Abnormal T cell count

Basic details

Preferred term: Abnormal T cell count
Alt. terms: Abnormality of T cell number | Abnormal number of T cells

HPO term: Abnormal T cell count
HPO code: HP:0011839

GenIA ID: 651
Last updated on: 2021-12-06 09:20:57

Cross ref. with other ontologies

NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -

Description

A deviation (above or below) from the normal count of T cells.

Hierarchical classification

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
101023 M 210731 - German Reduced T cell count PMID:34975878 [Fam.F008:P008]
101121 M 210784 - German Reduced T cell count PMID:34975878 [Fam.F072:P072]
101132 M 210304 - German Reduced T cell count PMID:34975878 [Fam.F081:P081]
101136 M 210356 - Reduced T cell count PMID:34975878 [Fam.F085:P085]
101191 M 212375 - Egyptian Reduced T cell count Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES14]
101481 U 212455 - Italian Reduced T cell count Severe combined immunodeficiency 9A, T-B- PMID:20547828 [OS6]
101501 F 212459 - British Reduced T cell count Activated p110-delta syndrome 1 PMID:24136356 [Fam.A:II.2(P4)]
101509 F 212459 - British Reduced T cell count Activated p110-delta syndrome 1 PMID:24136356 [Fam.A:III.2(P1)]
101511 M 212459 - British Reduced T cell count Activated p110-delta syndrome 1 PMID:24136356 [Fam.A:III.3(P2)]
101512 M 212459 - British Reduced T cell count Activated p110-delta syndrome 1 PMID:24136356 [Fam.A:III.4(P3)]
101530 M 212460 - British Reduced T cell count Activated p110-delta syndrome 1 PMID:24136356 [Fam.B:III.3(P5)]
101532 F 212460 - British Reduced T cell count Activated p110-delta syndrome 1 PMID:24136356 [Fam.B:III.5(P6)]
101538 F 212460 - British Reduced T cell count Activated p110-delta syndrome 1 PMID:24136356 [Fam.B:IV.3(P7)]
101541 M 212461 - Slovenian Reduced T cell count Activated p110-delta syndrome 1 PMID:24136356 [Fam.C:II.1(P8)]
101548 M 212462 - Irish Reduced T cell count Activated p110-delta syndrome 1 PMID:24136356 [Fam.D:III.1(P9)]
101549 F 212463 - British Reduced T cell count Activated p110-delta syndrome 1 PMID:24136356 [Fam.E:I.1(P13)]
101552 M 212464 - French Reduced T cell count Activated p110-delta syndrome 1 PMID:24136356 [Fam.F:II.1(P14)]
101563 M 212465 - French Reduced T cell count Activated p110-delta syndrome 1 PMID:24136356 [Fam.G:II.4(P17)]
101596 M 212618tree icon 1 Jewish Reduced T cell count ARPC1B deficiency PMID:29127144 [P1(II.1)]
101601 M 212619tree icon - Italian Reduced T cell count ARPC1B deficiency PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2]
101604 M 212620tree icon - Italian Reduced T cell count ARPC1B deficiency PMID:30254128 [Fam.B:II.1(P2)]; PMID:30771411 [P3]; PMID:35967303 [Pt1]; PMID:35767111 [P1]
101608 M 212621tree icon - Canadian Reduced T cell count ARPC1B deficiency PMID:30254128 [Fam.C:II.1(P3)]; PMID:16019263 [case]; PMID:35967303 [Pt3]
101611 M 212622tree icon - Colombian Reduced T cell count ARPC1B deficiency PMID:30254128 [Fam.D:II.4(P4)]
101617 M 210994 - Reduced T cell count Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F212:P212]
101622 F 212623tree icon - Moroccan Reduced T cell count ARPC1B deficiency PMID:30254128 [Fam.E:II.1(P5)]
101652 M 212629tree icon 3 Nepalese Reduced T cell count ARPC1B deficiency PMID:30771411 [P4(II.1)]
101667 M 212631tree icon 6 Moroccan Reduced T cell count ARPC1B deficiency PMID:30771411 [P6(II.2)]; PMID:35767111 [P5]
101974 F 214053tree icon 30 Turkish Increased T cell count Hyper-IgE recurrent infection syndrome 3 PMID:29907690 [Fam.D:IV.3(D.II.2)]
101975 F 214053tree icon 35 Turkish Increased T cell count Hyper-IgE recurrent infection syndrome 3 PMID:29907690 [Fam.D:IV.2(D.II.1)]; PMID:34390440 [HIES53]; PMID:31980991 [Case]
102119 M 214343 - Egyptian Reduced T cell count Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES15]
102142 M 214393tree icon 16 North American Increased T cell count Immunodeficiency, common variable, 14 PMID:27016798 [Fam.Patient:III.2(B)]; PMID:37876937 [Fam.A:III.2(A.2)]
