.II.4 (16))]; PMID:34975878 [Fam.F014:III.6(P015)]; PMID:27418640 [P14(5)]
101039arrow icon F 210182tree icon 17 Germany Caucasian PMID:25329329 [Fam.B:III.3(III.3)]; PMID:29729943 [Fam.B:III.4(B.III.3 (18))]
101040arrow icon F 210724tree icon 20 9 Germany Caucasian PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15]
101041arrow icon M 210724tree icon 47 Germany Caucasian PMID:29729943 [Fam.GG:I.1(78)]
101042arrow icon M 210724tree icon 18 Germany Caucasian PMID:29729943 [Fam.GG:II.2(80)]
101043arrow icon M 210725tree icon 26 7 Definitive Germany Caucasian PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017]
101044arrow icon F 210725tree icon 52 22 Germany Caucasian PMID:29729943 [Fam.H:I.2(28)]
101045arrow icon M 210205tree icon 19 15 Germany Caucasian PMID:25329329 [Fam.A:III.13(III.3)]; PMID:29729943 [Fam.A:III.3(9)]; PMID:34975878 [Fam.F018:III.2(P018)]; PMID:27418640 [P11(5)]
101046arrow icon F 210205tree icon 86 Germany Caucasian PMID:25329329 [Fam.A:I.2(I.2)]; PMID:29729943 [Fam.A:I.2(A.I.2 (1))]
101047arrow icon F 210205tree icon 58 Germany Caucasian PMID:25329329 [Fam.A:II.5(II.3)]; PMID:29729943 [Fam.A:II.5(A.II.3 (3))]
101048arrow icon M 210205tree icon 48 Germany Caucasian PMID:25329329 [Fam.A:II.18(II.10)]; PMID:29729943 [Fam.A:II.18(A.II.10 (7))]
101049arrow icon F 210205tree icon 22 Refuted Germany Caucasian PMID:25329329 [Fam.A:III.15(III.5)]; PMID:29729943 [Fam.A:III.15(A.III.5 (10))]
101050arrow icon F 210205tree icon 19 Germany Caucasian PMID:25329329 [Fam.A:III.16(III.6)]; PMID:29729943 [Fam.A:III.6(A.III.6 (11))]; PMID:34975878 [Fam.F018:III.5(P020)]
101051arrow icon F 210205tree icon 27 10 Germany Caucasian PMID:25329329 [Fam.A:III.5(III.1)]; PMID:30250467 [A.III.1]; PMID:29729943 [Fam.A:III.5(A.III.1 (8))]; PMID:34975878 [Fam.F018:III.1(P021)]; PMID:27418640 [P10(5)]
101087arrow icon M 211335 35 Possible Germany German PMID:34975878 [Fam.F053:P053]
101090arrow icon M 211257 41 38 Germany PMID:34975878 [Fam.F056:P056]; PMID:37740092 [P13]
101128arrow icon M 210897 24 18 Germany Caucasian PMID:29729943 [Fam.OO:II.1(95)]; PMID:37740092 [P07]
101155arrow icon M 210235 27 10 Germany German PMID:30250467 [JJ.II.I]; PMID:29729943 [Fam.JJ:II.1(83)]; PMID:34975878 [Fam.F098:P098]
101199arrow icon F 211483 14 3 Disputed Germany German PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122]
101228arrow icon M 210205tree icon 59 Germany Caucasian PMID:25329329 [Fam.A:II.3(II.2)]; PMID:29729943 [Fam.A:II.3(A.II.2 (2))]
101401arrow icon F 210205tree icon 0 17 Germany Caucasian PMID:25329329 [Fam.A:II.17(II.9)]; PMID:29729943 [Fam.A:II.17(A.II.9 (6))]; PMID:27418640 [P9(5)]
101425arrow icon M 210205tree icon 55 41 Germany Caucasian PMID:25329329 [Fam.A:II.8(II.5)]; PMID:29729943 [Fam.A:II.8(A.II.5 (4))]; PMID:27418640 [P7(5)]
101458arrow icon F 210656 22 10 Germany Georgian PMID:25329329 [Fam.E:II.3(II.3)]; PMID:29729943 [Fam.E:II.3(E.II.3 (23))]; PMID:27418640 [P19(5)]
101578arrow icon M 210205tree icon 51 12 Germany German PMID:25329329 [Fam.A:II.14(II.8)]; PMID:29729943 [Fam.A:II.14(A.II.8 (5))]; PMID:27418640 [P8(5)]
101628arrow icon F 210955 16 Germany Caucasian PMID:29729943 [Fam.ZZ:I.2(128)]; PMID:34975878 [Fam.F217:P217]
101717arrow icon F 210260 20 7 Greece Caucasian PMID:25329329 [Fam.C:II.3(II.3)]; PMID:29729943 [Fam.C:II.3(C.II.3 (19))]; PMID:27418640 [P16(5)]
101718arrow icon F 210260 13 Greece Caucasian PMID:25329329 [Fam.C:II.4(II.4)]; PMID:29729943 [Fam.C:II.4(C.II.4 (20))]; PMID:27418640 [P17(5)]
101722arrow icon F 210261 22 10 United Kingdom Asian PMID:25329329 [Fam.D:II.1(II.1)]; PMID:29729943 [Fam.D:II.1(D.II.1 (22))]; PMID:27418640 [P18(5)]
101723arrow icon F 210261 43 United Kingdom Asian PMID:25329329 [Fam.D:I.2(I.2)]; PMID:29729943 [Fam.D:I.2(D.I.2 (21))]
101726arrow icon M 210182tree icon 23 15 Germany Caucasian PMID:25329329 [Fam.B:II.3(II.2)]; PMID:29729943 [Fam.B:II.3(B.II.2 (14))]
101744arrow icon F 210182tree icon 16 10 Germany Caucasian PMID:25329329 [Fam.B:III.2(III.2)]; PMID:29729943 [Fam.B:III.3(B.III.2 (17))]; PMID:27418640 [P15(5)]
101760arrow icon F 210724tree icon 14 Germany Caucasian PMID:29729943 [Fam.GG:II.3(81)]
101792arrow icon M 210991 23 18 Uruguay Caucasian PMID:29729943 [Fam.NN:II.11(NN.II.9(92))]
101797arrow icon M 211108 31 13 Germany Caucasian PMID:29729943 [Fam.QQ:II.1(97)]; PMID:34975878 [Fam.F258:P258]
101799arrow icon M 211120 40 12 Belgium Caucasian PMID:30250467 [Fam.XX:II.1]; PMID:29729943 [Fam.XX:II.1(126)]
101801arrow icon M 211151 23 7 Definitive Germany PMID:34975878 [Fam.F260:P260]; PMID:37740092 [P20]
101832arrow icon F 210182tree icon 38 Germany German PMID:25329329 [Fam.B:III.1(III.1)]; PMID:29729943 [Fam.B:III.2(B.III.1)]
101915arrow icon F 211935 50 32 Germany PMID:34975878 [Fam.F341:P341]
102157arrow icon F 214681 44 24 Italy Caucasian PMID:29729943 [Fam.R:II.5(45)]
102175arrow icon M 210725tree icon 21 10 Germany Caucasian PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)]
102182arrow icon F 214681 18 Italy Caucasian PMID:29729943 [Fam.R:III.1(46)]
104786arrow icon F 215573tree icon 22 PMID:25213377 [Fam.A:II.1(A.II.1)]; PMID:27418640 [P2(4)]
104787arrow icon M 215573tree icon 43 PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)]
104790arrow icon M 215574tree icon 38 PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)]
104791arrow icon M 215575tree icon 23 PMID:25213377 [Fam.C:II.1(C.II.1)]; PMID:27418640 [P4(4)]
104792arrow icon F 215575tree icon PMID:25213377 [Fam.C:I.2(C.I.1)]
104794arrow icon F 215577tree icon 77 PMID:25213377 [Fam.D:I.2(D.I.1)]
104795arrow icon M 215577tree icon PMID:25213377 [Fam.D:II.1(D.II.2)]
104796arrow icon M 215577tree icon 46 PMID:25213377 [Fam.D:II.4(D.II.1)]; PMID:27418640 [P5(4)]
104797arrow icon M 215577tree icon 11 PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)]
104838arrow icon M 215578 8 8 Germany Caucasian PMID:25329329 [Fam.F:II.2(F.II.2)]; PMID:29729943 [Fam.F:F.II.1 (24)]; PMID:27418640 [P20(5)]; PMID:34619682 [P.56]
104886arrow icon F 215613tree icon 24 12 U.S.A. Caucasian PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)]
104889arrow icon F 215613tree icon 53 U.S.A. Caucasian PMID:29729943 [Fam.G:II.2(G.II.1 (25))]; PMID:25367873 [Fam.1:II.6(II.6)]
104916arrow icon M 215613tree icon 22 2 U.S.A. Caucasian PMID:30250467 [G.III.2]; PMID:29729943 [Fam.G:III.2(G.III.2 (27))]; PMID:25367873 [Fam.1:III.5(III.5)]
105043arrow icon F 215630tree icon 17 1 U.S.A. Caucasian PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))]
105044arrow icon F 215630tree icon U.S.A. Caucasian PMID:27379089 [Fam.P9:I.1(mother)]
105045arrow icon M 215631tree icon 24 14 U.S.A. Caucasian PMID:27379089 [P10]
105088arrow icon M 215638 35 10 Japan Japanese PMID:26644313 [II.3(II.3)]; PMID:30250467 [M.II.3]; PMID:29729943 [Fam.M:II.3(M.II.3 (37))]; PMID:27418640 [P21(II.3)]; PMID:35087518 [11.1]
105103arrow icon F 215641 14 0 South Korea South Korean PMID:26478010 [III.2(III.2)]
105172arrow icon M 215659 22 2 United Kingdom Caucasian PMID:29729943 [Fam.T:II.1(T.II.1 (48))]; PMID:27102614 [Fam.A:II.1(1)]
105175arrow icon M 215660 15 10 United Kingdom Caucasian PMID:29729943 [Fam.Q:II.1(Q.II.1 (44))]; PMID:27102614 [Fam.B:I.1(2)]
105176arrow icon F 215661 20 5 United Kingdom Caucasian PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(3)]
105177arrow icon M 215661 16 14 United Kingdom Caucasian PMID:30250467 [L.II.2]; PMID:29729943 [Fam.L:II.2(L.II.2 (36))]; PMID:27102614 [Fam.C:II.2(4)]
105179arrow icon F 215661 40 20 United Kingdom Caucasian PMID:29729943 [Fam.L:I.2(L.I.2 (34))]; PMID:27102614 [Fam.C:I.2(mother)]
