(unusual) Viral infection
Basic details
Preferred term: (unusual) Viral infection
Alt. terms: Viral infection, unspecified
HPO term: Unusual viral infection
HPO code: HP:0034317
GenIA ID: 603
Last updated on: 2025-01-30 17:45:22
Cross ref. with other ontologies
NCIT: C3439
MESH: -
EFO: -
OAE:0000466
SNOMEDCT: -
ICD10: B34.9
Description
Any type of infection caused by any type of virus.
Hierarchical classification
PARENT terms
TERM
(unusual) Viral infection
CHILD terms
- Viral intestinal infection
- Cytomegalovirus Infection Reactivation
- Severe Norovirus infection
- Human papilloma virus infection
- Herpes Simplex Virus Infection
- (unusual) Epstein-Barr virus infection
- Rotavirus infection
- Cytomegalovirus infection
- Mumps
- Measles
- Rubella
- Molluscum contagiosum
- HIV Infection
- Severe Adenovirus infection
- Varicella zoster virus infection
- Severe parainfluenza infection
- Severe SARS-CoV-2 infection
- Parvovirus infection
- Severe influenza infection
- Viremia
- Unusual virus reactivation
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101015 | M | 210203 | - | German | Herpes Simplex Virus Infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.MM:II.1]; PMID:29729943 [Fam.MM:II.1(87)]; PMID:34975878 [Fam.F002:P002]; PMID:31857261 [Patient 3] |
101020 | F | 210008![]() |
- | German | Severe Norovirus infection | 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] |
101021 | M | 210359 | - | German | Mumps | PMID:34975878 [Fam.F006:P006] | |
101022 | M | 210482 | - | German | Measles | PMID:34975878 [Fam.F007:P007] | |
101024 | F | 210927 | 41 | Severe Norovirus infection | PMID:34975878 [Fam.F009:P009] | ||
101026 | M | 210215 | 16 | Varicella zoster virus infection | PMID:34975878 [Fam.F011:P011] | ||
101028 | F | 210750 | - | German | Measles | PMID:34975878 [Fam.F013:P013] | |
101037 | M | 210182![]() |
- | Caucasian | Herpes Simplex Virus Infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.4(B.II.3)]; PMID:30250467 [B.II.3]; PMID:29729943 [Fam.B:II.4(B.II.3 (15))]; PMID:27418640 [P13(5)] |
101038 | F | 210182![]() |
- | Caucasian | Herpes Simplex Virus Infection | 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)] |
101040 | F | 210724![]() |
20 | Caucasian | Cytomegalovirus Infection Reactivation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15] |
101043 | M | 210725![]() |
- | Caucasian | Herpes Simplex Virus Infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017] |
101067 | M | 211264 | 7 | Unusual infection | PMID:34975878 [Fam.F036:P036] | ||
101076 | F | 210226 | 11 | German | Varicella zoster virus infection | PMID:34975878 [Fam.F041:P041] | |
101078 | F | 211301 | 53 | Varicella zoster virus infection | PMID:34975878 [Fam.F044:P044] | ||
101081 | F | 211315 | 45 | Varicella zoster virus infection | PMID:34975878 [Fam.F047:P047] | ||
101082 | F | 211226 | - | (unusual) Viral infection | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F048:P048] | |
101086 | M | 210934 | - | German | Mumps | PMID:34975878 [Fam.F052:P052] | |
101088 | M | 211560 | 22 | German | Varicella zoster virus infection | PMID:34975878 [Fam.F054:P054] | |
101089 | M | 211033 | - | (unusual) Epstein-Barr virus infection | PMID:34975878 [Fam.F055:P055] | ||
101091 | M | 210911 | - | (unusual) Epstein-Barr virus infection | DiGeorge syndrome | PMID:34975878 [Fam.F057:P057]; PMID:35486341 [P180] | |
101093 | M | 211289 | -,- | German | (unusual) Viral infection,Mumps | Immunodeficiency, common variable, 8 | PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4] |
101115 | F | 210778 | 37,- | Caucasian | (unusual) Viral infection,Severe Norovirus infection | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
101120 | M | 210221 | 47 | German | Cytomegalovirus Infection Reactivation | PMID:34975878 [Fam.F071:P071] | |
101121 | M | 210784 | 47 | German | Severe Norovirus infection | PMID:34975878 [Fam.F072:P072] | |
