Recurrent infections
Basic details
Preferred term: Recurrent infections
Alt. terms: Frequent infections | Frequent, severe infections | Increased frequency of infection | infections, recurrent | Predisposition to infections | Recurrent infections | Susceptibility to infection
HPO term: Recurrent infections
HPO code: HP:0002719
GenIA ID: 2653
Last updated on: 2021-08-02 21:50:33
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
Increased susceptibility to infections.
Hierarchical classification
PARENT terms
TERM
Recurrent infections
CHILD terms
- Recurrent gastrointestinal tract infections
- Recurrent urinary tract infections
- Recurrent otitis media
- Recurrent respiratory infections
- repeated bacterial infections
- Recurrent abscess formation
- Recurrent fungal infections
- Recurrent viral infections
- Recurrent protozoan infections
- Recurrent opportunistic infections
- Recurrent infections in infancy and early childhood
- Failure to thrive secondary to recurrent infections
- Recurrent parasitic infections
- Recurrent infections of the middle ear
- Recurrent ear infections
- Recurrent gingivitis
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101020 | F | 210008![]() |
27 | German | Recurrent gastrointestinal tract infections | NFKB1 insufficiency | PMID:34975878 [Fam.F005:P005]; PMID:32278790 [Fam.AU:II.3(II.3)]; PMID:29403474 [Patient 28 (11)]; PMID:150198 [Fam.AM:II.4(157)]; PMID:27461466 [Fam.199_01:28] |
101038 | F | 210182![]() |
- | Caucasian | Recurrent respiratory infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.6(B.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)] |
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)] |
101067 | M | 211264 | 7 | Unusual infection | PMID:34975878 [Fam.F036:P036] | ||
101136 | M | 210356 | - | Unusual infection | PMID:34975878 [Fam.F085:P085] | ||
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)] |
101260 | M | 212144 | - | Iranian | Recurrent gastrointestinal tract infections | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.C:II.1(P4)]; PMID:29528757 [Case 7]; PMID:26707784 [P4]; PMID:26993986 [F6]; PMID:28512785 [P14] |
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] |
101336 | M | 212152 | - | Omani | Unusual infection | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.3 :II.1] |
101399 | F | 210189![]() |
- | German | Recurrent urinary tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [P6]; PMID:26922074 [Fam.Index:II.1(sister1)] |
101401 | F | 210205![]() |
-,- | Caucasian | Recurrent respiratory infections,Unusual 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)] |
101410 | F | 210902 | - | German | Recurrent urinary tract infections | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F141:P141]; PMID:28493328 [P4] |
101425 | M | 210205![]() |
- | Caucasian | Recurrent respiratory infections | 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)] |
101458 | F | 210656![]() |
- | Georgian | Recurrent respiratory infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.E:II.3(E.II.3)]; PMID:29729943 [Fam.E:II.3(E.II.3 (23))]; PMID:27418640 [P19(5)] |
101565 | M | 211008![]() |
- | Caucasian | Unusual infection | NFKB1 insufficiency | PMID:34975878 [Fam.F188:P188]; PMID:32278790 [Fam.BS:II.1(II.1)]; PMID:150198 [Fam.DD:II.1(457)]; PMID:36105815 [Fam.M216V:II.1(M216V/1)] |
101578 | M | 210205![]() |
30 | German | Recurrent respiratory infections | 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)] |
101710 | F | 210771 | - | Unusual infection | PMID:34975878 [Fam.F247:P247] | ||
101711 | M | 210925![]() |
- | Turkish | Unusual infection | NFKB1 insufficiency | PMID:34975878 [Fam.F412:P412]; PMID:32278790 [Fam.BT:II.1(II.1)]; PMID:150198 [Fam.DE:II.1(460)]; PMID:36105815 [Fam.R230K:II.1(R230K/2)] |
101717 | F | 210260![]() |
- | Caucasian | Recurrent respiratory infections | 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)] |
101744 | F | 210182![]() |
- | Caucasian | Recurrent respiratory infections | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:III.2(B.III.2)]; PMID:29729943 [Fam.B:III.3(B.III.2 (17))]; PMID:27418640 [P15(5)] |
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] |
101774 | M | 210908![]() |
- | Argentinian | Recurrent gastrointestinal tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [P9(II.1)] |
101775 | M | 210908![]() |
- | Argentinian | Recurrent gastrointestinal tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P9:II.2(P10)] |
101789 | M | 210950![]() |
- | Swiss | Recurrent gastrointestinal tract infections | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P7:II.2(P8)] |