105180arrow icon M 215662 22 2 United Kingdom Caucasian PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)]
105185arrow icon M 215663 20 7 Possible U.S.A. PMID:27102614 [Fam.E:III.1(6)]; PMID:30940614 [P7]
105190arrow icon F 215664 35 1 U.S.A. Caucasian PMID:27102614 [Fam.F:II.1(7)]
105191arrow icon F 215664 33 23 U.S.A. Caucasian PMID:27102614 [Fam.F:II.2(8)]
105273arrow icon F 215682 18 U.S.A. North American GRID:000111 [Patient(I.1)]
105336arrow icon M 215698 46 23 Switzerland Caucasian PMID:29729943 [Fam.AAA:II.1(AAA.II.1 (130))]; PMID:27908448 [Patient(I.1)]
105363arrow icon F 215722 15 6 U.S.A. Afro-American PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)]
105365arrow icon F 215722 55 U.S.A. Afro-American PMID:29729943 [Fam.X:I.2(X.I.2 (58))]; PMID:28366794 [Fam.A:I.2(mother)]
105366arrow icon U 215723 PMID:28366794 [Fam.B:I.1(P2)]
105367arrow icon M 215724 6 U.S.A. European PMID:27577878 [Fam.A:II.1(14.1)]
105368arrow icon M 215724 U.S.A. European PMID:27577878 [Fam.A:I.1(father)]
105370arrow icon F 215725 21 16 Norway Caucasian PMID:29729943 [Fam.Z:III.1(Z.III.1 (67))]; PMID:27577878 [Fam.B:II.1(15.1)]
105372arrow icon F 215725 50 Norway Caucasian PMID:29729943 [Fam.Z:II.2(Z.II.1 (63))]; PMID:27577878 [Fam.B:I.2(mother)]
105373arrow icon F 215726 24 Norwegian PMID:27577878 [Fam.C:II.1(46.1)]
105375arrow icon M 215726 Norwegian PMID:27577878 [Fam.C:I.1(father)]
105533arrow icon M 215791 45 9 Portugal Portuguese PMID:29225858 [Patient(I.1)]
105542arrow icon M 215796 49 Definitive United Kingdom PMID:28983403 [P6]
105543arrow icon M 215797 30 Possible United Kingdom PMID:28983403 [P7]
105546arrow icon M 215800tree icon 13 8 Definitive Spain Caucasian PMID:29867916 [N211(II.1)]; PMID:29729943 [Fam.O:II.1(O.II.1 (42))]
105549arrow icon F 215801 21 11 Caucasian PMID:29200144 [Fam.A:IV.1(P1)]
105551arrow icon F 215801 Caucasian PMID:29200144 [Fam.A:III.2(mother)]
105553arrow icon F 215801 Caucasian PMID:29200144 [Fam.A:II.2(grandmother)]
105907arrow icon M 215904 22 11 Unclear Germany Caucasian PMID:29729943 [Fam.J:II.1(J.II.1 (32))]
105910arrow icon F 215905 53 26 Unclear Germany Caucasian PMID:30250467 [K.II.1]; PMID:29729943 [Fam.K:II.1(K.II.1 (33))]
105926arrow icon M 215909 10 10 Unclear Japan Japanese PMID:29729943 [Fam.N:III.2(N.III.2 (41))]; PMID:35087518 [Fam.12:III.2(12.4)]
105928arrow icon F 215909 71 Japan Japanese PMID:29729943 [Fam.N:I.2(N.I.2 (38))]; PMID:35087518 [Fam.12:I.2(12.1)]
105930arrow icon F 215909 47 Japan Japanese PMID:29729943 [Fam.N:II.2(N.II.1 (39))]; PMID:35087518 [Fam.12:II.1(12.2)]
105932arrow icon M 215909 42 Japan Japanese PMID:29729943 [Fam.N:II.4(N.II.3 (40))]; PMID:35087518 [Fam.12:II.3(12.3)]
105957arrow icon M 215914 13 2 Possible Germany Caucasian PMID:29729943 [Fam.P:II.2(P.II.2 (43))]
105968arrow icon M 215916 9 4 Unclear Japan Japanese PMID:29729943 [Fam.U:II.1(U.II.1 (50))]; PMID:30048690 [Fam.1:II.1(P1.2)]; PMID:35087518 [Fam.13:II.1(13.2)]
105969arrow icon M 215916 40 Japan Japanese PMID:29729943 [Fam.U:I.1(U.I.I (49))]; PMID:30048690 [Fam.1:I.1(P1.1)]; PMID:35087518 [Fam.13:I.1(13.1)]
105971arrow icon M 215916 8 Japan Japanese PMID:29729943 [Fam.U:II.2(U.II.2 (51))]; PMID:30048690 [Fam.1:II.2(P1.3)]; PMID:35087518 [Fam.13:II.2(13.3)]
105972arrow icon F 215916 6 Japan Japanese PMID:29729943 [Fam.U:II.3(U.II.3 (52))]; PMID:30048690 [Fam.1:II.3(P1.4)]; PMID:35087518 [Fam.13:II.3(13.4)]
105973arrow icon F 215917 14 9 Unclear Japan Japanese PMID:29729943 [Fam.V:II.1(V.II.1 (53))]; PMID:35087518 [14.1]
105974arrow icon M 215918 43 19 Unclear Japan Japanese PMID:29729943 [Fam.W:I.1(W.I.1 (54))]; PMID:30048690 [Fam.2:I.1(P2.1)]; PMID:35087518 [Fam.15:I.1(15.1)]
105976arrow icon M 215918 16 Japan Japanese PMID:29729943 [Fam.W:II.1(W.II.1 (55))]; PMID:35087518 [Fam.15:II.1(15.2)]
105977arrow icon F 215918 14 9 Japan Japanese PMID:29729943 [Fam.W:II.2(W.II.2 (56))]; PMID:30048690 [Fam.2:II.2(P2.2)]; PMID:35087518 [Fam.15:II.2(15.3)]
105978arrow icon F 215918 6 4 Japan Japanese PMID:29729943 [Fam.W:II.3(W.II.3 (57))]; PMID:30048690 [Fam.2:II.3(P2.3)]; PMID:35087518 [Fam.15:II.3(15.4)]
105979arrow icon M 215919 49 Unclear Germany Caucasian PMID:29729943 [Fam.Y:I.1(Y.I.1 (60))]
105981arrow icon M 215919 20 10 Germany Caucasian PMID:29729943 [Fam.Y:II.1(Y.II.1 (61))]
105982arrow icon F 215920 45 Unclear Japan Japanese PMID:29729943 [Fam.BB:I.2(BB.I.2 (70))]; PMID:30048690 [Fam.6:I.2(P6.1)]; PMID:35087518 [Fam.17:I.2(17.1)]
105984arrow icon F 215920 20 Japan Japanese PMID:29729943 [Fam.BB:II.1(BB.II.1 (71))]; PMID:35087518 [Fam.17:II.1(17.2)]
105985arrow icon F 215920 17 10 Japan Japanese PMID:29729943 [Fam.BB:II.2(BB.II.2 (72))]; PMID:30048690 [Fam.6:II.2(P6.2)]; PMID:35087518 [Fam.17:II.2(17.3)]
106016arrow icon F 215725 81 Norway Caucasian PMID:29729943 [Fam.Z:I.2(Z.I.2 (62))]
106017arrow icon M 215725 49 43 Norway Caucasian PMID:29729943 [Fam.Z:II.3(Z.II.2 (64))]
106018arrow icon F 215725 Norway Caucasian PMID:29729943 [Fam.Z:II.4(Z.II.3 (65))]
106021arrow icon M 215725 Norway Caucasian PMID:29729943 [Fam.Z:II.7(Z.II.6 (66))]
106023arrow icon M 215923 18 18 Unclear Japan Japanese PMID:29729943 [Fam.AA:IV.1(AA.IV.1 (69))]; PMID:30048690 [Fam.4:IV.1(P4.2)]; PMID:35087518 [Fam.16:IV.1(16.2)]
106034arrow icon M 215923 46 Japan Japanese PMID:29729943 [Fam.AA:III.3(AA.III.3 (68))]; PMID:30048690 [Fam.4:III.3(P4.1)]; PMID:35087518 [Fam.16:III.3(16.1)]
106036arrow icon F 215924 43 10 Unclear Japan Japanese PMID:29729943 [Fam.CC:II.1(CC.II.1 (73))]; PMID:30048690 [Fam.5:II.1(P5.1)]; PMID:35087518 [18.1]
106037arrow icon M 215925 15 13 Possible Japan Japanese PMID:29729943 [Fam.DD:II.1(DD.II.1 (75))]; PMID:35087518 [Fam.19:II.1(19.2)]
106039arrow icon F 215925 37 Japan Japanese PMID:29729943 [Fam.DD:I.2(DD.I.2 (74))]; PMID:30048690 [Fam.3:I.2(P3.1)]; PMID:35087518 [Fam.19:I.2(19.1)]
106041arrow icon M 215926 18 11 Unclear Netherlands Caucasian PMID:29729943 [Fam.EE:II.1(EE.II.1 (76))]
106042arrow icon M 215927 22 6 Possible U.S.A. North American PMID:30250467 [FF.II.1]; PMID:29729943 [Fam.FF:II.1(FF.II.1 (77))]
106043arrow icon F 215928 28 2 Unclear U.S.A. Afro-American PMID:29729943 [Fam.HH:II.1(HH.II.1 (82))]
106044arrow icon F 215929 36 21 Possible Czech Republic Caucasian PMID:29729943 [Fam.KK:II.1(KK.II.1 (85))]
106045arrow icon M 215929 58 Czech Republic Caucasian PMID:29729943 [Fam.KK:I.1(KK.I.1 (84))]
106047arrow icon F 215930 14 1 Unclear Czech Republic Caucasian PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))]
106048arrow icon M 210991 61 12 Uruguay Caucasian PMID:29729943 [Fam.NN:I.1(NN.I.1 (88))]
106051arrow icon F 210991 Uruguay Caucasian PMID:29729943 [Fam.NN:II.2(NN.II.1 (89))]
106057arrow icon F 210991 29 23 Uruguay Caucasian PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))]
106060arrow icon F 210991 20 13 Uruguay Caucasian PMID:29729943 [Fam.NN:II.10(NN.II.8 (91))]
106061arrow icon F 210991 17 Uruguay Caucasian PMID:29729943 [Fam.NN:II.12(NN.II.10 (93))]
106062arrow icon M 210991 21 6 Uruguay Caucasian PMID:29729943 [Fam.NN:II.13(NN.II.11 (94))]
106068arrow icon M 215931 40 8 Unclear Canada Caucasian PMID:29729943 [Fam.PP:II.1(PP.II.1 (96))]
106069arrow icon F 215932 16 14 Possible U.S.A. Caucasian PMID:29729943 [Fam.RR:II.1(RR.II.1 (98))]
106070arrow icon F 215933 27 15 Unclear U.S.A. Caucasian PMID:29729943 [Fam.SS:II.1(SS.II.1 (99))]
106071arrow icon M 215934 50 5 Possible Czech Republic Caucasian PMID:29729943 [Fam.TT:I.2(TT.I.1 (100))]
106075arrow icon M 215934 26 21 Czech Republic Caucasian PMID:29729943 [Fam.TT:II.2(TT.II.2 (101))]