101124 | F | 210216 | - | German | Mumps | PMID:34975878 [Fam.F075:P075] | |
101127 | F | 210318 | 32 | German | Severe Norovirus infection | PMID:34975878 [Fam.F077:P077] | |
101129 | F | 210906 | 32 | German | Herpes Simplex Virus Infection | PMID:34975878 [Fam.F078:P078] | |
101130 | F | 210465 | - | German | Mumps | PMID:34975878 [Fam.F079:P079] | |
101131 | F | 210337 | 6 | German | Mumps | PMID:34975878 [Fam.F080:P080] | |
101132 | M | 210304 | 5 | German | (unusual) Epstein-Barr virus infection | PMID:34975878 [Fam.F081:P081] | |
101133 | M | 210896 | 19 | (unusual) Epstein-Barr virus infection | Immunodeficiency, common variable, 13 | PMID:34975878 [Fam.F082:P082] | |
101135 | F | 210574 | 11 | Varicella zoster virus infection | PMID:34975878 [Fam.F084:P084] | ||
101136 | M | 210356 | - | Unusual infection | PMID:34975878 [Fam.F085:P085] | ||
101138 | F | 211092 | - | Human papilloma virus infection | PMID:34975878 [Fam.F086:P086] | ||
101143 | F | 211219 | 32 | Varicella zoster virus infection | PMID:34975878 [Fam.F088:P088] | ||
101146 | F | 211132 | - | German | Measles | PMID:34975878 [Fam.F089:P089] | |
101153 | M | 210757 | - | German | Herpes Simplex Virus Infection | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES55] |
101155 | M | 210235 | -,- | German | (unusual) Viral infection,Herpes Simplex Virus 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 | -,45 | (unusual) Viral infection,Varicella zoster virus infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F101:P101] | |
101162 | F | 211457 | 9 | Varicella zoster virus infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F103:P103] | |
101164 | F | 211460 | - | German | Measles | PMID:34975878 [Fam.F105:P105] | |
101167 | M | 211470![]() |
- | Herpes Simplex Virus Infection | NFKB1 insufficiency | PMID:34975878 [Fam.F108:P108]; PMID:33486103 [Fam.1:II.1(patient)]; PMID:150198 [Fam.DT:II.1(510)] | |
101178 | M | 210542 | 25 | Varicella zoster virus infection | PMID:34975878 [Fam.F114:P114] | ||
101189 | M | 211486 | 41 | Varicella zoster virus infection | PMID:34975878 [Fam.F120:P120] | ||
101197 | F | 214344 | - | Egyptian | Herpes Simplex Virus Infection | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES18] |
101199 | F | 211483 | 23 | German | Varicella zoster virus infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122] |
101201 | F | 211487 | - | Varicella zoster virus infection | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F123:II.3(P123)]; PMID:30941118 [Fam.1404:II.3(Pt#22)] | |
101204 | M | 211492 | - | German | (unusual) Epstein-Barr virus infection | PMID:34975878 [Fam.F126:P126] | |
101336 | M | 212152 | - | Omani | Unusual infection | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.3 :II.1] |
101343 | M | 210134 | 12 | Italian | Molluscum contagiosum | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.B:II.2(P3)]; PMID:26707784 [P3] |
101382 | M | 210641 | 20 | German | Herpes Simplex Virus Infection | Immunodeficiency, common variable, 1 | PMID:15507387 [Fam.C:II.3(II.3)]; PMID:16384931 [Fam.C:II.3(P5)]; PMID:19426217 [Fam.C:II.3(P5)]; PMID:28861081 [Fam.3:II.3(P5)] |
101384 | M | 210217 | - | German | Measles | NFKB1 insufficiency | PMID:34975878 [Fam.F134:P134]; PMID:32278790 [BN.I.1]; PMID:150198 [Fam.CZ:445]; PMID:36105815 [Y90S] |
101401 | F | 210205![]() |
- | Caucasian | 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)] |
101403 | M | 210189![]() |
- | German | Herpes Simplex Virus Infection | Adenosine deaminase 2 deficiency | PMID:28493328 [P3]; PMID:26922074 [Index(II.2)] |
101410 | F | 210902 | - | German | Herpes Simplex Virus Infection | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F141:P141]; PMID:28493328 [P4] |
101416 | M | 212169 | - | Turkish | Varicella zoster virus infection | Immunodeficiency, common variable, 8 | PMID:27146671 [Patient(II.1)] |
101425 | M | 210205![]() |