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)] |
101804 | M | 211221![]() |
2 | German | Recurrent viral infections | NFKB1 insufficiency | PMID:33995346 [Fam.A:IV.1(Pat3)]; PMID:150198 [Fam.DV:IV.1(533)]; PMID:36105815 [Fam.Y350C:IV.1(Y350C/3)] |
102143 | M | 214416 | - | Slovenian | Unusual infection | Immunodeficiency, common variable, 8 | PMID:28720148 [Patient] |
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] |
102626 | M | 214969![]() |
15 | Filipino | Unusual infection | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.1:II.1(P1)] |
102630 | M | 214970![]() |
- | European | Unusual infection | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.2:II.1(P2)] |
102633 | M | 214971![]() |
7 | European | Unusual infection | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.3:II.1(P3)] |
102637 | M | 214972![]() |
16 | Unusual infection | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.4:II.2(P4)] | |
102641 | M | 214973![]() |
16 | European | Unusual infection | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.5:II.2(P5)] |
102645 | M | 214974![]() |
1 | Caucasian | Unusual infection | Immunodeficiency 98 with autoinflammation | PMID:33512449 [Fam.6:II.1(P6)] |
102677 | M | 214980![]() |
1 | Pakistani | Recurrent ear infections | JAK1 deficiency | PMID:28008925 [Patient(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] |
102881 | F | 215003![]() |
- | Portuguese | Unusual infection | 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 | 215004![]() |
- | Admixed | Unusual infection | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:20978268 [Fam.2:II.1(P2)]; PMID:33464451 [P4]; PMID:22721479 [Patient]; PMID:28077132 [P8] |
102913 | M | 215014 | - | Recurrent urinary tract infections | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P3] | |
103008 | M | 215081![]() |
0 | North American | Recurrent ear infections | PMID:23861857 [Fam.Patient:II.2] | |
103027 | F | 215087![]() |
- | Hungarian | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN133]; PMID:18706697 [Fam.2:I.2(N1)] |
103113 | M | 215100![]() |
- | Iranian | Unusual infection | Seizures, cortical blindness, microcephaly syndrome | PMID:36212620 [Patient(II.1)] |
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 | Recurrent gastrointestinal tract infections | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.1(P1)]; PMID:14702466 [Fam.1:II.1(P1)] |
103477 | F | 215134![]() |
- | French | Recurrent gastrointestinal tract infections | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.3(P2)]; PMID:14702466 [Fam.1:II.3(P2)] |
103478 | M | 215135![]() |
- | French | Recurrent gastrointestinal tract infections | Immunodeficiency 55 | PMID:28414293 [Fam.B:II.1(P3)] |
103482 | F | 215136![]() |
- | British | Recurrent gastrointestinal tract infections | Immunodeficiency 55 | PMID:28414293 [Fam.C:II.1(P4)] |
103485 | F | 215137![]() |
- | French | Recurrent gastrointestinal tract infections | Immunodeficiency 55 | PMID:28414293 [Fam.D:II.1(P5)] |
103788 | M | 215242![]() |
- | South Korean | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:19348930 [Patient(II.1)] |
103880 | F | 215269![]() |
- | Finnish | Recurrent infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
104052 | F | 215328![]() |
- | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN110]; GRID:000796 [UPN110(II.1)] |
104056 | M | 215332 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN114]; GRID:000796 [UPN114] |
104057 | M | 215333 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN86]; GRID:000796 [UPN86] |
104058 | F | 215334 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN17]; PMID:18835223 [UPN17]; GRID:000796 [UPN17] |
104059 | M | 215335 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN108]; GRID:000796 [UPN108] |
104060 | M | 215336 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN15]; PMID:18835223 [UPN15]; GRID:000796 [UPN15] |
104061 | M | 215337![]() |
- | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN19]; PMID:18835223 [UPN19]; GRID:000796 [UPN19(II.1)] |
104062 | F | 215338 | - | Colombian | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN29]; PMID:18835223 [UPN29]; GRID:000796 [UPN29] |
104063 | M | 215339 | - | Colombian | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN31]; PMID:18835223 [UPN31]; GRID:000796 [UPN31] |
104067 | M | 215343 | - | Middle Eastern | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN73]; GRID:000796 [UPN73] |
104068 | F | 215344 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN126]; GRID:000796 [UPN126] |
104070 | M | 215346 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN129]; GRID:000796 [UPN129] |