106076arrow icon F 215934 24 11 Czech Republic Caucasian PMID:29729943 [Fam.TT:II.3(TT.II.3 (102))]
106077arrow icon M 215934 10 4 Czech Republic Caucasian PMID:29729943 [Fam.TT:II.4(TT.II.4 (103))]
106078arrow icon M 215934 6 1 Czech Republic Caucasian PMID:29729943 [Fam.TT:II.5(TT.II.5 (104))]
106094arrow icon M 215947 13 7 Unclear Saudi Arabia Caucasian PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))]
106095arrow icon M 215947 Saudi Arabia Caucasian PMID:29729943 [Fam.VV:I.1(VV.I.1 (123))]
106097arrow icon M 215948 12 8 Possible United Kingdom Caucasian PMID:29729943 [Fam.WW:II.1(WW.II.1 (125))]
106099arrow icon M 210955 19 16 Germany Caucasian PMID:29729943 [Fam.ZZ:II.1(ZZ.II.1 (129))]
106100arrow icon F 215949 38 38 Unclear U.S.A. Caucasian PMID:29729943 [Fam.DDD:II.1(DDD.II.1 (133))]; PMID:30048690 [Fam.3:II.1(P3.2)]
106105arrow icon M 215950 14 14 Unclear U.S.A. Caucasian PMID:29729943 [Fam.CCC:II.1(CCC.II.1 (132))]
106240arrow icon F 215977 34 0 Possible Spain Caucasian PMID:29729943 [Fam.UU:IV.14(UU.IV.12 (120))]; PMID:29305966 [IV.2(IV.2)]
106246arrow icon F 215977 63 14 Spain Caucasian PMID:29729943 [Fam.UU:III.11(UU.III.7 (111))]; PMID:29305966 [Fam.IV.2:III.2(III.2)]
106248arrow icon F 215977 53 Spain Caucasian PMID:29729943 [Fam.UU:III.15(UU.III.10 (113))]; PMID:29305966 [Fam.IV.2:III.4(III.5)]
106249arrow icon F 215977 64 Spain Caucasian PMID:29729943 [Fam.UU:III.9(UU.III.6 (110))]; PMID:29305966 [Fam.IV.2:III.5(III.6)]
106250arrow icon M 215977 68 57 Spain Caucasian PMID:29729943 [Fam.UU:III.5(UU.III.4 (109))]; PMID:29305966 [Fam.IV.2:III.6(III.8)]
106251arrow icon M 215977 55 Spain Caucasian PMID:29729943 [Fam.UU:III.13(UU.III.9 (112))]; PMID:29305966 [Fam.IV.2:III.7(III.3)]
106259arrow icon F 215977 65 6 Spain Caucasian PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.IV.2:III.12(III.4)]
106264arrow icon M 215977 40 Spain Caucasian PMID:29729943 [Fam.UU:IV.11(UU.IV.10 (119))]; PMID:29305966 [Fam.IV.2:IV.5(IV.11)]
106268arrow icon M 215977 38 Spain Caucasian PMID:29729943 [Fam.UU:IV.10(UU.IV.9 (118))]; PMID:29305966 [Fam.IV.2:IV.6(IV.10)]
106274arrow icon M 215977 42 31 Spain Caucasian PMID:29729943 [Fam.UU:IV.2(UU.IV.2 (115))]; PMID:29305966 [Fam.IV.2:IV.11(IV.7)]
106275arrow icon M 215977 33 Spain Caucasian PMID:29729943 [Fam.UU:IV.5(UU.IV.4 (117))]; PMID:29305966 [Fam.IV.2:IV.12(IV.6)]
106276arrow icon M 215977 46 Spain Caucasian PMID:29729943 [Fam.UU:IV.1(UU.IV.1 (114))]; PMID:29305966 [Fam.IV.2:IV.13(IV.8)]
106277arrow icon F 215977 40 Spain Caucasian PMID:29729943 [Fam.UU:IV.4(UU.IV.3 (116))]; PMID:29305966 [Fam.IV.2:IV.14(IV.4)]
106279arrow icon M 215977 3 1 Spain Caucasian PMID:29729943 [Fam.UU:V.2(UU.V.2 (122))]; PMID:29305966 [Fam.IV.2:V.1(V.1)]
106281arrow icon M 215977 10 0 Spain Caucasian PMID:29729943 [Fam.UU:V.1(UU.V.1 (121))]; PMID:29305966 [Fam.IV.2:V.3(V.3)]
106313arrow icon F 215982 37 5 Unclear Canada Caucasian PMID:29729943 [P1]
106314arrow icon M 215983 20 14 Unclear Australia Caucasian PMID:29729943 [P2]
106348arrow icon M 215995 61 38 Possible PMID:30250467 [CO.I.1(I.1)]; PMID:34111452 [CO.I.1 (173)]
106349arrow icon F 215996 25 1 Possible PMID:30250467 [Fam.CM:II.2(CM.II.2)]; PMID:34111452 [CM.II.2 (171)]
106350arrow icon M 215996 75 60 PMID:30250467 [Fam.CM:I.2(CM.I.2)]
106351arrow icon F 215997 24 Possible PMID:30250467 [Fam.CZ:CZ.II.2]
106358arrow icon M 216000 26 3 Possible Japan PMID:31993940 [Patient(II.1)]
106371arrow icon M 216004 23 Possible PMID:29375547 [Fam.A:II.1(A.II.1)]; PMID:31396201 [P2(II.1)]
106372arrow icon M 216004 PMID:29375547 [Fam.A:I.13(A.I.1)]
106390arrow icon M 216005 24 4 Possible Iran PMID:32996901 [Patient(II.1)]
106393arrow icon F 216006tree icon 9 Possible Germany German PMID:36273440 [III.3(III.3)]
106399arrow icon M 216006tree icon 51 51 Germany German PMID:36273440 [Fam.III.3:II.4]
106402arrow icon F 216006tree icon 22 9 Germany German PMID:36273440 [Fam.III.3:III.2]
106485arrow icon U 216038 Possible PMID:30940614 [P8]
106486arrow icon U 216039 Possible PMID:30940614 [P10]
106487arrow icon U 216040 Possible PMID:30940614 [P11]
106488arrow icon U 216041 Possible PMID:30940614 [P12]
106489arrow icon U 216042 Possible PMID:30940614 [P13]
106490arrow icon U 216043 Possible PMID:30940614 [P14]
106496arrow icon F 216046 17 Definitive U.S.A. Caucasian PMID:31156616 [Fam.A:II.2(A.II.2)]
106497arrow icon F 216046 48 U.S.A. Caucasian PMID:31156616 [Fam.A:I.1(A.I.1)]
106499arrow icon F 216046 24 U.S.A. Caucasian PMID:31156616 [Fam.A:II.1(A.II.1)]
106500arrow icon F 216046 0 U.S.A. Caucasian PMID:31156616 [Fam.A:III.1(A.III.1)]
106501arrow icon M 216047 10 Possible U.S.A. Caucasian PMID:31156616 [Fam.B:II.2(B.II.1)]
106502arrow icon F 216047 U.S.A. Caucasian PMID:31156616 [Fam.B:I.1(B.I.1)]
106507arrow icon F 216049 Possible PMID:34111452 [Fam.BE:I.1(BE.I.1 (134))]
106508arrow icon F 216049 PMID:34111452 [Fam.BE:II.1(BE.II.1 (135))]
106509arrow icon F 216049 PMID:34111452 [Fam.BE:II.3(BE.II.3 (136))]
106510arrow icon F 216050 Possible PMID:34111452 [BF.I.1 (137)]
106511arrow icon M 216051 Possible PMID:34111452 [BG.I.1 (138)]
106512arrow icon M 216052 Possible PMID:34111452 [Fam.BH:II.1(BH.II.1 (139))]
106513arrow icon M 216052 PMID:34111452 [Fam.BH:II.2(BH.II.2 (140))]
106514arrow icon M 216052 PMID:34111452 [Fam.BH:I.1(BH.I.1 (141))]
106515arrow icon M 216052 PMID:34111452 [Fam.BH:I.2(BH.I.2 (142))]
106516arrow icon M 216052 PMID:34111452 [Fam.BH:I.3(BH.I.3 (143))]
106517arrow icon F 216052 PMID:34111452 [Fam.BH:II.5(BH.II.5 (144))]
106518arrow icon M 216052 PMID:34111452 [Fam.BH:II.7(BH.II.7 (145))]
106519arrow icon F 216053 Possible PMID:34111452 [BI.II.1 (146)]
106520arrow icon F 216054 Possible PMID:34111452 [BJ.II.1 (147)]
106521arrow icon M 216055 Possible PMID:34111452 [BK.I.1 (148)]
106522arrow icon M 216056 Possible PMID:34111452 [BL.II.1 (149)]
106523arrow icon M 216057 Possible PMID:34111452 [BM.II.1 (150)]
106524arrow icon M 216058 Possible PMID:34111452 [BN.II.1 (151)]
106525arrow icon M 216059 Possible PMID:34111452 [BO.II.1 (152)]
106526arrow icon F 216060 Possible PMID:34111452 [Fam.BP:I.1(BP.I.1 (153))]
106527arrow icon F 216060 PMID:34111452 [Fam.BP:II.1(BP.II.1 (154))]
106528arrow icon F 216060 PMID:34111452 [Fam.BP:II.2(BP.II.2 (155))]
106529arrow icon M 216061 Possible PMID:34111452 [BQ.II.1 (156)]
106530arrow icon M 216062 Possible PMID:34111452 [BT.II.1 (157)]
106531arrow icon F 216063 Possible PMID:34111452 [BU.II.1 (158)]
106532arrow icon F 216064 Possible PMID:34111452 [BY.II.1 (159)]
106533arrow icon F 216065 Possible PMID:34111452 [BZ.II.1 (160)]
106534arrow icon F 216066 Possible PMID:34111452 [CA.II.1 (161)]
106535arrow icon F 216067 Possible PMID:34111452 [CB.II.1 (162)]
106536arrow icon F 216068 Possible PMID:34111452 [Fam.CE:II.1(CE.II.1 (164))]
106537arrow icon F 216068 PMID:34111452 [Fam.CE.II.1 (164):I.1(CE.I.1 (163))]
106538arrow icon M 216069 Possible PMID:34111452 [CF.II.1 (165)]
106539arrow icon F 216070 Possible PMID:34111452 [CG.II.1 (166)]
106540arrow icon F 216071 Possible PMID:34111452 [CK.I.1 (167)]
106541arrow icon M 216072 Possible PMID:34111452 [CL.II.1 (168)]
106542arrow icon F 216073 Possible PMID:34111452 [Fam.CM:II.1(CM.II.1 (170))]
106543arrow icon F 216073 PMID:34111452 [Fam.CM:I.1(CM.I.1 (169))]
106544arrow icon F 216073 PMID:34111452 [Fam.CM:II.2(CM.II.2 (171))]
106545arrow icon M 216074 Possible PMID:34111452 [CN.II.1 (172)]
106592arrow icon M 216085 16 Possible PMID:34116213 [Fam.A:II.1(P1)]
106594arrow icon F 216085 38 PMID:34116213 [Fam.A:I.2(mother)]
106595arrow icon F 216086 15 8 Possible PMID:34116213 [Fam.B:P2]