- | Caucasian | Varicella zoster virus 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)] |
101444 | F | 210640 | 18 | Varicella zoster virus infection | PMID:34975878 [Fam.F145:P145] | ||
101450 | F | 210409 | 4 | German | Mumps | PMID:34975878 [Fam.F149:P149] | |
101453 | F | 210192 | 5 | German | Measles | Immunodeficiency, common variable, 13 | PMID:34975878 [Fam.F150:P150]; PMID:31057532 [Fam.A:I.2] |
101457 | F | 211027 | - | Varicella zoster virus infection | PMID:34975878 [Fam.F152:P152] | ||
101461 | M | 210929 | - | German | Severe Norovirus infection | NFKB1 insufficiency | PMID:34975878 [Fam.F153:P153]; PMID:32278790 [Z.I.1]; PMID:29403474 [Patient 27 (11)]; PMID:27923702 [Patient 6]; PMID:150198 [Fam.AL:151]; PMID:27461466 [Fam.830_01:27] |
101469 | F | 210220![]() |
11 | German | Varicella zoster virus infection | NFKB1 insufficiency | PMID:34975878 [Fam.F156:P156]; PMID:32278790 [Fam.089:II.2(II.2)]; PMID:26279205 [Fam.089:II.2(II2)]; PMID:29403474 [Fam.089 (5):II.2(II2)]; PMID:27923702 [Patient 5]; PMID:150198 [Fam.AB:IV.5(099)]; PMID:27461466 [Fam.089:II.2(25)] |
101473 | F | 212398 | 1 | Spanish | (unusual) Epstein-Barr virus infection | Immunodeficiency, common variable, 8 | PMID:30386343 [Patient(II.1)] |
101479 | F | 210314![]() |
- | German | (unusual) Epstein-Barr virus infection | NFKB1 insufficiency | PMID:34975878 [Fam.F160:P160]; PMID:32278790 [Fam.BF:II.2(II.2)]; PMID:29403474 [Fam.(13):II.1(Patient 2)]; PMID:27923702 [Fam.191:II.1(Patient 2)]; PMID:150198 [Fam.AO:II.2(164)]; GRID:001142 [Fam.#:II.2(FR036)] |
101488 | M | 210401![]() |
- | German | Mumps | NFKB1 insufficiency | PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16] |
101491 | F | 212457 | - | Hungarian | Varicella zoster virus infection | Severe combined immunodeficiency 9A, T-B- | PMID:29410113 [Patient(II.1)] |
101495 | M | 212458 | 1 | Taiwanese | Varicella zoster virus infection | Activated p110-delta syndrome 1 | PMID:16984281 [P3(II.1)] |
101512 | M | 212459 | - | British | Herpes Simplex Virus Infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.4(P3)] |
101514 | M | 210220![]() |
- | German | Mumps | NFKB1 insufficiency | PMID:32278790 [Fam.089:I.1(I.1)]; PMID:26279205 [Fam.089:I.1(I1)]; PMID:29403474 [Fam.089 (5):I.1(I1)]; PMID:150198 [Fam.AB:III.3(093)]; PMID:27461466 [Fam.089:I.1(24)] |
101524 | F | 210020![]() |
- | German | Cytomegalovirus Infection Reactivation | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.105:II.1(P1)]; PMID:34975878 [Fam.F173:P173] |
101526 | F | 212460 | - | British | Herpes Simplex Virus Infection | PMID:24136356 [Fam.B:III.1] | |
101529 | M | 211278 | 20 | (unusual) Epstein-Barr virus infection | PMID:34975878 [Fam.F176:P176] | ||
101541 | M | 212461 | - | Slovenian | Herpes Simplex Virus Infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.C:II.1(P8)] |
101549 | F | 212463 | - | British | Herpes Simplex Virus Infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:I.1(P13)] |
101551 | M | 212463 | - | British | Herpes Simplex Virus Infection | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:II.1(P12)] |
101553 | M | 210256 | - | German | Cytomegalovirus infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F182:P182] |
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)] |
101575 | M | 210900 | - | German | Varicella zoster virus infection | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F198:P198]; PMID:28493328 [P2] |
101596 | M | 212618![]() |
5 | Jewish | Severe Adenovirus infection | ARPC1B deficiency | PMID:29127144 [P1(II.1)] |
101613 | F | 210737 | 14 | Varicella zoster virus infection | PMID:34975878 [Fam.F210:P210] | ||
101616 | F | 211098 | 11 | Varicella zoster virus infection | PMID:34975878 [Fam.F211:P211] | ||
101628 | F | 210955 | 18 | Caucasian | Cytomegalovirus Infection Reactivation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.ZZ:I.2(128)]; PMID:34975878 [Fam.F217:P217] |
