repeated bacterial infections
Basic details
Preferred term: repeated bacterial infections
Alt. terms: Frequent bacterial infections | Frequent pyogenic infections | Increased susceptibility to bacterial infections | Prone to bacterial infection | Recurrent major bacterial infections |
HPO term: Recurrent bacterial infections
HPO code: HP:0002718
GenIA ID: 17383
Last updated on: 2023-11-09 16:51:03
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Hierarchical classification
PARENT terms
TERM
repeated bacterial infections
CHILD terms
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101036 | F | 210182![]() |
- | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.2(B.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] |
101062 | M | 212603![]() |
- | South Asian | Recurrent infections | ARPC1B deficiency | PMID:28368018 [Fam.1:II.1(P1)]; PMID:30771411 [P9]; PMID:34673575 [Fam.1:II.1(P1)] |
101082 | F | 211226 | - | (unusual) Bacterial infection | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F048:P048] | |
101087 | M | 211335 | - | German | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F053:P053] |
101090 | M | 211257 | - | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F056:P056]; PMID:37740092 [P13] | |
101093 | M | 211289 | - | German | (unusual) Bacterial infection | Immunodeficiency, common variable, 8 | PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4] |
101115 | F | 210778 | - | Caucasian | (unusual) Bacterial infection | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
101128 | M | 210897 | - | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.OO:II.1(95)]; PMID:37740092 [P07] |
101145 | M | 211221![]() |
- | German | repeated bacterial infections | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.5(Pat4)]; PMID:150198 [Fam.DV:III.5(531)]; PMID:36105815 [Fam.Y350C:III.5(Y350C/4)] |
101155 | M | 210235 | - | German | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [JJ.II.I]; PMID:29729943 [Fam.JJ:II.1(83)]; PMID:34975878 [Fam.F098:P098] |
101160 | F | 211433 | - | (unusual) Bacterial infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F101:P101] | |
101199 | F | 211483 | - | German | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122] |
101268 | F | 212145 | - | Iranian | Recurrent infections | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.D:II.2(P5)]; PMID:29528757 [Case 8]; PMID:26707784 [P5]; PMID:28512785 [P16] |
101401 | F | 210205![]() |
- | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.17(A.II.9)]; PMID:29729943 [Fam.A:II.17(A.II.9 (6))]; PMID:27418640 [P9(5)] |
101425 | M | 210205![]() |
- | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.8(A.II.5)]; PMID:29729943 [Fam.A:II.8(A.II.5 (4))]; PMID:27418640 [P7(5)] |
101462 | M | 210006 | - | (unusual) Bacterial infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F154:P154] | |
101578 | M | 210205![]() |
- | German | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.14(A.II.8)]; PMID:29729943 [Fam.A:II.14(A.II.8 (5))]; PMID:27418640 [P8(5)] |
101592 | M | 212605![]() |
- | Moroccan | Recurrent infections | ARPC1B deficiency | PMID:27965109 [P1(II.1)]; PMID:30771411 [P1]; PMID:31710310 [Patient]; PMID:32499645 [Case 1]; PMID:34135903 [Patient] |
101597 | M | 212618![]() |
0 | Jewish | Recurrent infections | ARPC1B deficiency | PMID:29127144 [Fam.P1:II.10(P2)]; PMID:30254128 [P7]; PMID:35767111 [P6] |
101601 | M | 212619![]() |
- | Italian | Recurrent infections | ARPC1B deficiency | PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2] |
101604 | M | 212620![]() |
- | Italian | Recurrent infections | ARPC1B deficiency | PMID:30254128 [Fam.B:II.1(P2)]; PMID:30771411 [P3]; PMID:35967303 [Pt1]; PMID:35767111 [P1] |
101608 | M | 212621![]() |
- | Canadian | Recurrent infections | ARPC1B deficiency | PMID:30254128 [Fam.C:II.1(P3)]; PMID:16019263 [case]; PMID:35967303 [Pt3] |
101611 | M | 212622![]() |
- | Colombian | Recurrent infections | ARPC1B deficiency | PMID:30254128 [Fam.D:II.4(P4)] |
101622 | F | 212623![]() |
- | Moroccan | Recurrent infections | ARPC1B deficiency | PMID:30254128 [Fam.E:II.1(P5)] |
101631 | F | 212624![]() |
- | Turkish | Recurrent infections | ARPC1B deficiency | PMID:30254128 [Fam.F:II.1(P6)] |
101673 | M | 211156 | 44 | (unusual) Bacterial infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F236:P236] | |