102250 M 214924tree icon 1 Afghanistani Reduced T cell count ARPC1B deficiency PMID:33679784 [II-6(II.6)]; PMID:35767111 [P7]
102289 M 214934tree icon 0 Moroccan Reduced T cell count Otofaciocervical syndrome 2 PMID:28657137 [V:1(V.1)]; PMID:32111619 [Fam.B:V.4(P2)]
102294 F 214934tree icon 0 Moroccan Reduced T cell count Otofaciocervical syndrome 2 PMID:28657137 [Fam.V:1:V.18(V:18)]; PMID:32111619 [Fam.B:V.2(P3)]
102357 M 214937tree icon 1 German Reduced T cell count Otofaciocervical syndrome 2 PMID:32111619 [Fam.A:II.1(P1)]
102396 F 214944tree icon 1 Saudi Increased T cell count Otofaciocervical syndrome 2 PMID:32111619 [Fam.C:IV.4(P5)]
102397 F 214944tree icon 0 Saudi Reduced T cell count Otofaciocervical syndrome 2 PMID:32111619 [Fam.C:IV.5(P6)]
102398 F 214944tree icon 0 Saudi Reduced T cell count Otofaciocervical syndrome 2 PMID:32111619 [Fam.C:V.2(P4)]
102677 M 214980tree icon 19 Pakistani Reduced T cell count JAK1 deficiency PMID:28008925 [Patient(II.4)]
102731 F 214982tree icon 8 Colombian Reduced T cell count Immunodeficiency 99 PMID:32484799 [Patient(II.2)]
102814 U 214993tree icon 1 Caucasian Reduced T cell count SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation PMID:16439205 [Patient]; PMID:12604777 [2BN(II.1)]
102818 M 214993tree icon 4 Caucasian Reduced T cell count SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation PMID:12604777 [Fam.2BN:II.2(3BN)]
102871 F 215001tree icon 1 Italian Reduced T cell count T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:8911612 [A.D.]; PMID:10206641 [Patient(II.2)]; PMID:33464451 [P1(II.2)]; PMID:28077132 [Fam.1:II.2(P1)]
102881 F 215003tree icon 1 Portuguese Reduced T cell count T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:20978268 [Fam.1:II.1(P1)]; PMID:33464451 [P3]; PMID:28077132 [P7]; PMID:22590644 [Patient(II.1)]
102884 M 215004tree icon 0 Admixed Reduced T cell count T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:20978268 [Fam.2:II.1(P2)]; PMID:33464451 [P4]; PMID:22721479 [Patient]; PMID:28077132 [P8]
102887 F 215005tree icon 0 Lebanese Reduced T cell count T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:25173801 [Patient(II.1)]; PMID:33464451 [P5]; PMID:28077132 [P9]
102891 F 215006tree icon 0 Indian Reduced T cell count T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:28636882 [Patient(II.3)]; PMID:33464451 [P6]
102897 M 215007tree icon 0 Turkish Reduced T cell count T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:30903456 [P1(II.1)]; PMID:33464451 [P12(II.1)]; PMID:37419334 [P12(27)]
102898 M 215007tree icon - Turkish Reduced T cell count PMID:30903456 [Fam.P1:I.1(father)]
102899 F 215007tree icon - Turkish Reduced T cell count PMID:30903456 [Fam.P1:I.2(mother)]
102900 F 215007tree icon 1 Turkish Reduced T cell count T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:30903456 [Fam.P1:II.2(P2)]; PMID:33464451 [Fam.P12:II.2(P13)]; PMID:37419334 [P13(27)]
102911 M 215012 - Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P1]; PMID:37419334 [P1(22)]
102912 M 215013 - Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P2(II.1)]; PMID:37419334 [P2(22)]
102913 M 215014 - Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P3]
102915 F 215016 - Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P4]; PMID:37419334 [P4(22)]
102916 F 215017 - Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P5]; PMID:37419334 [P5(22)]
102917 M 215018 - Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P6]; PMID:37419334 [P6(22)]
102918 F 215019 0 Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P7]; PMID:37419334 [P7(22)]
102919 F 215020 0 Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P8(II.1)]; PMID:37419334 [P8(22)]
102920 F 215021 0 Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P9]; PMID:37419334 [P9(22)]
102921 M 215022 0 Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P10]
102922 F 215023 0 Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P11]
102923 F 215024 0 Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P12]