101633 | M | 210945 | - | Cytomegalovirus Infection Reactivation | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F220:P220]; PMID:30941118 [Fam.846:II.1(Pt#49)] | |
101635 | F | 211154 | 51 | German | Varicella zoster virus infection | Severe combined immunodeficiency due to adenosine deaminase deficiency | PMID:34975878 [Fam.F221:P221] |
101639 | F | 210928 | - | Varicella zoster virus infection | PMID:34975878 [Fam.F222:P222] | ||
101651 | M | 210939 | - | (unusual) Epstein-Barr virus infection | PMID:34975878 [Fam.F226:P226] | ||
101665 | M | 211084 | - | Herpes Simplex Virus Infection | PMID:34975878 [Fam.F233:P233] | ||
101675 | M | 211167 | - | Molluscum contagiosum | PMID:34975878 [Fam.F237:P237] | ||
101693 | M | 212637![]() |
- | Nepalese | Molluscum contagiosum | ARPC1B deficiency | PMID:30771411 [P14(II.1)] |
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)] |
101719 | F | 210022 | - | Iranian | Severe Norovirus infection | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.134:II.1(P4)]; PMID:25539626 [Fam.P1:II.2(P2)]; PMID:26707784 [P13] |
101722 | F | 210261![]() |
- | Asian | Herpes Simplex Virus 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)] |
101732 | M | 210300![]() |
16 | North American | Varicella zoster virus infection | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.4(P3)] |
101755 | M | 210025 | - | North American | Severe Norovirus infection | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)] |
101757 | M | 210026 | - | North American | Severe Norovirus infection | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.605:P14]; PMID:26206937 [P3] |
101768 | M | 210789 | - | Varicella zoster virus infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F250:P250] | |
101774 | M | 210908![]() |
- | Argentinian | Herpes Simplex Virus Infection | Adenosine deaminase 2 deficiency | PMID:28493328 [P9(II.1)] |
101775 | M | 210908![]() |
- | Argentinian | Herpes Simplex Virus Infection | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P9:II.2(P10)] |
101789 | M | 210950![]() |
- | Swiss | Herpes Simplex Virus Infection | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P7:II.2(P8)] |
101792 | M | 210991 | - | Caucasian | Herpes Simplex Virus Infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.11(NN.II.9(92))] |
101794 | F | 211030 | - | Italian | Herpes Simplex Virus Infection | Adenosine deaminase 2 deficiency | PMID:28493328 [P5] |
101797 | M | 211108 | - | Caucasian | Severe Norovirus infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.QQ:II.1(97)]; PMID:34975878 [Fam.F258:P258] |
101799 | M | 211120 | - | Caucasian | Herpes Simplex Virus Infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.XX:II.1]; PMID:29729943 [Fam.XX:II.1(126)] |
101801 | M | 211151 | - | Human papilloma virus infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F260:P260]; PMID:37740092 [P20] | |
101808 | F | 211441 | 40 | Varicella zoster virus infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F265:P265] | |
101812 | F | 211521 | 3 | Varicella zoster virus infection | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F271:P271] | |
101814 | F | 211527 | 68 | German | Varicella zoster virus infection | NFKB1 insufficiency | PMID:34975878 [Fam.F274:P274]; PMID:32278790 [AK.I.1]; PMID:150198 [Fam.CP:435] |
101821 | F | 210122 | 11 | Varicella zoster virus infection | PMID:34390440 [NEG027] | ||
101923 | F | 210092 | - | Varicella zoster virus infection | PMID:34390440 [NEG061] | ||
101947 | M | 211945 | 29 | (unusual) Epstein-Barr virus infection | PMID:34975878 [Fam.F348:P348] | ||
101957 | M | 212517 | 25 | (unusual) Epstein-Barr virus infection | PMID:34975878 [Fam.F391:P391] | ||
101959 | M | 210641 | 18 | German | Herpes Simplex Virus Infection | Immunodeficiency, common variable, 1 | PMID:15507387 [Fam.C:II.4(II.4)]; PMID:16384931 [Fam.C:II.4(P6)]; PMID:19426217 [Fam.C:II.4(P6)]; PMID:28861081 [Fam.3:II.4(P6)] |