104073 | M | 215349 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN135]; GRID:000796 [UPN135] |
104075 | M | 215351 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN98]; GRID:000796 [UPN98] |
104076 | F | 215352 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN25]; GRID:000796 [UPN25] |
104079 | F | 215355 | - | Middle Eastern | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN47]; GRID:000796 [UPN47] |
104082 | M | 215358 | - | Middle Eastern | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN77]; GRID:000796 [UPN77] |
104084 | F | 215360 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN95]; GRID:000796 [UPN95] |
104086 | M | 215362![]() |
- | Middle Eastern | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN60]; GRID:000796 [UPN60(I.1)] |
104089 | F | 215365 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN130]; GRID:000796 [UPN130] |
104090 | F | 215366 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN26]; GRID:000796 [UPN26] |
104094 | M | 215370 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN36]; GRID:000796 [UPN36] |
104095 | F | 215371 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN57]; GRID:000796 [UPN57] |
104097 | M | 215373 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN71]; PMID:18835223 [UPN71]; GRID:000796 [UPN71] |
104099 | M | 215375 | - | Colombian | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN32]; PMID:18835223 [UPN32]; GRID:000796 [UPN32] |
104101 | F | 215377 | - | Middle Eastern | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN42]; GRID:000796 [UPN42] |
104103 | F | 215379 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN66]; GRID:000796 [UPN66] |
104104 | M | 215380 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN67]; GRID:000796 [UPN67] |
104105 | M | 215381![]() |
- | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN106]; GRID:000796 [Fam.UPN106:II.1] |
104107 | M | 215383 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN125]; GRID:000796 [UPN125] |
104110 | F | 215386 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN109]; GRID:000796 [UPN109] |
104111 | M | 215387 | - | Latino | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN27]; GRID:000796 [UPN27] |
104114 | M | 215390 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN116]; GRID:000796 [UPN116] |
104158 | M | 215393![]() |
- | Australian | Recurrent fungal infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.B:II.2(P2)] |
104190 | F | 215399 | - | Latino | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN30] |
104192 | F | 215401 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN143] |
104193 | M | 215402 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN147] |
104195 | M | 215404 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN152] |
104196 | M | 215405![]() |
- | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN153(I.1)] |
104203 | F | 215410![]() |
- | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN160(II.2)] |
104300 | F | 215450![]() |
- | Greek | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20149460 [Patient] |
104444 | F | 215528![]() |
3 | Spanish | Recurrent infections | Early-onset atopic inflammation | PMID:36884218 [Fam.B:II.2(P2)] |
104653 | M | 215564![]() |
4 | Mexican | Recurrent abscess formation | Immunodeficiency 107 | PMID:35587511 [Fam.C:III.1(5)]; PMID:38914362 [Fam.I:III.1(089)] |
104685 | F | 215571![]() |
- | Iranian | Unusual infection | Severe early onset systemic inflammation and autoimmunity | PMID:37382373 [Fam.1:VI.6(VI.5)] |
104713 | M | 215571![]() |
- | Iranian | Unusual infection | Severe early onset systemic inflammation and autoimmunity | PMID:37382373 [Fam.1:VI.5(VI.4)] |
104838 | M | 215578![]() |
- | Caucasian | Recurrent respiratory infections | CTLA4 haploinsufficiency with autoimmune infiltration | 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] |
104845 | F | 215579![]() |
- | European | Unusual infection | 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)] |
104864 | F | 215598![]() |
- | Recurrent infections | Immunodeficiency, common variable, 14 | PMID:33864888 [S125]; PMID:37876937 [Fam.B:II.1(B.1)] | |
104923 | M | 215620![]() |
- | Recurrent infections of the middle ear | Immunodeficiency, common variable, 14 | PMID:36193988 [Patient(II.1)]; PMID:37876937 [Fam.D:II.1(D.1)] | |
105019 | M | 215624![]() |
- | French | Recurrent fungal infections | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [P1(III.4)] |
105023 | M | 215624![]() |
- | French | Recurrent fungal infections | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:II.2(P2)] |
105058 | F | 215624![]() |