106642arrow icon F 216097 4 2 Possible Australia European PMID:31396201 [Fam.:II.1(P1)]
106646arrow icon M 216099 16 Possible PMID:34628649 [Patient(III.1)]
106652arrow icon F 216099 PMID:34628649 [Fam.Patient:III.2(Sister)]
106697arrow icon F 216110 16 Possible Japan Japanese PMID:30048690 [Fam.7:7.1]; PMID:35087518 [Fam.20:20.1]
106700arrow icon F 216113 28 Possible Japan Japanese PMID:35087518 [Fam.22:22.1]; PMID:34707038 [Patient(II.1)]
106703arrow icon F 216114 29 Possible Japan Japanese PMID:35087518 [Fam.21:II.1(21.2)]
106705arrow icon M 216114 64 Japan Japanese PMID:35087518 [Fam.21:I.1(21.1)]
106707arrow icon M 216114 29 Japan Japanese PMID:35087518 [Fam.21:II.2(21.3)]
106708arrow icon F 216115 43 Definitive Japan Japanese PMID:35087518 [Fam.23:23.1]
106709arrow icon F 216116 47 Possible Japan Japanese PMID:35087518 [Fam.24:24.1]
106710arrow icon M 216117 7 Possible Japan Japanese PMID:35087518 [Fam.25:25.1]
106711arrow icon F 216118 47 Possible Japan Japanese PMID:35087518 [Fam.26:26.1]
106778arrow icon M 216129 Unclear Egypt Egyptian PMID:35482138 [Fam.149:159]
106779arrow icon F 216130 Unclear Egypt Egyptian PMID:35482138 [Fam.150:160]
106780arrow icon F 216131 Unclear Egypt Egyptian PMID:35482138 [Fam.151:161]
106781arrow icon F 216132 Unclear Egypt Egyptian PMID:35482138 [Fam.152:162]
106782arrow icon M 216133 Unclear Egypt Egyptian PMID:35482138 [Fam.153:163]
106783arrow icon F 216134 Unclear Egypt Egyptian PMID:35482138 [Fam.154:164]
106784arrow icon F 216135 Unclear Egypt Egyptian PMID:35482138 [Fam.155:165]
106785arrow icon M 216136 Unclear Egypt Egyptian PMID:35482138 [Fam.156:166]
106795arrow icon F 216146 Possible Finland PMID:37740092 [P02]
106796arrow icon M 216147 Possible PMID:37740092 [P03]
106797arrow icon F 216148 52 Possible Germany PMID:37740092 [P06]
106798arrow icon F 216149 Possible Canada PMID:37740092 [P08]
106799arrow icon M 216150 Possible PMID:37740092 [P09]
106800arrow icon F 216151 Unclear PMID:37740092 [P15]
106801arrow icon M 216152 Possible Germany PMID:37740092 [P16]
106802arrow icon F 216153 Possible U.S.A. PMID:37740092 [P21]
106803arrow icon F 216154 Possible Germany PMID:37740092 [P22]
106804arrow icon F 216155 46 Definitive Germany PMID:37740092 [P23]
106805arrow icon F 216156 20 Unclear PMID:37740092 [P24]
106840arrow icon M 216167 23 16 Possible SouthEast Asian PMID:35242131 [3]
106944arrow icon U 216190 Disputed PMID:37740092 [P12]
106945arrow icon M 216191 Definitive PMID:37740092 [P05]
106946arrow icon F 216192 25 24 Possible Germany German PMID:37740092 [P10]
106947arrow icon F 216193 Unclear Germany German PMID:37740092 [P11]
106948arrow icon F 216194 32 Definitive Germany German PMID:37740092 [P18]
107108arrow icon F 216337 33 Possible Germany German PMID:34619682 [P.165]
107109arrow icon F 216338 23 Possible Germany German PMID:34619682 [P.215]

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical term Present Absent Unreported
1 Hypogammaglobulinemiaarrow icon 98 (42.1%) 2 (0.9%) 133 (57.1%)
2 Autoimmunityarrow icon 86 (36.9%) 20 (8.6%) 127 (54.5%)
3 Enteropathyarrow icon 81 (34.8%) 9 (3.9%) 143 (61.4%)
4 Abnormal lymphoproliferationarrow icon 70 (30.0%) 12 (5.2%) 151 (64.8%)
5 (unusual) Respiratory tract infectionarrow icon 66 (28.3%) 12 (5.2%) 155 (66.5%)
6 Decreased IgA levelsarrow icon 63 (27.0%) 3 (1.3%) 167 (71.7%)
7 Autoimmune cytopeniaarrow icon 63 (27.0%) 18 (7.7%) 152 (65.2%)
8 Decreased IgG levelsarrow icon 58 (24.9%) 5 (2.2%) 170 (73.0%)
9 Lung diseasearrow icon 58 (24.9%) 14 (6.0%) 161 (69.1%)
10 Splenomegalyarrow icon 56 (24.0%) 13 (5.6%) 164 (70.4%)
11 Diarrheaarrow icon 47 (20.2%) 8 (3.4%) 178 (76.4%)
12 Lymphadenopathyarrow icon 44 (18.9%) 18 (7.7%) 171 (73.4%)
13 (unusual) Viral infectionarrow icon 43 (18.5%) 12 (5.2%) 178 (76.4%)
14 Autoimmune thrombocytopeniaarrow icon 40 (17.2%) 18 (7.7%) 175 (75.1%)
15 Pneumoniaarrow icon 39 (16.7%) 0 (0.0%) 194 (83.3%)
16 Recurrent lower respiratory tract infectionsarrow icon 38 (16.3%) 1 (0.4%) 194 (83.3%)
17 Recurrent upper respiratory tract infectionarrow icon 37 (15.9%) 1 (0.4%) 195 (83.7%)
18 Autoimmune antibody positivityarrow icon 37 (15.9%) 8 (3.4%) 188 (80.7%)
19 Decreased IgM levelsarrow icon 34 (14.6%) 6 (2.6%) 193 (82.8%)
20 Autoimmune hemolytic anemiaarrow icon 32 (13.7%) 19 (8.2%) 182 (78.1%)
21 Eczemaarrow icon 32 (13.7%) 0 (0.0%) 201 (86.3%)
22 (Unusual) bacterial infectionarrow icon 31 (13.3%) 11 (4.7%) 191 (82.0%)
23 Hepatopathyarrow icon 30 (12.9%) 18 (7.7%) 185 (79.4%)
24 Atopyarrow icon 30 (12.9%) 0 (0.0%) 203 (87.1%)
25 Endocrine system abnormalityarrow icon 29 (12.5%) 1 (0.4%) 203 (87.1%)
26 Granulomatous-lymphocytic interstitial lung diseasearrow icon 29 (12.5%) 16 (6.9%) 188 (80.7%)
27 Reduced ab-response to tetanus vaccinearrow icon 26 (11.2%) 1 (0.4%) 206 (88.4%)
28 Coombs Test Positivearrow icon 24 (10.3%) 1 (0.4%) 208 (89.3%)
29 Nervous system abnormalityarrow icon 23 (9.9%) 0 (0.0%) 210 (90.1%)
30 Psoriasiform dermatitisarrow icon 21 (9.0%) 6 (2.6%) 206 (88.4%)
31 Lymphopeniaarrow icon 20 (8.6%) 2 (0.9%) 211 (90.6%)
32 Reduced number of B cellsarrow icon 20 (8.6%) 1 (0.4%) 212 (91.0%)
33 Bronchiectasisarrow icon 20 (8.6%) 0 (0.0%) 213 (91.4%)
34 Herpes Simplex Virus Infectionarrow icon 20 (8.6%) 0 (0.0%) 213 (91.4%)
35 Reduced ab-response to pneumococcal polysaccharide vaccinearrow icon 20 (8.6%) 1 (0.4%) 212 (91.0%)
36 Arthritisarrow icon 19 (8.2%) 14 (6.0%) 200 (85.8%)
37 Atopic dermatitisarrow icon 18 (7.7%) 0 (0.0%) 215 (92.3%)
38 Septicaemiaarrow icon 18 (7.7%) 0 (0.0%) 215 (92.3%)
39 negative ab-response to diphtheria vaccinearrow icon 17 (7.3%) 1 (0.4%) 215 (92.3%)
40 Autoimmune neutropeniaarrow icon 17 (7.3%) 0 (0.0%) 216 (92.7%)
41 Type I diabetes mellitusarrow icon 17 (7.3%) 0 (0.0%) 216 (92.7%)
42 Hepatomegalyarrow icon 17 (7.3%) 0 (0.0%) 216 (92.7%)
43 Respiratory system abnormalityarrow icon 15 (6.4%) 0 (0.0%) 218 (93.6%)
44 Common variable immunodeficiencyarrow icon 14 (6.0%) 0 (0.0%) 219 (94.0%)
45 Growth delayarrow icon 14 (6.0%) 14 (6.0%) 205 (88.0%)
46 Sinusitisarrow icon 13 (5.6%) 1 (0.4%) 219 (94.0%)
47 Thrombocytopeniaarrow icon 13 (5.6%) 0 (0.0%) 220 (94.4%)
48 Mucocutaneous candidiasisarrow icon 13 (5.6%) 5 (2.2%) 215 (92.3%)
49 (unusual) Epstein-Barr virus infectionarrow icon 13 (5.6%) 3 (1.3%) 217 (93.1%)
50 Reduced proportion of CD4 T cellsarrow icon 13 (5.6%) 1 (0.4%) 219 (94.0%)
51 Persistent EBV viremiaarrow icon 13 (5.6%) 9 (3.9%) 211 (90.6%)
52 Malignant neoplasmarrow icon 12 (5.2%) 14 (6.0%) 207 (88.8%)
53 Interstitial lung diseasearrow icon 12 (5.2%) 0 (0.0%) 221 (94.9%)
54 Wartsarrow icon 12 (5.2%) 0 (0.0%) 221 (94.9%)
55 Autoimmune thyroiditisarrow icon 12 (5.2%) 13 (5.6%) 208 (89.3%)
56 Abnormal weight lossarrow icon 12 (5.2%) 0 (0.0%) 221 (94.9%)
57 Brain infiltrationarrow icon 12 (5.2%) 1 (0.4%) 220 (94.4%)
58 Colitisarrow icon 11 (4.7%) 0 (0.0%) 222 (95.3%)
59 Hematopoietic stem cell transplantationarrow icon 11 (4.7%) 2 (0.9%) 220 (94.4%)
60 Atrophic gastritisarrow icon 11 (4.7%) 11 (4.7%) 211 (90.6%)
61 Allergyarrow icon 11 (4.7%) 0 (0.0%) 222 (95.3%)
62 Cytomegalovirus infectionarrow icon 11 (4.7%) 3 (1.3%) 219 (94.0%)
63 Recurrent S. aureus infectionsarrow icon 10 (4.3%) 0 (0.0%) 223 (95.7%)
64 Alopeciaarrow icon 10 (4.3%) 0 (0.0%) 223 (95.7%)
65 Arthralgiaarrow icon 9 (3.9%) 11 (4.7%) 213 (91.4%)
66 Reduced NK cell numberarrow icon 9 (3.9%) 1 (0.4%) 223 (95.7%)
67 Bone marrow lymphocytic infiltrationarrow icon 9 (3.9%) 0 (0.0%) 224 (96.1%)
68 Reduced proportion of CD8 T cellsarrow icon 9 (3.9%) 1 (0.4%) 223 (95.7%)
69 Neutropeniaarrow icon 9 (3.9%) 0 (0.0%) 224 (96.1%)