102924 M 215025 0 Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P13]
102925 M 215026 0 Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P14]; PMID:37419334 [P14(22)]
102926 M 215027 0 Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P15(II.1)]; PMID:37419334 [P15(22)]
102927 M 215028 - Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P16]; PMID:37419334 [P16(22)]
102928 M 215029 0 Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P17]
102929 F 215030 0 Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P18]; PMID:37419334 [P18(22)]
102930 F 215031 0 Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P19]; PMID:37419334 [P19(22)]
102931 F 215032 0 Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P20]; PMID:37419334 [P20(22)]
102932 M 215033 0 Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P21]; PMID:37419334 [P21(22)]
102933 M 215034 0 Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P22]; PMID:37419334 [P22(22)]
102934 F 215035tree icon 0 Caucasian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P23]; PMID:33464451 [P14(III.1)]; PMID:37419334 [P23(22)]
102935 M 215035tree icon 0 Caucasian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P24]; PMID:33464451 [Fam.P14:III.2(P15)]; PMID:37419334 [P15(27)]
102936 M 215037 0 Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P25]; PMID:37419334 [P25(22)]
102937 F 215038 - Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P26]
102938 F 215013 - Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [Fam.P2:I.1(P27)]
102939 F 215027 - Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [Fam.P15:I.1(P28)]
102940 M 215039 - Italian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P31]; PMID:37419334 [P31(22)]
102941 F 215040 - Italian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P32]; PMID:37419334 [P32(22)]
102942 F 215041 - Italian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P33]; PMID:37419334 [P33(22)]
102943 F 215042 - Italian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P34]; PMID:37419334 [P34(22)]
102944 F 215043 - Italian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P35]; PMID:37419334 [P35(22)]
102945 F 215044 - Italian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P36]; PMID:37419334 [P36(22)]
102946 F 215045 - Italian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P37]; PMID:37419334 [P37(22)]
102947 F 215046 - Italian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P38]; PMID:37419334 [P38(22)]
102948 F 215047 - Italian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P39]; PMID:37419334 [P39(22)]
102949 M 215048 - Italian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P40]; PMID:37419334 [P40(22)]
102950 M 215049 - Italian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P41]; PMID:37419334 [P41(22)]
102951 M 215050 - Italian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P42]; PMID:37419334 [P42(22)]
102952 F 215051 - Italian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P43]; PMID:37419334 [P43(22)]
102953 F 215052 - Italian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P44]; PMID:37419334 [P44(22)]
102954 M 215053 - Italian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P45]; PMID:37419334 [P45(22)]
102955 M 215054 - Italian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P46]; PMID:37419334 [P46(22)]
102956 F 215055 - Italian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P47]; PMID:37419334 [P47(22)]
102957 F 215056 - Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P29]
102958 F 215020 - Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [Fam.P8:I.1(P30)]
102962 F 215058tree icon 0 North American Reduced T cell count T-cell immunodeficiency with thymic aplasia PMID:31566583 [P1(II.1)]; PMID:37419334 [P1]
102965 F 215059tree icon 0 North American Reduced T cell count T-cell immunodeficiency with thymic aplasia PMID:31566583 [P2(II.1)]; PMID:37419334 [P2]