101717 | F | 210260![]() |
- | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.C:II.3(C.II.3)]; PMID:29729943 [Fam.C:II.3(C.II.3 (19))]; PMID:27418640 [P16(5)] |
101722 | F | 210261![]() |
- | Asian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.D:II.1(D.II.1)]; PMID:29729943 [Fam.D:II.1(D.II.1 (22))]; PMID:27418640 [P18(5)] |
101723 | F | 210261![]() |
- | Asian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.D:I.2(D.I.2)]; PMID:29729943 [Fam.D:I.2(D.I.2 (21))] |
101753 | M | 210024 | - | Japanese | Recurrent infections | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.1(P10)] |
101754 | M | 210024 | - | Japanese | Recurrent infections | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.2(P11)] |
101764 | F | 210031 | - | Dutch | Recurrent infections | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.656:P19] |
101802 | F | 211221![]() |
- | German | repeated bacterial infections | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.2(Pat2)]; PMID:150198 [Fam.DV:III.2(528)]; PMID:36105815 [Fam.Y350C:III.2(Y350C/2)] |
101833 | M | 210887 | - | (unusual) Bacterial infection | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F295:P295] | |
101915 | F | 211935 | - | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F341:P341] | |
102157 | F | 214681 | - | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:II.5(45)] |
102216 | F | 214916![]() |
1 | Belgian | (unusual) Bacterial infection | Severe congenital neutropenia 11 | PMID:32325141 [Patient(II.1)] |
102245 | M | 214924![]() |
- | Afghanistani | Recurrent infections | ARPC1B deficiency | PMID:33679784 [Fam.II-6:II.1(II-1)] |
102270 | F | 214928![]() |
1 | Japanese | Recurrent infections | OAS1 immunodeficiency | PMID:29455859 [Fam.A:II.4] |
102865 | F | 214996![]() |
- | Italian | Recurrent infections | ARPC1B deficiency | Hartnup disease | PMID:35967303 [PtII-1(II.1)]; PMID:35967303 [PtII-1(II.1)] |
102875 | F | 215001![]() |
- | Italian | repeated bacterial infections | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:8911612 [G.D.]; PMID:10206641 [Fam.Patient:II.3]; PMID:33464451 [Fam.P1:II.3(P2)]; PMID:28077132 [Fam.1:II.3(P2)]; PMID:11159512 [Patient] |
103281 | F | 215111![]() |
- | Chinese (China) | Recurrent infections | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.1:II.2(P1)] |
103292 | F | 215114 | - | German | Recurrent infections | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P5] |
103473 | F | 215134![]() |
- | French | (unusual) Bacterial infection | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.1(P1)]; PMID:14702466 [Fam.1:II.1(P1)] |
103477 | F | 215134![]() |
- | French | (unusual) Bacterial infection | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.3(P2)]; PMID:14702466 [Fam.1:II.3(P2)] |
103482 | F | 215136![]() |
- | British | (unusual) Bacterial infection | Immunodeficiency 55 | PMID:28414293 [Fam.C:II.1(P4)] |
103485 | F | 215137![]() |
- | French | (unusual) Bacterial infection | Immunodeficiency 55 | PMID:28414293 [Fam.D:II.1(P5)] |
103880 | F | 215269![]() |
- | Finnish | Recurrent infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
103922 | F | 215274 | - | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K5:P6] |
103923 | M | 215275![]() |
- | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:II.1(P8)] |
103925 | F | 215275![]() |
29 | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:I.2(P7)] |
103928 | M | 215278 | - | Algerian | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K9:P11] |
103929 | M | 215279 | - | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K10:P12] |
103930 | F | 215280 | - | Moroccan | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K11:P13] |
103937 | F | 215284 | - | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K15:P19] |
103938 | M | 215285 | - | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K16:P20] |
103939 | F | 215286 | - | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K17:P21] |
103945 | M | 215289 | - | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K19:P24] |
103946 | F | 215290 | - | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K20:P25] |
103948 | F | 215292 | - | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K22:P27] |
103953 | F | 215294 | - | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K24:P31] |
103958 | M | 215298![]() |
- | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K28:I.1(P35)] |
103967 | M | 215303 | - | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K33:P41] |
103969 | F | 215305![]() |
- | Pakistani | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.2(P45)] |
103971 | F | 215305![]() |
- | Pakistani | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:I.2(P43)] |
103972 | M | 215305![]() |
- | Pakistani | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.1(P44)] |
103973 | M | 215306 | - | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K36:P46] |
103974 | M | 215307 | - | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K37:P47] |
103977 | F | 215308![]() |
- | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K38:I.2(P48)] |
103978 | M | 215309 | - | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K39:P50] |
103981 | M | 215312 | - | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K42:P53] |
103985 | M | 215316 | - | Portuguese | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K46:P57] |
104148 | M | 215392![]() |
- | Syrian | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.A:III.5(P1)] |
104158 | M | 215393![]() |
- | Australian | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.B:II.2(P2)] |
104165 | M | 215394![]() |
- | Indian | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.C:II.4(P3)] |
104171 | M | 215395![]() |
- | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.D:III.1(P5)] | |
104174 | M | 215395![]() |
- | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.D:II.1(P4)] | |
104177 | M | 215396![]() |
- | Maori | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.E:I.1(P6)] |
104444 | F | 215528![]() |
3 | Spanish | Recurrent infections | Early-onset atopic inflammation | PMID:36884218 [Fam.B:II.2(P2)] |
104523 | F | 215540 | - | Turkish | (unusual) Bacterial infection | Immunodeficiency 91 and hyperinflammation | PMID:34708404 [Fam.1:II.1(P1)] |
104681 | F | 215569![]() |
0 | Iranian | (unusual) Bacterial infection | PMID:37349293 [Fam.2:II.1(sister)] | |
104864 | F | 215598![]() |
- | Recurrent infections | Immunodeficiency, common variable, 14 | PMID:33864888 [S125]; PMID:37876937 [Fam.B:II.1(B.1)] | |
104886 | F | 215613![]() |
- | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)] |
104916 | M | 215613![]() |
- | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [G.III.2]; PMID:29729943 [Fam.G:III.2(G.III.2 (27))]; PMID:25367873 [Fam.1:III.5(III.5)] |
105019 | M | 215624![]() |
- | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [P1(III.4)] |
105023 | M | 215624![]() |
- | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:II.2(P2)] |
105043 | F | 215630![]() |
- | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))] |
105058 | F | 215624![]() |
- | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:II.3(P4)] |
105063 | F | 215624![]() |
- | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:III.2(P6)] |
105065 | M | 215624![]() |
- | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:III.5(P7)] |
105066 | F | 215624![]() |
- | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:III.6(P3)] |
105069 | M | 215624![]() |
- | French | (unusual) Bacterial infection | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:IV.1(P5)] |
105088 | M | 215638 | - | Japanese | (unusual) Bacterial infection | 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] |
105149 | M | 215654![]() |
- | Chinese (China) | Recurrent infections | Immunodeficiency, common variable, 14 | PMID:37350971 [Patient(II.1)]; PMID:37876937 [Fam.E:II.1(E.1)] |
105162 | M | 215658![]() |
- | Australian | (unusual) Bacterial infection | Autoinflammation, panniculitis, and dermatosis syndrome 2 | PMID:38914362 [Fam.N:II.1(110)]; PMID:38630025 [Fam.1:II.1(Patient 1)] |
105180 | M | 215662 | - | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)] |
105194 | M | 215665![]() |
- | Iranian | Recurrent infections | Immunodeficiency, common variable, 8 | PMID:27888588 [Case(II.1)] |
105317 | M | 215692![]() |
- | European | (unusual) Bacterial infection | NFKB1 insufficiency | PMID:32278790 [Fam.J:III.2(III.2)]; PMID:29477724 [Fam.J:III.2(III:2)]; PMID:150198 [Fam.BD:III.2(277)] |
105332 | U | 215694 | - | European | (unusual) Bacterial infection | NFKB1 insufficiency | PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285] |