70 Pancytopeniaarrow icon 9 (3.9%) 0 (0.0%) 224 (96.1%)
71 Dermatitisarrow icon 8 (3.4%) 13 (5.6%) 212 (91.0%)
72 Pulmonary nodulearrow icon 8 (3.4%) 0 (0.0%) 225 (96.6%)
73 Graft Versus Host Diseasearrow icon 8 (3.4%) 3 (1.3%) 222 (95.3%)
74 Antinuclear antibodiesarrow icon 8 (3.4%) 10 (4.3%) 215 (92.3%)
75 Anemiaarrow icon 8 (3.4%) 0 (0.0%) 225 (96.6%)
76 Reduced T cell countarrow icon 8 (3.4%) 0 (0.0%) 225 (96.6%)
77 Kidney abnormalityarrow icon 8 (3.4%) 0 (0.0%) 225 (96.6%)
78 Hodgkin lymphomaarrow icon 8 (3.4%) 0 (0.0%) 225 (96.6%)
79 Dyslipidemiaarrow icon 8 (3.4%) 7 (3.0%) 218 (93.6%)
80 Bronchitisarrow icon 8 (3.4%) 0 (0.0%) 225 (96.6%)
81 Salmonella infectionarrow icon 8 (3.4%) 12 (5.2%) 213 (91.4%)
82 Gastritisarrow icon 8 (3.4%) 1 (0.4%) 224 (96.1%)
83 Decreased proportion of regulatory T cellsarrow icon 8 (3.4%) 0 (0.0%) 225 (96.6%)
84 Decreased proportion of switched memory B cellsarrow icon 7 (3.0%) 0 (0.0%) 226 (97.0%)
85 Increased proportion of CD21low B cellsarrow icon 7 (3.0%) 0 (0.0%) 226 (97.0%)
86 Otitis mediaarrow icon 7 (3.0%) 0 (0.0%) 226 (97.0%)
87 Hypothyroidismarrow icon 7 (3.0%) 0 (0.0%) 226 (97.0%)
88 Gastrointestinal lymphocytic infiltrationarrow icon 7 (3.0%) 0 (0.0%) 226 (97.0%)
89 Feverarrow icon 7 (3.0%) 0 (0.0%) 226 (97.0%)
90 Recurrent Haemophilus influenzae infectionsarrow icon 7 (3.0%) 0 (0.0%) 226 (97.0%)
91 Hepatitisarrow icon 7 (3.0%) 2 (0.9%) 224 (96.1%)
92 Leukopeniaarrow icon 7 (3.0%) 3 (1.3%) 223 (95.7%)
93 Varicella zoster virus infectionarrow icon 7 (3.0%) 1 (0.4%) 225 (96.6%)
94 Drug allergyarrow icon 6 (2.6%) 0 (0.0%) 227 (97.4%)
95 Gastrointestinal inflammationarrow icon 6 (2.6%) 0 (0.0%) 227 (97.4%)
96 Absent ab-response to pneumococcal polysaccharide vaccinearrow icon 6 (2.6%) 0 (0.0%) 227 (97.4%)
97 Chronic CSF lymphocytosisarrow icon 6 (2.6%) 0 (0.0%) 227 (97.4%)
98 Cachexiaarrow icon 6 (2.6%) 0 (0.0%) 227 (97.4%)
99 Lymphomaarrow icon 6 (2.6%) 0 (0.0%) 227 (97.4%)
100 Unusual infectionarrow icon 6 (2.6%) 1 (0.4%) 226 (97.0%)
101 Abdominal painarrow icon 6 (2.6%) 0 (0.0%) 227 (97.4%)
102 Cytomegalovirus Infection Reactivationarrow icon 6 (2.6%) 0 (0.0%) 227 (97.4%)
103 Seizuresarrow icon 5 (2.2%) 13 (5.6%) 215 (92.3%)
104 Reduced IgG2 levelsarrow icon 5 (2.2%) 0 (0.0%) 228 (97.9%)
105 Gastric adenocarcinomaarrow icon 5 (2.2%) 0 (0.0%) 228 (97.9%)
106 Osteoporosisarrow icon 5 (2.2%) 0 (0.0%) 228 (97.9%)
107 Renal insufficiencyarrow icon 5 (2.2%) 0 (0.0%) 228 (97.9%)
108 Recurrent streptococcus pneumoniae infectionsarrow icon 5 (2.2%) 0 (0.0%) 228 (97.9%)
109 Crohn's diseasearrow icon 5 (2.2%) 0 (0.0%) 228 (97.9%)
110 Celiac diseasearrow icon 5 (2.2%) 1 (0.4%) 227 (97.4%)
111 Encephalitisarrow icon 5 (2.2%) 0 (0.0%) 228 (97.9%)
112 Ileitisarrow icon 5 (2.2%) 0 (0.0%) 228 (97.9%)
113 Headachesarrow icon 5 (2.2%) 0 (0.0%) 228 (97.9%)
114 Anti-glutamic acid decarboxylase antibody positivityarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
115 Reduced IgG4 levelsarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
116 Vitiligoarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
117 Global developmental delayarrow icon 4 (1.7%) 11 (4.7%) 218 (93.6%)
118 Penicillin Allergyarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
119 Leukocytosisarrow icon 4 (1.7%) 1 (0.4%) 228 (97.9%)
120 Immunodeficiencyarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
121 Follicular hyperplasiaarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
122 Recurrent E. coli infectionsarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
123 Fatiguearrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
124 Urticariaarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
125 Intestinal lymphoid nodular hyperplasiaarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
126 Juvenile rheumatoid arthritisarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
127 Autoimmune hepatitisarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
128 Non-Hodgkin lymphomaarrow icon 4 (1.7%) 1 (0.4%) 228 (97.9%)
129 Pernicious anemiaarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
130 Generalized lymphadenopathyarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
131 Herpes labialis, recurrentarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
132 (unusual) Fungal infectionarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
133 Inflammation of the large intestinearrow icon 4 (1.7%) 1 (0.4%) 228 (97.9%)
134 Monocytosisarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
135 Lymphocytic colitisarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
136 Pure red cell aplasiaarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
137 Granulomatosisarrow icon 4 (1.7%) 0 (0.0%) 229 (98.3%)
138 Burkitt lymphomaarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
139 Duodenal gastric metaplasiaarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
140 Villous atrophyarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
141 Decreased CD4:CD8 ratioarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
142 Cytomegalovirus colitisarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
143 Eosinophiliaarrow icon 3 (1.3%) 1 (0.4%) 229 (98.3%)
144 Norovirus infectionarrow icon 3 (1.3%) 1 (0.4%) 229 (98.3%)
145 Absent specific antibody response to tetanus vaccinearrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
146 (unusual) influenza infectionarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
147 Lymphoid hyperplasiaarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
148 Gastric adenomaarrow icon 3 (1.3%) 13 (5.6%) 217 (93.1%)
149 Mycobacterial infectionarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
150 Hepatosplenomegalyarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
151 Exocrine pancreatic insufficiencyarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
152 Platelet antibody positivearrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
153 Vomitingarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
154 Pulmonary infiltratesarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
155 Increased IgM levelsarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
156 Memory impairmentarrow icon 3 (1.3%) 9 (3.9%) 221 (94.9%)
157 Reduced IgG1 levelsarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
158 Decreased IgE levelsarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
159 Reduced proportion of naive CD4 T cellsarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
160 Enterocolitisarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
161 Respiratory insufficiencyarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
162 Aspergillosisarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
163 Lymphoproliferative disorderarrow icon 3 (1.3%) 1 (0.4%) 229 (98.3%)
164 Hypogonadismarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
165 Interstitial pneumonitisarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
166 Enteritisarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
167 Hypoalbuminemiaarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
168 Adrenocortical insufficiencyarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
169 Myelitisarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
170 Psoriatic Arthritisarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
171 Neutrophiliaarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
172 Immune dysregulationarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
173 Streptococcal Infectionarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