102968 U 215060 - North American Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P3]; PMID:37419334 [P3]
102969 U 215061 0 North American Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P4]; PMID:37419334 [P4]
102970 U 215062 0 North American Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P5]; PMID:37419334 [P5]
102971 U 215063 0 North American Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P6]; PMID:37419334 [P6]
102972 U 215064 0 North American Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P7]; PMID:37419334 [P7]
102973 U 215065 0 North American Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P8]; PMID:37419334 [P8]
102974 U 215066 0 North American Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P9]; PMID:37419334 [P9]
102975 U 215067 0 North American Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P10]; PMID:37419334 [P10]
102976 U 215068 0 North American Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P11]; PMID:37419334 [P11]
102977 U 215069 0 North American Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P12]; PMID:37419334 [P12]
102978 U 215070 0 North American Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P13]; PMID:37419334 [P13]
102979 U 215071 0 North American Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P14]; PMID:37419334 [P14]
102980 U 215072 0 North American Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P15]; PMID:37419334 [P15]
102981 U 215073 0 North American Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P16]; PMID:37419334 [P16]
102987 F 215075tree icon 14 Austrian Reduced T cell count Immunodeficiency 97 PMID:33054089 [Patient(II.1)]
103062 M 215096tree icon 7 Finnish Reduced T cell count Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F2:II.2(P3)]
103285 F 215112tree icon 1 Ashkenazi Jewish Increased T cell count Immunodeficiency 82 with systemic inflammation PMID:33782605 [Fam.2:II.1(P2)]
103286 M 215112tree icon 1 Ashkenazi Jewish Reduced T cell count Immunodeficiency 82 with systemic inflammation PMID:33782605 [Fam.2:I.1(P3)]
103292 F 215114 52 German Reduced T cell count Immunodeficiency 82 with systemic inflammation PMID:33782605 [P5]
103462 F 215132tree icon 0 Moroccan Reduced T cell count ARPC1B deficiency PMID:35767111 [P4(II.2)]
103541 M 215155tree icon 2 Mexican Reduced T cell count ARPC1B deficiency PMID:36708766 [Fam.B:II.1(P4)]
103547 M 215157tree icon - Mexican Reduced T cell count ARPC1B deficiency PMID:36708766 [Fam.D:II.4(P6)]
103877 F 215266tree icon 15 Finnish Increased T cell count Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2]
103997 M 215318tree icon - Reduced T cell count Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P1]; PMID:30092289 [P16]
104003 F 215324 - Reduced T cell count Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P7]
104004 F 215325 - Reduced T cell count Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P8]
104226 F 215419tree icon - Spanish Reduced T cell count Tubulointerstitial kidney disease type 5 PMID:33185949 [case(II.1)]
104392 F 215520tree icon 2 French Increased T cell count Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36122175 [Patient]
104410 M 215525tree icon 1 Japanese Increased T cell count Early-onset atopic inflammation PMID:36538978 [Patient(II.2)]
104414 M 215526tree icon 8 Turkish Increased T cell count Early-onset atopic inflammation PMID:36758835 [Patient(V.3)]
104519 F 215537 - Gypsy Reduced T cell count ARPC1B deficiency PMID:31379835 [P1]
104522 F 215539 - Gypsy Reduced T cell count ARPC1B deficiency PMID:31379835 [P4]
104533 M 215545tree icon - Caucasian Reduced T cell count X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.B:II.1(Patient B)]
104540 M 215549tree icon - North African Reduced T cell count X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.F:II.1(Patient F)]
104685 F 215571tree icon - Iranian Reduced T cell count Severe early onset systemic inflammation and autoimmunity PMID:37382373 [Fam.1:VI.6(VI.5)]
104713 M 215571tree icon - Iranian Reduced T cell count Severe early onset systemic inflammation and autoimmunity PMID:37382373 [Fam.1:VI.5(VI.4)]