105334 | F | 215696 | - | Indian | repeated bacterial infections | NFKB1 insufficiency | PMID:32278790 [O.II.1]; PMID:29477724 [Fam.O:II.1(II:1)]; PMID:150198 [Fam.BI:287] |
105338 | U | 215700 | - | European | (unusual) Bacterial infection | NFKB1 insufficiency | PMID:32278790 [K.II.1]; PMID:29477724 [Fam.K:II.1(II:1)]; PMID:150198 [Fam.BE:280] |
105350 | M | 215712 | 4 | Omani | (unusual) Bacterial infection | Immunodeficiency, common variable, 8 | PMID:28690850 [P1] |
105361 | F | 215701![]() |
- | Pakistani | Recurrent infections | Immunodeficiency 87 | PMID:31308374 [Fam.A:III.3(P2)] |
105370 | F | 215725 | - | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Z:III.1(Z.III.1 (67))]; PMID:27577878 [Fam.B:II.1(15.1)] |
105428 | M | 215766![]() |
- | Admixed | Recurrent infections | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.F:II.2(P9)]; PMID:25457153 [Fam.1:II.3(P2)]; PMID:25075846 [Fam.1:II.3(younger-sib)] |
105616 | F | 215822 | - | Caucasian | Recurrent infections | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:II.4(P1)] |
105800 | M | 215882 | - | Recurrent infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33864888 [S112] | |
105999 | F | 215922![]() |
- | Recurrent infections | NFKB1 insufficiency | PMID:150198 [Fam.FH:III.1(640)]; PMID:36203612 [Fam.2:III.1(2.III.1)] | |
106006 | M | 215922![]() |
- | Recurrent infections | PMID:150198 [Fam.FH:IV.1(652)]; PMID:36203612 [Fam.2:IV.1] | ||
106041 | M | 215926 | - | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.EE:II.1(EE.II.1 (76))] |
106044 | F | 215929 | - | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.KK:II.1(KK.II.1 (85))] |
106047 | F | 215930 | - | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
106057 | F | 210991 | - | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))] |
106068 | M | 215931 | - | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.PP:II.1(PP.II.1 (96))] |
106077 | M | 215934 | - | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.TT:II.4(TT.II.4 (103))] |
106100 | F | 215949 | - | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.DDD:II.1(DDD.II.1 (133))]; PMID:30048690 [Fam.3:II.1(P3.2)] |
106105 | M | 215950 | - | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.CCC:II.1(CCC.II.1 (132))] |
106240 | F | 215977 | - | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.14(UU.IV.12 (120))]; PMID:29305966 [IV.2(IV.2)] |
106250 | M | 215977 | - | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.5(UU.III.4 (109))]; PMID:29305966 [Fam.IV.2:III.6(III.8)] |
106279 | M | 215977 | - | Caucasian | (unusual) Bacterial infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:V.2(UU.V.2 (122))]; PMID:29305966 [Fam.IV.2:V.1(V.1)] |
106459 | M | 216021![]() |
- | Recurrent infections | NFKB1 insufficiency | PMID:150198 [Fam.FV:II.1(769)]; GRID:001217 [1(II.1)]; PMID:37895204 [proband] | |
106547 | M | 216075![]() |
- | Dutch | Recurrent infections | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.C:II.1(P4)]; PMID:25888558 [Fam.1:III.1(P1)] |
106581 | F | 216082![]() |
- | Caucasian | Recurrent infections | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.E:II.1(P7)] |
106600 | M | 216087![]() |
- | French | Recurrent infections | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.1:II.2(P3)] |
106622 | M | 216091![]() |
- | Ashkenazi Jewish | Recurrent infections | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.4:II.1(P11)] |
106625 | F | 216092![]() |
- | Admixed | Recurrent infections | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.5:II.2(P13)] |
106630 | M | 216093![]() |
- | Ashkenazi Jewish | Recurrent infections | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.6:II.1(P16)] |
106912 | F | 216186 | 44 | Recurrent infections | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
107096 | F | 216332 | - | Japanese | (unusual) Bacterial infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [P3] |
107103 | M | 216335![]() |
- | Chinese (China) | (unusual) Bacterial infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt1(II.2)] |
107145 | F | 216362![]() |
- | Caucasian | Recurrent infections | Adenosine deaminase 2 deficiency | PMID:26131734 [P1(II.1)] |
107146 | M | 216362![]() |
5 | Caucasian | Recurrent infections | Adenosine deaminase 2 deficiency | PMID:26131734 [Fam.P1:II.2(P2)] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).