174 Helicobacter pylori infectionarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
175 CSF pleocytosisarrow icon 3 (1.3%) 0 (0.0%) 230 (98.7%)
176 Dependency on intravenous nutritionarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
177 Absence of memory B cellsarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
178 Decreased proportion of memory B cellsarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
179 Abnormal proportion of immature B cellsarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
180 Lichenoid skin lesionarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
181 Eosinopeniaarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
182 Abnormal total hemolytic complement activityarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
183 Persistent CMV viremiaarrow icon 2 (0.9%) 12 (5.2%) 219 (94.0%)
184 Positive direct antiglobulin testarrow icon 2 (0.9%) 1 (0.4%) 230 (98.7%)
185 Lymphoid interstitial pneumoniaarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
186 Pneumocystis jiroveci pneumoniaarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
187 Brain imaging abnormalityarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
188 Petechiaearrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
189 Antineutrophil antibodiesarrow icon 2 (0.9%) 2 (0.9%) 229 (98.3%)
190 Duodenal lymphocytosisarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
191 Diffuse large B-cell lymphomaarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
192 Septic Shockarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
193 Diabetes mellitusarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
194 Vasculitisarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
195 Decreased proportion of plasmablastsarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
196 APCA antibodiesarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
197 Rheumatoid factor positivearrow icon 2 (0.9%) 9 (3.9%) 222 (95.3%)
198 Paraparesisarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)
199 Increased proportion of CD8 T cellsarrow icon 2 (0.9%) 1 (0.4%) 230 (98.7%)
200 Increased number of B cellsarrow icon 2 (0.9%) 0 (0.0%) 231 (99.1%)

Please mind that full curation of this condition has not been completed yet. It is currently ongoing.

Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications
Immunosuppressive agents Unspecified (36) for Autoimmune cytopenia; Autoimmune cytopenia & Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Autoimmune thrombocytopenia; Colitis; Crohn's disease; Diabetes insipidus; Enteropathy; Graft Versus Host Disease; Hematopoietic stem cell transplantation; Hepatitis; Psoriasiform dermatitis; unspecified. Good (30) for Abnormal lymphoproliferation; Abnormal lymphoproliferation & Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Abnormal weight loss & Diarrhea & Enteropathy; Abnormal weight loss & Diarrhea & Graft Versus Host Disease; Acne inversa & Autoimmune hepatitis & Crohn's disease; Autoimmune cytopenia; Autoimmune hemolytic anemia; Autoimmune hemolytic anemia & Crohn's disease & Neutropenia & Thrombocytopenia; Autoimmune hemolytic anemia & Thrombocytopenia; Autoimmune hepatitis; Autoimmune thrombocytopenia; Autoimmune thrombocytopenia & Cerebral edema & Chronic CSF lymphocytosis & Gingival bleeding & Headaches & Seizures & Vasculitis & Visual impairment & Vomiting; Bleeding with minor or no trauma & Optic neuritis & Thrombocytopenia; Brain infiltration; Cough & Increased sputum production; Crohn's disease; Diarrhea; Diarrhea & Megaloblastic anemia & Pancytopenia; Enteropathy; Gastrointestinal lymphocytic infiltration & Growth delay & Hypoalbuminemia & Protein-losing enteropathy; Graft Versus Host Disease; Granulomatous-lymphocytic interstitial lung disease & Lymphadenopathy; Hematopoietic stem cell transplantation; Hypogammaglobulinemia & Rheumatoid arthritis; Lung disease; Lymphadenopathy; Malnutrition; Nervous system abnormality; Polyarthritis; Pulmonary fibrosis; Pure red cell aplasia; Splenomegaly; unspecified. Absent (19) for Abdominal pain & Diarrhea & Fever; Autoimmune enteropathy & Autoimmune hepatitis & Diarrhea & Megaloblastic anemia; Autoimmune enteropathy & Diarrhea; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia & Enteropathy; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia & Lymphadenopathy; Autoimmune thrombocytopenia; Bowel incontinence; Crohn's disease; Cytomegalovirus colitis; Diarrhea; Diarrhea & Enteropathy; Enteropathy; Hematopoietic stem cell transplantation; Joint swelling & Rheumatoid arthritis; Pancytopenia; Psoriasiform dermatitis; Pulmonary fibrosis; unspecified. Excelent/Remision (16) for Abdominal pain & Diarrhea & Fever; Abnormal weight loss & Diarrhea; Autoimmune cytopenia; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Bone marrow hypocellularity; Coombs Test Positive; Diarrhea; Diarrhea & Full cheeks & Joint swelling & Lymphadenopathy & Swelling of proximal interphalangeal joints; Diffuse large B-cell lymphoma; Hodgkin lymphoma; Juvenile rheumatoid arthritis; Psoriasiform dermatitis; Pure red cell aplasia; Splenomegaly. Negative/Bad (8) for (unusual) Epstein-Barr virus infection; (unusual) Respiratory tract infection & Agranulocytosis & Neutropenia; Autoimmune cytopenia; Diarrhea; Graft Versus Host Disease; Lymphopenia; unspecified. Mild (7) for Autoimmune thrombocytopenia; Autoimmune thrombocytopenia & Paraparesis; Brain imaging abnormality; Diarrhea; Interstitial lung disease; Lymphocytic colitis; Nervous system abnormality; Urinary incontinence. Moderate (6) for Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Diarrhea; Enteropathy; Hematopoietic stem cell transplantation; Intestinal adenocarcinoma; Paraparesis
Infliximab Absent (4) for Abdominal pain & Diarrhea & Fever; Crohn's disease; Enteropathy; unspecified. Good (2) for Autoimmune hemolytic anemia & Crohn's disease & Neutropenia & Thrombocytopenia; Diarrhea. Unspecified (2) for unspecified
Anti-TNF drug Unspecified (3) for Enteropathy; unspecified. Absent (2) for Diarrhea; Enteropathy. Good (1) for Autoimmune hemolytic anemia & Crohn's disease & Neutropenia & Thrombocytopenia; Crohn's disease
Adalimumab Absent (1) for unspecified. Moderate (1) for Polyarthritis
Corticosteroids Unspecified (24) for Autoimmune cytopenia & Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Autoimmune thrombocytopenia; Crohn's disease; Diabetes insipidus; Enteropathy; Graft Versus Host Disease; Hematopoietic stem cell transplantation; Hepatitis; unspecified. Good (16) for Abnormal lymphoproliferation; Abnormal lymphoproliferation & Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Autoimmune cytopenia; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autoimmune thrombocytopenia & Cerebral edema & Chronic CSF lymphocytosis & Gingival bleeding & Headaches & Seizures & Vasculitis & Visual impairment & Vomiting; Diarrhea; Enteropathy; Graft Versus Host Disease; Hematopoietic stem cell transplantation; Malnutrition; Nervous system abnormality; Pulmonary fibrosis. Absent (15) for Abdominal pain & Diarrhea & Fever; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia & Lymphadenopathy; Autoimmune thrombocytopenia; Bowel incontinence; Crohn's disease; Diarrhea & Enteropathy; Enteropathy; Hematopoietic stem cell transplantation; Joint swelling & Rheumatoid arthritis; Pancytopenia; Psoriasiform dermatitis; unspecified. Mild (6) for Autoimmune thrombocytopenia & Paraparesis; Brain imaging abnormality; Diarrhea; Interstitial lung disease; Lymphocytic colitis; Urinary incontinence. Excelent/Remision (6) for Abnormal weight loss & Diarrhea; Autoimmune cytopenia; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Bone marrow hypocellularity; Diarrhea. Negative/Bad (3) for Diarrhea; unspecified. Moderate (3) for Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Diarrhea; Paraparesis