104715 M 215572tree icon - French Increased T cell count Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [V-1(V.1)]
104741 M 215572tree icon - French Increased T cell count Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:III.6]
104773 F 215572tree icon - French Increased T cell count Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:IV.7]
104782 M 215572tree icon 1 French Increased T cell count Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:V.2]
104786 F 215573tree icon 13 Reduced T cell count CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.A:II.1(A.II.1)]; PMID:27418640 [P2(4)]
104791 M 215575tree icon 15 Reduced T cell count CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.C:II.1(C.II.1)]; PMID:27418640 [P4(4)]
104797 M 215577tree icon 6 Reduced T cell count CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)]
104845 F 215579tree icon 48 European Reduced T cell count NFKB1 insufficiency PMID:32278790 [Fam.NZ:II.2(II.2)]; PMID:26279205 [Fam.NZ:II.2(II2)]; PMID:29403474 [Fam.NZ (5):II.2(II2)]; PMID:29806948 [Fam.NZ:II.2(II.2)]; PMID:30323807 [Fam.2:II.2(II.2)]; PMID:150198 [Fam.AC:II.2(109)]
104846 F 215580 0 Egyptian Reduced T cell count Omenn syndrome 2 PMID:30307608 [1]
105034 F 215628tree icon - Finnish Reduced T cell count Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25349174 [Fam.3:II.1(Patient 3)]
105051 F 215634tree icon - Increased T cell count Infantile-Onset Multisystem Autoimmune Disease 1 PMID:29180260 [Patient(II.1)]
105088 M 215638 35 Japanese Reduced T cell count CTLA4 haploinsufficiency with autoimmune infiltration 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]
105110 M 215644 - Reduced T cell count NFKB1 insufficiency PMID:27379089 [P3]; PMID:32278790 [U.I.3]; PMID:29403474 [Patient 3 (10)]; PMID:150198 [Fam.AH:145]
105112 F 215646 - Reduced T cell count NFKB1 insufficiency PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147]
105129 M 215647tree icon - Reduced T cell count NFKB1 insufficiency PMID:27379089 [Fam.1:c1(P1)]; PMID:32278790 [Fam.BA:II.1(II.1)]; PMID:29403474 [Fam.(10):c1(Patient 1)]; PMID:150198 [Fam.AG:IV.1(143)]
105149 M 215654tree icon 21 Chinese (China) Reduced T cell count Immunodeficiency, common variable, 14 PMID:37350971 [Patient(II.1)]; PMID:37876937 [Fam.E:II.1(E.1)]
105177 M 215661 16 Caucasian Reduced T cell count CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [L.II.2]; PMID:29729943 [Fam.L:II.2(L.II.2 (36))]; PMID:27102614 [Fam.C:II.2(4)]
105180 M 215662 18 Caucasian Increased T cell count CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)]
105185 M 215663 13 Reduced T cell count CTLA4 haploinsufficiency with autoimmune infiltration PMID:27102614 [Fam.E:III.1(6)]; PMID:30940614 [P7]
105190 F 215664 28 Caucasian Reduced T cell count CTLA4 haploinsufficiency with autoimmune infiltration PMID:27102614 [Fam.F:II.1(7)]
105191 F 215664 26 Caucasian Reduced T cell count CTLA4 haploinsufficiency with autoimmune infiltration PMID:27102614 [Fam.F:II.2(8)]
105204 M 215670tree icon - Reduced T cell count T-negative/B-positive SCID type 1 PMID:7659163 [Fam.1:II.1(G.M.)]
105273 F 215682 18 North American Increased T cell count CTLA4 haploinsufficiency with autoimmune infiltration GRID:000111 [Patient(I.1)]
105276 F 215684tree icon 1 Saudi Reduced T cell count Autoinflammation, panniculitis, and dermatosis syndrome 2 PMID:38914362 [Fam.O:II.1(113)]; PMID:38630025 [Fam.2:II.1(Patient 2)]
105308 F 215687tree icon - European Reduced T cell count NFKB1 insufficiency PMID:32278790 [Fam.D:II.2(II.2)]; PMID:29477724 [Fam.D:II.2(II:2)]; PMID:150198 [Fam.AX:II.2(260)]
105314 F 215689 - European Reduced T cell count NFKB1 insufficiency PMID:32278790 [F.II.1]; PMID:29477724 [Fam.F:II.1(II:1)]; PMID:150198 [Fam.AZ:265]; PMID:36105815 [V98D]
105315 F 215690 - European Reduced T cell count NFKB1 insufficiency PMID:32278790 [G.II.1]; PMID:29477724 [Fam.G:II.1(II:1)]; PMID:150198 [Fam.BA:266]; PMID:36105815 [I87S]