101987 | F | 214115 | - | Molluscum contagiosum | PMID:34390440 [NEG094] | ||
102005 | F | 214160 | - | Moroccan | Molluscum contagiosum | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES39] |
102082 | U | 214302 | - | Egyptian | Herpes Simplex Virus Infection | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES11] |
102143 | M | 214416 | - | Slovenian | Unusual infection | Immunodeficiency, common variable, 8 | PMID:28720148 [Patient] |
102157 | F | 214681 | - | Caucasian | Cytomegalovirus Infection Reactivation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:II.5(45)] |
102171 | F | 214852![]() |
3 | Japanese | Cytomegalovirus Infection Reactivation | OAS1 immunodeficiency | PMID:29455859 [Fam.B:II.1]; PMID:29185156 [P1] |
102175 | M | 210725![]() |
- | Caucasian | Herpes Simplex Virus Infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)] |
102181 | F | 214913 | 3 | Cytomegalovirus infection | Severe combined immunodeficiency 9A, T-B- | PMID:30877075 [Case 22]; PMID:28864286 [P1]; PMID:28769923 [P34] | |
102222 | M | 214917 | 2 | German | Herpes Simplex Virus Infection | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
102225 | M | 214920 | - | Romanian | (unusual) Epstein-Barr virus infection | Immunodeficiency 40 | PMID:35486341 [P063] |
102226 | F | 214921 | - | Russian | (unusual) Epstein-Barr virus infection | Activated p110-d syndrome 2 | PMID:35486341 [P094] |
102229 | F | 214922![]() |
- | Human papilloma virus infection | ARPC1B deficiency | PMID:32499645 [Fam.ARPC1B:II.1] | |
102262 | F | 214927![]() |
1 | Japanese | Cytomegalovirus infection | OAS1 immunodeficiency | PMID:29455859 [Fam.C:II.1]; PMID:34145065 [P5(II.1)]; PMID:29185156 [P2] |
102269 | M | 214928![]() |
0 | Japanese | Cytomegalovirus infection | OAS1 immunodeficiency | PMID:29455859 [Fam.A:II.3] |
102426 | F | 214949![]() |
9 | French | Varicella zoster virus infection | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:III.2(P4)] |
102439 | M | 214956![]() |
- | Bulgarian | Varicella zoster virus infection | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:II.2(P6)] |
102449 | F | 214958![]() |
2 | Mexican/Salvadoran | Varicella zoster virus infection | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.E:II.1(P9)] |
102509 | M | 214948![]() |
- | Irish Traveller | (unusual) Viral infection | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.12(P3)]; PMID:22354167 [Fam.A:IV.12(P1.3)] |
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)] |
102719 | F | 214981![]() |
0 | Canadian | (unusual) Viral infection | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:II.2(Patient)]; PMID:36546480 [Fam.1:II.2(II-2)] |
102729 | M | 214981![]() |
0 | Canadian | (unusual) Viral infection | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.1]; PMID:36546480 [Fam.1:III.1(III-1)] |
102730 | M | 214981![]() |
0,1 | Canadian | (unusual) Viral infection,Severe parainfluenza infection | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.2]; PMID:36546480 [Fam.1:III.2(III-2)] |
102731 | F | 214982![]() |
- | Colombian | Herpes Simplex Virus Infection | Immunodeficiency 99 | PMID:32484799 [Patient(II.2)] |
102803 | F | 214991![]() |
8 | North American | Human papilloma virus infection | Immunodeficiency 8 | PMID:25073507 [P1(II.2)] |
102804 | M | 214991![]() |
7 | North American | Human papilloma virus infection | Immunodeficiency 8 | PMID:25073507 [Fam.P1:II.1(P2)] |
102808 | M | 214992![]() |
1 | Turkish | Varicella zoster virus infection | Immunodeficiency 8 | PMID:26476480 [P1(II.1)] |
102815 | M | 214994 | - | (unusual) Viral infection | Immunodeficiency 8 | PMID:34913575 [Patient] | |
102865 | F | 214996![]() |
3 | Italian | (unusual) Epstein-Barr virus infection | ARPC1B deficiency | Hartnup disease | PMID:35967303 [PtII-1(II.1)]; PMID:35967303 [PtII-1(II.1)] |