Mesalamine Absent (2) for Crohn's disease. Unspecified (1) for unspecified
Azathioprine Absent (3) for Abdominal pain & Diarrhea & Fever; Autoimmune enteropathy & Diarrhea; Diarrhea. Unspecified (3) for Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; unspecified. Moderate (1) for Autoimmune hemolytic anemia & Autoimmune thrombocytopenia. Good (1) for Autoimmune hepatitis
Methotrexate Unspecified (3) for Colitis; Hematopoietic stem cell transplantation; unspecified. Absent (2) for Crohn's disease; Diarrhea. Mild (1) for Autoimmune thrombocytopenia. Excelent/Remision (1) for Psoriasiform dermatitis
Ustekinumab Moderate (1) for Intestinal adenocarcinoma
Prednisolone Absent (5) for Autoimmune enteropathy & Autoimmune hepatitis & Diarrhea & Megaloblastic anemia; Chronic diarrhea; Psoriasiform dermatitis; Pulmonary fibrosis; unspecified. Good (5) for Autoimmune hemolytic anemia & Enteropathy; Autoimmune thrombocytopenia; Diarrhea; Graft Versus Host Disease; Granulomatous-lymphocytic interstitial lung disease & Lymphadenopathy. Unspecified (5) for Autoimmune hepatitis; unspecified. Excelent/Remision (4) for Abnormal weight loss & Diarrhea; Autoimmune cytopenia; Diarrhea; Diffuse large B-cell lymphoma. Mild (2) for Colitis; Lymphocytic colitis
Methylprednisolone Unspecified (3) for unspecified. Good (2) for Autoimmune hemolytic anemia; Graft Versus Host Disease. Absent (1) for Bowel incontinence. Moderate (1) for Brain imaging abnormality & Paraparesis
Dexamethasone Absent (2) for Autoimmune thrombocytopenia; unspecified
Alemtuzumab Good (3) for Hematopoietic stem cell transplantation; Hematopoietic stem cell transplantation & unspecified. Absent (2) for Abnormal lymphoproliferation; unspecified
Biological agents Unspecified (9) for Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Autoimmunity; Hematopoietic stem cell transplantation; unspecified. Good (8) for Autoimmune hemolytic anemia; Cerebral edema & Chronic CSF lymphocytosis & Headaches & Vomiting; Diarrhea; Enteropathy; Hematopoietic stem cell transplantation; Hematopoietic stem cell transplantation & unspecified; Pancytopenia. Absent (6) for Abdominal pain & Diarrhea & Fever; Abnormal lymphoproliferation; Crohn's disease; Pure red cell aplasia; unspecified. Negative/Bad (2) for Burkitt lymphoma; unspecified. Mild (2) for Autoimmune thrombocytopenia; Nervous system abnormality. Moderate (2) for Intestinal adenocarcinoma; Polyarthritis. Excelent/Remision (2) for (unusual) Epstein-Barr virus infection; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia
Monoclonal antibodies Unspecified (9) for Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Autoimmunity; Hematopoietic stem cell transplantation; unspecified. Good (8) for Autoimmune hemolytic anemia; Cerebral edema & Chronic CSF lymphocytosis & Headaches & Vomiting; Diarrhea; Enteropathy; Hematopoietic stem cell transplantation; Hematopoietic stem cell transplantation & unspecified; Pancytopenia. Absent (6) for Abdominal pain & Diarrhea & Fever; Abnormal lymphoproliferation; Crohn's disease; Pure red cell aplasia; unspecified. Negative/Bad (2) for Burkitt lymphoma; unspecified. Mild (2) for Autoimmune thrombocytopenia; Nervous system abnormality. Moderate (2) for Intestinal adenocarcinoma; Polyarthritis. Excelent/Remision (2) for (unusual) Epstein-Barr virus infection; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia
Sirolimus Good (14) for Abnormal lymphoproliferation & Bone marrow hypocellularity; Autoimmune cytopenia; Autoimmune thrombocytopenia; Cytomegalovirus Infection Reactivation & Hypogammaglobulinemia & Lymphadenopathy & Splenomegaly; Diarrhea; Enteropathy; Graft Versus Host Disease; Lung disease; Pure red cell aplasia; Splenomegaly; unspecified. Unspecified (6) for B-cell lymphoma; unspecified. Negative/Bad (5) for Autoimmune cytopenia; Colitis & Psoriasiform dermatitis; Lymphopenia; unspecified. Absent (3) for Autoimmune enteropathy & Autoimmune hepatitis & Diarrhea & Megaloblastic anemia; Crohn's disease; Enteropathy. Moderate (1) for Intestinal adenocarcinoma
Tacrolimus Absent (3) for Autoimmune enteropathy & Autoimmune hepatitis & Diarrhea & Megaloblastic anemia; Crohn's disease. Unspecified (3) for Hematopoietic stem cell transplantation; unspecified. Good (1) for Granulomatous-lymphocytic interstitial lung disease & Lymphadenopathy
Rituximab Unspecified (12) for Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Autoimmunity; B-cell lymphoma; Hematopoietic stem cell transplantation; unspecified. Absent (5) for Autoimmune cytopenia; Crohn's disease; Persistent EBV viremia; unspecified. Good (4) for Autoimmune hemolytic anemia; Cerebral edema & Chronic CSF lymphocytosis & Headaches & Vomiting; Enteropathy; Pancytopenia. Negative/Bad (3) for Burkitt lymphoma; Diarrhea & Helicobacter pylori infection; unspecified. Excelent/Remision (3) for (unusual) Epstein-Barr virus infection; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Diffuse large B-cell lymphoma. Mild (1) for Autoimmune thrombocytopenia. Moderate (1) for Autoimmune cytopenia
Mycophenolate mofetil Unspecified (8) for Autoimmune cytopenia; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Hematopoietic stem cell transplantation; unspecified. Good (3) for Hematopoietic stem cell transplantation; Polyarthritis. Negative/Bad (1) for Graft Versus Host Disease. Absent (1) for Crohn's disease
Intravenous immunoglobulin therapy Unspecified (30) for Autoimmune hemolytic anemia & Autoimmune thrombocytopenia & Combined immunodeficiency; Autoimmune thrombocytopenia & Lymphoid hyperplasia & Neutropenia; Autoimmunity; Colitis & Psoriasiform dermatitis; Diabetes insipidus; Hematopoietic stem cell transplantation; Hypogammaglobulinemia; Immunodeficiency; unspecified. Good (7) for Autoimmune thrombocytopenia; Autoimmune thrombocytopenia & Gingival bleeding & Headaches & Seizures & Visual impairment; Decreased IgG levels; Granulomatous-lymphocytic interstitial lung disease & Lymphadenopathy; Lymphadenopathy; Recurrent upper respiratory tract infection; Unusual infection. Absent (6) for Autoimmune hemolytic anemia & Autoimmune thrombocytopenia & Lymphadenopathy; Autoimmune thrombocytopenia; Chronic diarrhea; Cytomegalovirus colitis & Diarrhea; Interstitial lung disease; Thrombocytopenia. Mild (2) for Autoimmune thrombocytopenia & Paraparesis; Decreased IgG levels. Moderate (1) for Hypogammaglobulinemia
Lobectomy Unspecified (1) for Pneumatocele
Appendectomy Excelent/Remision (1) for Diarrhea
Cyclosporine Unspecified (7) for Autoimmune cytopenia; Hematopoietic stem cell transplantation; Psoriasiform dermatitis; unspecified. Good (4) for Granulomatous-lymphocytic interstitial lung disease & Lymphadenopathy; Hematopoietic stem cell transplantation. Absent (3) for Abdominal pain & Diarrhea & Fever; Autoimmune enteropathy & Autoimmune hepatitis & Diarrhea & Megaloblastic anemia; Pulmonary fibrosis. Negative/Bad (1) for Graft Versus Host Disease. Mild (1) for Autoimmune thrombocytopenia. Excelent/Remision (1) for Pure red cell aplasia
Budesonide Unspecified (4) for Enteropathy; unspecified. Good (1) for Autoimmune hemolytic anemia & Crohn's disease & Neutropenia & Thrombocytopenia