105316 U 215691 - European Increased T cell count NFKB1 insufficiency PMID:32278790 [H.II.1]; PMID:29477724 [Fam.H:II.1(II:1)]; PMID:150198 [Fam.BB:267]
105335 U 215697 - European Reduced T cell count NFKB1 insufficiency PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288]
105338 U 215700 - European Reduced T cell count NFKB1 insufficiency PMID:32278790 [K.II.1]; PMID:29477724 [Fam.K:II.1(II:1)]; PMID:150198 [Fam.BE:280]
105412 F 215762tree icon 27 Caucasian Reduced T cell count NFKB1 insufficiency PMID:32278790 [Fam.BB:I.1(I.1)]; PMID:30063981 [Fam.1:II.2(II.2)]; PMID:150198 [Fam.BM:II.3(300)]
105421 F 215762tree icon 6 Caucasian Reduced T cell count NFKB1 insufficiency PMID:32278790 [Fam.BB:II.1(II.1)]; PMID:30063981 [Fam.1:III.1(III.1)]; PMID:150198 [Fam.BM:III.1(301)]
105432 M 215767tree icon 33 Caucasian Reduced T cell count NFKB1 insufficiency PMID:150198 [Fam.BR:II.1(316)]; PMID:31803180 [Fam.A:II.1(S1)]; PMID:34619682 [P.200]
105529 M 215789 - Reduced T cell count Infantile-Onset Multisystem Autoimmune Disease 1 PMID:27379089 [P7]
105543 M 215797 40 Reduced T cell count CTLA4 haploinsufficiency with autoimmune infiltration PMID:28983403 [P7]
105549 F 215801 18 Caucasian Reduced T cell count CTLA4 haploinsufficiency with autoimmune infiltration PMID:29200144 [Fam.A:IV.1(P1)]
105934 M 215910tree icon 0 Reduced T cell count T-negative/B-positive SCID type 1 PMID:7659163 [Fam.2:II.1(C.M.)]; PMID:8676091 [Fam.1:II.1(C.M.)]
105943 M 215912tree icon - Colombian/Swiss Reduced T cell count Hyper-IgE recurrent infection syndrome 4A PMID:37273120 [Fam.C:II.1(P8)]
106090 M 215946tree icon 0 Saudi Reduced T cell count T-cell immunodeficiency with thymic aplasia PMID:33464451 [P11]; PMID:37419334 [P11(27)]; PMID:31151968 [Fam.1:II.2(Patient)]
106144 F 215953 0 Italian Reduced T cell count T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:33464451 [P8]; PMID:37419334 [P8(27)]
106145 M 215954 10 Slovak Reduced T cell count T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:33464451 [P9]; PMID:37419334 [P9(27)]
106150 F 215955 1 Turkish Reduced T cell count T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:33464451 [P10]
106156 M 215035tree icon 0 Caucasian Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:33464451 [Fam.P14:III.3(P18)]; PMID:37419334 [P18(27)]
106332 F 215988tree icon - Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:37419334 [P1(43)(II.2)]; PMID:34860543 [Fam.1:II.2(P1)]
106334 M 215988tree icon - Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:37419334 [P3(43)(I.2)]; PMID:34860543 [Fam.1:I.2]
106335 F 215988tree icon - Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:37419334 [P2(43)(II.1)]; PMID:34860543 [Fam.1:II.1]
106338 M 215991tree icon - Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:34860543 [Fam.2:II.2(P2)]
106363 F 216001tree icon 3 Argentinian Reduced T cell count Immunodeficiency 117 PMID:36736301 [Fam.A:II.1(P1)]
106646 M 216099 22 Reduced T cell count CTLA4 haploinsufficiency with autoimmune infiltration PMID:34628649 [Patient(III.1)]
106750 F 216121tree icon 0 Palestinian Reduced T cell count T-negative/B-positive SCID type 1 PMID:32921793 [Fam.B:II.1(P1-B)]
106753 F 216122tree icon 1 Chinese (China) Reduced T cell count T-negative/B-positive SCID type 1 PMID:31309596 [Pt(II.2)]
106760 M 216123tree icon 0 Israeli Reduced T cell count X-linked severe combined immunodeficiency PMID:32921793 [Fam.A:II.1(P1-A)]
106761 F 216124tree icon 1 Caucasian Increased T cell count T-negative/B-positive SCID type 1 PMID:28916186 [P5]; PMID:31440277 [pt(II.1)]
106847 M 216169tree icon 40 Caucasian Reduced T cell count Adenosine deaminase 2 deficiency PMID:29963054 [P1(II.1)]
107043 M 216282 - Reduced T cell count Activated p110-delta syndrome 1 PMID:27444043 [P1]
107151 M 216364tree icon 6 Turkish Reduced T cell count Hyper-IgE recurrent infection syndrome 2 PMID:39437980 [Fam.A:II.1(Patient 1)]

*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).