102881 | F | 215003![]() |
-,1 | Portuguese | Rotavirus infection,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![]() |
-,0 | Admixed | Herpes Simplex Virus Infection,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] |
102901 | F | 215008![]() |
1 | Brasilian | Cytomegalovirus Infection Reactivation | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:35064468 [patient(II.2)] |
102930 | F | 215031 | - | Severe Norovirus infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P19]; PMID:37419334 [P19(22)] | |
102933 | M | 215034 | - | Severe Norovirus infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P22]; PMID:37419334 [P22(22)] | |
102934 | F | 215035![]() |
- | Caucasian | (unusual) Epstein-Barr virus infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P23]; PMID:33464451 [P14(III.1)]; PMID:37419334 [P23(22)] |
102935 | M | 215035![]() |
- | Caucasian | Herpes Simplex Virus Infection | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P24]; PMID:33464451 [Fam.P14:III.2(P15)]; PMID:37419334 [P15(27)] |
102962 | F | 215058![]() |
1,0 | North American | (unusual) Viral infection,Severe parainfluenza infection | T-cell immunodeficiency with thymic aplasia | PMID:31566583 [P1(II.1)]; PMID:37419334 [P1] |
103018 | M | 215085![]() |
- | Japanese | Herpes Simplex Virus Infection | Immunodeficiency 35 | PMID:17676033 [Tyk2 Pt]; PMID:17088085 [Patient] |
103027 | F | 215087![]() |
- | Hungarian | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN133]; PMID:18706697 [Fam.2:I.2(N1)] |
103051 | M | 215095![]() |
1,1 | Finnish | (unusual) Viral infection,Herpes Simplex Virus Infection | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.7(P1)] |
103061 | M | 215095![]() |
3 | Finnish | Molluscum contagiosum | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.9(P2)] |
103072 | F | 215098![]() |
- | Finnish | Rubella | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F4:II.1(P5)] |
103076 | F | 215099![]() |
3 | Omani | (unusual) Epstein-Barr virus infection | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.5(P6)] |
103113 | M | 215100![]() |
-,- | Iranian | Cytomegalovirus infection,Unusual infection | Seizures, cortical blindness, microcephaly syndrome | PMID:36212620 [Patient(II.1)] |
103292 | F | 215114 | - | German | Varicella zoster virus infection | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P5] |
103462 | F | 215132![]() |
- | Moroccan | Cytomegalovirus infection | ARPC1B deficiency | PMID:35767111 [P4(II.2)] |
103473 | F | 215134![]() |
2 | French | Cytomegalovirus infection | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.1(P1)]; PMID:14702466 [Fam.1:II.1(P1)] |
103478 | M | 215135![]() |
- | French | Severe Adenovirus infection | Immunodeficiency 55 | PMID:28414293 [Fam.B:II.1(P3)] |
103482 | F | 215136![]() |
1 | British | Herpes Simplex Virus Infection | Immunodeficiency 55 | PMID:28414293 [Fam.C:II.1(P4)] |
103542 | M | 215156![]() |
- | Mexican | (unusual) Epstein-Barr virus infection | ARPC1B deficiency | PMID:36708766 [Fam.C:II.3(P5)] |
103788 | M | 215242![]() |
- | South Korean | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:19348930 [Patient(II.1)] |
103880 | F | 215269![]() |
3 | Finnish | Varicella zoster virus infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
103998 | M | 215319![]() |
- | Molluscum contagiosum | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P2] | |
103999 | M | 215320![]() |
- | Varicella zoster virus infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P3] | |
104000 | M | 215321 | - | Human papilloma virus infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P4] | |
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] |
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![]() |
8 | Spanish | Herpes Simplex Virus Infection | Early-onset atopic inflammation | PMID:36884218 [Fam.B:II.2(P2)] |
104453 | F | 215530![]() |