Antibiotics Unspecified (4) for Abscess & Pancreatitis; Recurrent E. coli infections; Recurrent upper respiratory tract infection; unspecified. Absent (2) for Cytomegalovirus colitis; Pancytopenia. Good (2) for Arthritis; Sinusitis
Trimethoprim Unspecified (1) for Recurrent upper respiratory tract infection
Sulfamethoxazole Unspecified (1) for Recurrent upper respiratory tract infection
Doxycycline Good (1) for Arthritis
Blood transfusion Unspecified (2) for Pure red cell aplasia. Mild (1) for Pancytopenia
Tube feeding Unspecified (4) for Diarrhea; Enteropathy; Failure to thrive. Absent (1) for Diarrhea
Anti-Inflammatory agents Absent (6) for Autoimmune enteropathy & Autoimmune hepatitis & Diarrhea & Megaloblastic anemia; Chronic diarrhea; Crohn's disease; Protein-losing enteropathy; Pulmonary fibrosis. Unspecified (6) for Autoimmune hepatitis; unspecified. Good (3) for Autoimmune hemolytic anemia & Crohn's disease & Neutropenia & Thrombocytopenia; Autoimmune hemolytic anemia & Enteropathy; Granulomatous-lymphocytic interstitial lung disease & Lymphadenopathy. Excelent/Remision (2) for Abnormal weight loss & Diarrhea; Diffuse large B-cell lymphoma. Mild (1) for Colitis. Moderate (1) for Brain imaging abnormality & Paraparesis
Lung transplant Negative/Bad (1) for Lung disease. Absent (1) for Pulmonary fibrosis. Mild (1) for Pulmonary Hypertension
splenectomy Unspecified (5) for Abnormal lymphoproliferation & Splenomegaly; Autoimmune cytopenia; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia
Cyclophosphamide Absent (2) for Crohn's disease; Pulmonary fibrosis. Good (1) for Cerebral edema & Chronic CSF lymphocytosis & Headaches & Vomiting. Excelent/Remision (1) for Diffuse large B-cell lymphoma. Unspecified (1) for Autoimmune cytopenia
Anti-neoplastic agents Absent (7) for Autoimmune cytopenia; Autoimmune enteropathy & Autoimmune hepatitis & Diarrhea & Megaloblastic anemia; Crohn's disease; Enteropathy; Persistent EBV viremia; unspecified. Unspecified (6) for B-cell lymphoma; Hematopoietic stem cell transplantation; unspecified. Good (5) for Abnormal lymphoproliferation & Bone marrow hypocellularity; Cerebral edema & Chronic CSF lymphocytosis & Headaches & Vomiting; Cytomegalovirus Infection Reactivation & Hypogammaglobulinemia & Lymphadenopathy & Splenomegaly; Graft Versus Host Disease; unspecified. Negative/Bad (3) for Colitis & Psoriasiform dermatitis; Diarrhea & Helicobacter pylori infection; unspecified. Moderate (1) for Autoimmune cytopenia. Excelent/Remision (1) for Diffuse large B-cell lymphoma
Iron supplementation Excelent/Remision (1) for Anemia
Gluten free diet Moderate (1) for Celiac disease. Good (1) for Diarrhea
Mercaptopurine Absent (2) for Crohn's disease. Unspecified (1) for unspecified
Gastrectomy Excelent/Remision (3) for Gastric adenocarcinoma. Unspecified (2) for Gastric adenocarcinoma; Neoplasm of the stomach. Absent (1) for Diarrhea & Enterocolitis
Surgery Unspecified (12) for Abnormal lymphoproliferation & Splenomegaly; Autoimmune cytopenia; Autoimmune hemolytic anemia; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Colitis; Gastric adenocarcinoma; Neoplasm of the stomach; Pneumatocele; unspecified. Excelent/Remision (5) for Diarrhea; Gastric adenocarcinoma; Sarcoma. Negative/Bad (3) for Lung disease; unspecified. Absent (3) for Diarrhea & Enterocolitis; Melanoma; Pulmonary fibrosis. Mild (2) for Gastric adenocarcinoma; Pulmonary Hypertension. Good (1) for Colon cancer
Colectomy Negative/Bad (1) for unspecified. Unspecified (1) for Colitis
lymphadenectomy Excelent/Remision (1) for Gastric adenocarcinoma
Levothyroxine Unspecified (2) for Hypothyroidism
Hematopoietic stem cell transplantation Good (7) for Alopecia & Diarrhea & Unusual infection; Autoimmune cytopenia; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia & Encephalitis; Enteropathy; unspecified. Excelent/Remision (6) for Autoimmune cytopenia; Autoimmune cytopenia & Enteropathy; Autoimmune cytopenia & Lymphoproliferative disorder; Autoimmune hemolytic anemia & Lymphadenopathy & Pancytopenia; Hodgkin lymphoma; Hodgkin lymphoma & macrophage activation syndrome. Unspecified (6) for Enteropathy; unspecified. Moderate (1) for Enteropathy
Ganciclovir Unspecified (4) for Abnormality of the gastric mucosa; Cytomegalovirus infection. Mild (1) for Cytomegalovirus colitis. Good (1) for Cytomegalovirus infection & Gastritis & Helicobacter pylori infection
Proton Pump Inhibitor Absent (1) for Abnormality of the gastric mucosa
Insulin Unspecified (2) for Type I diabetes mellitus
Drainage Unspecified (1) for Abscess & Pancreatitis
Abatacept Good (13) for Abnormal weight loss & Diarrhea & Enteropathy; Abnormal weight loss & Diarrhea & Graft Versus Host Disease; Acne inversa & Autoimmune hepatitis & Crohn's disease; Autoimmune hemolytic anemia & Thrombocytopenia; Autoimmune thrombocytopenia; Bleeding with minor or no trauma & Optic neuritis & Thrombocytopenia; Cough & Increased sputum production; Diarrhea & Megaloblastic anemia & Pancytopenia; Gastrointestinal lymphocytic infiltration & Growth delay & Hypoalbuminemia & Protein-losing enteropathy; Hypogammaglobulinemia & Rheumatoid arthritis; Lung disease; Lymphadenopathy. Unspecified (7) for unspecified. Excelent/Remision (4) for Coombs Test Positive; Diarrhea & Full cheeks & Joint swelling & Lymphadenopathy & Swelling of proximal interphalangeal joints; Juvenile rheumatoid arthritis; Splenomegaly. Negative/Bad (3) for (unusual) Epstein-Barr virus infection; (unusual) Respiratory tract infection & Agranulocytosis & Neutropenia; unspecified
Valganciclovir Negative/Bad (2) for Cytomegalovirus infection
Calcineurin Inhibitor Unspecified (4) for Hematopoietic stem cell transplantation. Good (2) for Hematopoietic stem cell transplantation. Absent (1) for Hematopoietic stem cell transplantation. Moderate (1) for Hematopoietic stem cell transplantation
Cholecystectomy Unspecified (2) for Autoimmune hemolytic anemia; unspecified
Chemotherapy Excelent/Remision (5) for Diffuse large B-cell lymphoma; Hodgkin lymphoma. Negative/Bad (2) for Diffuse large B-cell lymphoma; Hodgkin lymphoma. Unspecified (2) for Multiple myeloma; unspecified. Mild (1) for Burkitt lymphoma
Vincristine Excelent/Remision (1) for Diffuse large B-cell lymphoma
Intra-articular steroid injections Unspecified (1) for Polyarthritis & unspecified
Anti-thymocyte globulin Excelent/Remision (1) for Abdominal pain & Diarrhea & Fever
Vedolizumab Absent (2) for Protein-losing enteropathy; Pure red cell aplasia. Excelent/Remision (1) for Abnormal weight loss & Diarrhea
Intravenous nutrition Unspecified (1) for Dehydration
Tamsulosin Unspecified (1) for unspecified
Nitrofurantoin Unspecified (1) for unspecified
Hip replacement Negative/Bad (1) for unspecified
transurethral Prostate resection Negative/Bad (1) for unspecified
Antiviral agent Unspecified (4) for Abnormality of the gastric mucosa; Cytomegalovirus infection. Negative/Bad (2) for Cytomegalovirus infection. Mild (1) for Cytomegalovirus colitis. Good (1) for Cytomegalovirus infection & Gastritis & Helicobacter pylori infection
Alpha-blocker Unspecified (1) for unspecified
Anti-diabetic Agent Unspecified (3) for Type I diabetes mellitus
Plasmapheresis Mild (1) for Autoimmune thrombocytopenia. Unspecified (1) for unspecified
Intramuscular vitamin B12 Excelent/Remision (1) for Anemia & Lymphadenopathy
Dialysis Unspecified (1) for Renal insufficiency
Hyper-CVAD Unspecified (2) for unspecified
Testosterone enanthate Unspecified (1) for unspecified
Diet Moderate (1) for Celiac disease. Good (1) for Diarrhea

Please mind that full curation of this condition has not been completed yet. It is currently ongoing.