- | French | Recurrent fungal infections | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:II.3(P4)] |
105063 | F | 215624![]() |
- | French | Recurrent fungal infections | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:III.2(P6)] |
105065 | M | 215624![]() |
- | French | Recurrent fungal infections | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:III.5(P7)] |
105066 | F | 215624![]() |
- | French | Recurrent fungal infections | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:III.6(P3)] |
105069 | M | 215624![]() |
- | French | Recurrent fungal infections | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:IV.1(P5)] |
105149 | M | 215654![]() |
- | Chinese (China) | Recurrent infections | Immunodeficiency, common variable, 14 | PMID:37350971 [Patient(II.1)]; PMID:37876937 [Fam.E:II.1(E.1)] |
105194 | M | 215665![]() |
- | Iranian | Recurrent infections | Immunodeficiency, common variable, 8 | PMID:27888588 [Case(II.1)] |
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] |
105361 | F | 215701![]() |
- | Pakistani | Recurrent infections | Immunodeficiency 87 | PMID:31308374 [Fam.A:III.3(P2)] |
105428 | M | 215766![]() |
-,- | Admixed | Recurrent infections,Recurrent viral 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)] |
105533 | M | 215791 | - | Portuguese | Unusual infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient(I.1)] |
105616 | F | 215822 | - | Caucasian | Recurrent infections | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:II.4(P1)] |
105630 | M | 215824 | - | Unusual infection | Immunodeficiency 84 | PMID:34694366 [Fam.1:II.2(p2)] | |
105690 | F | 215840![]() |
- | Caucasian | Recurrent ear infections | NFKB1 insufficiency | PMID:32278790 [Fam.BL:II.1(II.1)]; PMID:150198 [Fam.CE:II.1(417)]; PMID:36105815 [Fam.H67Y:II.1(H67Y/2)] |
105791 | F | 215877![]() |
- | Spanish | Recurrent gastrointestinal tract infections | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.1:II.1(1.1)] |
105799 | M | 215881![]() |
- | Pakistani | Unusual infection | Combined immunodeficiency 41 | PMID:32980423 [Fam.1:V.2(1.V.2)]; PMID:150198 [Fam.DS:V.2(506)] |
105800 | M | 215882 | - | Recurrent infections | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33864888 [S112] | |
105977 | F | 215918 | - | Japanese | Unusual infection | CTLA4 haploinsufficiency with autoimmune infiltration | 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)] |
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] | ||
106279 | M | 215977 | -,1 | Caucasian | Recurrent gastrointestinal tract infections,Unusual 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)] |
106304 | M | 215981![]() |
- | Chinese (China) | Recurrent opportunistic infections | NFKB1 insufficiency | PMID:150198 [Fam.FO:II.5(717)]; PMID:36571238 [Fam.1:II.5(II:5[P1])] |
106349 | F | 215996 | 1 | Unusual infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.CM:II.2(CM.II.2)]; PMID:34111452 [CM.II.2 (171)] | |
106459 | M | 216021![]() |
- | Recurrent infections | NFKB1 insufficiency | PMID:150198 [Fam.FV:II.1(769)]; GRID:001217 [1(II.1)]; PMID:37895204 [proband] | |
106463 | F | 216023![]() |
- | Japanese | Unusual infection | NFKB1 insufficiency | PMID:150198 [Fam.FX:II.3(779)]; PMID:38514645 [Fam.1:II.3(proband)] |
106495 | F | 216045 | 1 | Unusual infection | Immunodeficiency, common variable, 8 | PMID:33178652 [Patient] | |
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)] |
106610 | F | 216089![]() |
- | Australian | Recurrent gastrointestinal tract infections | Agammaglobulinemia 8A | Immunodeficiency, common variable, 2 | PMID:30323807 [Fam.1:II.2(II.2)]; PMID:30323807 [Fam.1:II.2(II.2)]; PMID:29114388 [Fam.A:II.2(II.2)]; PMID:29114388 [Fam.A:II.2(II.2)] |
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)] |
106646 | M | 216099 | - | Unusual infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34628649 [Patient(III.1)] | |
106669 | M | 216103 | - | Unusual infection | NFKB1 insufficiency | PMID:150198 [Fam.EE:565]; PMID:35281075 [5] | |
106816 | F | 216162 | - | Recurrent gastrointestinal tract infections | Immunodeficiency, common variable, 8 | PMID:39184709 [Fam.1:II.1(Patient)] | |
106912 | F | 216186 | 44 | Recurrent infections | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
106939 | M | 216189![]() |
- | Caucasian | Recurrent ear infections | NFKB1 insufficiency | PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)] |
106942 | M | 216189![]() |
- | Caucasian | Recurrent ear infections | NFKB1 insufficiency | PMID:150198 [Fam.FW:II.2(773)]; PMID:38423196 [Fam.1:II.2(P2)] |
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).