- | European | (unusual) Epstein-Barr virus infection | Early-onset atopic inflammation | PMID:36884218 [Fam.D:II.1(P5)] |
104554 | M | 215551![]() |
- | Pakistani | Varicella zoster virus infection | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27523608 [Fam.1:V.2(V:2)]; PMID:27559085 [Fam.1:V.2(P1)]; PMID:35587511 [Fam.G:II.2(4)]; PMID:34797715 [P1]; PMID:38914362 [Fam.A:V.2(023)] |
104635 | M | 215561![]() |
- | Rotavirus infection | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.D:II.1(P4)] | |
104639 | F | 215562 | 15 | Iraqi | Severe Adenovirus infection | Immunodeficiency 91 and hyperinflammation | PMID:33872655 [Fam.A:II.2(P1.2)] |
104653 | M | 215564![]() |
18 | Mexican | HIV Infection | 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)] |
104845 | F | 215579![]() |
15,- | European | Unusual infection,Varicella zoster virus 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)] |
104886 | F | 215613![]() |
- | Caucasian | Herpes Simplex Virus 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 | Herpes Simplex Virus 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)] |
104942 | F | 215622![]() |
- | Dutch | Severe Norovirus infection | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.18(III.18)]; PMID:26279205 [Fam.NL1:III.19(57)]; PMID:29403474 [Fam.NL1 (5):III.19(57)]; PMID:150198 [Fam.AA:III.19(045)]; PMID:35242131 [Fam.2:I.1(P2)] |
104953 | F | 215622![]() |
74 | Dutch | Severe influenza infection | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.14(II.14)]; PMID:26279205 [Fam.NL1:II.18(16)]; PMID:29403474 [Fam.NL1 (5):II.18(16)]; PMID:11583829 [Fam.1:II.17(II:17)]; PMID:16639407 [Fam.1:II.18(16)]; PMID:150198 [Fam.AA:II.18(020)] |
105045 | M | 215631![]() |
- | Caucasian | Molluscum contagiosum | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P10] |
105051 | F | 215634![]() |
- | Severe Norovirus infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:29180260 [Patient(II.1)] | |
105057 | F | 215635![]() |
- | German | (unusual) Epstein-Barr virus infection | NFKB1 insufficiency | PMID:32278790 [S.I.1]; PMID:29403474 [Patient 1 (8)]; PMID:27365489 [Fam.1:II.1(Pat.1)]; PMID:150198 [Fam.AE:II.1(121)] |
105075 | M | 215636 | 4 | Spanish | Varicella zoster virus infection | Combined immunodeficiency 36 | PMID:35464398 [P5(II.1)] |
105088 | M | 215638 | - | Japanese | Herpes Simplex Virus 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] |
105102 | M | 215640![]() |
5 | European | Molluscum contagiosum | NFKB1 insufficiency | PMID:32278790 [Fam.A:III.3(III.3)]; PMID:29477724 [Fam.A:III.3(III:3)]; PMID:150198 [Fam.AU:III.3(236)]; PMID:32918165 [Fam.A:III.3(Index)] |
105105 | F | 215643![]() |
18 | Caucasian | (unusual) Epstein-Barr virus infection | NFKB1 insufficiency | PMID:32278790 [Fam.AB:II.1(II.1)]; PMID:29403474 [Fam.(7):II.1(Index)]; PMID:27338827 [Fam.1:II.1(II-1)]; PMID:150198 [Fam.AD:II.1(117)] |
105112 | F | 215646 | - | Herpes Simplex Virus Infection | NFKB1 insufficiency | PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147] | |
105129 | M | 215647![]() |
- | Varicella zoster virus infection | 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)] | |
105130 | F | 215647![]() |
- | Varicella zoster virus infection | NFKB1 insufficiency | PMID:27379089 [Fam.1:c2(P2)]; PMID:32278790 [Fam.BA:II.2(II.2)]; PMID:29403474 [Fam.(10):c2(Patient 2)]; PMID:150198 [Fam.AG:IV.2(144)] | |
105142 | M | 210314![]() |
- | German | Varicella zoster virus infection | NFKB1 insufficiency | PMID:32278790 [Fam.BF:II.1(II.1)]; PMID:29403474 [Fam.(13):II.2(Patient 3)]; PMID:27923702 [Fam.191:II.2(Patient 3)]; PMID:150198 [Fam.AO:II.3(165)] |
105143 | F | 215650 | 60 | German | Severe Norovirus infection | NFKB1 insufficiency | PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005] |
105172 | M | 215659 | 16 | Caucasian | Cytomegalovirus Infection Reactivation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.T:II.1(T.II.1 (48))]; PMID:27102614 [Fam.A:II.1(1)] |
105180 | M | 215662 | - | Caucasian | Herpes Simplex Virus 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![]() |
2 | Iranian | Varicella zoster virus infection | Immunodeficiency, common variable, 8 | PMID:27888588 [Case(II.1)] |
105197 | M | 215666![]() |
25 | Finnish | Herpes Simplex Virus Infection | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.3(III.3)]; PMID:29403474 [Fam.1 (9):III.3(F1.III-3)]; PMID:28115215 [Fam.1:III.3(F1.III-3)]; PMID:150198 [Fam.AQ:III.3(177)]; PMID:36356849 [Fam.6:III.3(F6:III:3)]; PMID:36105815 [Fam.H67R:III.3(H67R/4)] |
105212 | F | 215666![]() |
- | Finnish | Varicella zoster virus infection | NFKB1 insufficiency | PMID:32278790 [Fam.F1:II.4(II.4)]; PMID:29403474 [Fam.1 (9):II.4(F1.II-4)]; PMID:28115215 [Fam.1:II.4(F1.II-4)]; PMID:150198 [Fam.AQ:II.4(174)]; PMID:36356849 [Fam.6:II.4(F6:II:4)]; PMID:36105815 [Fam.H67R:II.4(H67R/2)] |
105220 | F | 215666![]() |
- | Finnish | Varicella zoster virus infection | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.8(III.8)]; PMID:29403474 [Fam.1 (9):III.8(F1.III-8)]; PMID:28115215 [Fam.1:III.8(F1.III-8)]; PMID:150198 [Fam.AQ:III.8(182)]; PMID:36356849 [Fam.6:III.8(F6:III:8)]; PMID:36105815 [Fam.H67R:III.8(H67R/7)] |
105231 | M | 215671![]() |
- | Finnish | Varicella zoster virus infection | NFKB1 insufficiency | PMID:32278790 [Fam.F2:III.2(III.2)]; PMID:29403474 [Fam.2 (9):III.2(F2.III-2)]; PMID:28115215 [Fam.2:III.2(F2.III-2)]; PMID:150198 [Fam.AR:III.2(193)]; PMID:36356849 [Fam.5:III.2(F5:III:2)] |
105249 | M | 215676 | - | Turkish | Severe Adenovirus infection | Immunodeficiency, common variable, 8 | PMID:28956255 [Fam.P2:II.2] |
105316 | U | 215691 | 35 | European | Cytomegalovirus infection | NFKB1 insufficiency | PMID:32278790 [H.II.1]; PMID:29477724 [Fam.H:II.1(II:1)]; PMID:150198 [Fam.BB:267] |
105317 | M | 215692![]() |
42 | European | Cytomegalovirus 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 | Varicella zoster virus infection | NFKB1 insufficiency | PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285] |
105333 | F | 215695 | - | European | (unusual) Epstein-Barr virus infection | NFKB1 insufficiency | PMID:32278790 [N.II.1]; PMID:29477724 [Fam.N:II.1(II:1)]; PMID:150198 [Fam.BH:286] |
105335 | U | 215697 | - | European | Severe Norovirus infection | NFKB1 insufficiency | PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288] |
105337 | U | 215699 | 12 | European | Varicella zoster virus infection | NFKB1 insufficiency | PMID:32278790 [I.II.1]; PMID:29477724 [Fam.I:II.1(I:II-1)]; PMID:150198 [Fam.BC:268] |
105348 | M | 215710 | - | Varicella zoster virus infection | Combined immunodeficiency with skin-hair depigmentation | PMID:29408330 [P1(II.-)] | |
105349 | F | 215711 | 9 | Herpes Simplex Virus Infection | Combined immunodeficiency with skin-hair depigmentation | PMID:29408330 [P2] | |
105362 | M | 215721![]() |
1 | Iraqi | Cytomegalovirus infection | Immunodeficiency 87 | PMID:31308374 [Fam.B:II.1(P3)] |
105363 | F | 215722 | - | Afro-American | Herpes Simplex Virus Infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)] |
105378 | F | 215729 | - | (unusual) Epstein-Barr virus infection | Immunodeficiency 84 | PMID:34155405 [Fam.1:II.3(p1)] | |
105379 | M | 215730 | - | (unusual) Epstein-Barr virus infection | Immunodeficiency 84 | PMID:34155405 [Fam.2:III.2(p2)] | |
105380 | F | 215731 | - | (unusual) Epstein-Barr virus infection | Immunodeficiency 84 | PMID:34155405 [Fam.2:III.1(p3)] | |
105396 | F | 215733![]() |
- | Moroccan | Cytomegalovirus infection | Immunodeficiency 87 | PMID:32562707 [Fam.1:II.4(Pt 4)] |
105412 | F | 215762![]() |
27 | Caucasian | Severe Norovirus infection | 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)] |
105423 | M | 215765![]() |
- | Caucasian | Severe Norovirus infection | NFKB1 insufficiency | PMID:150198 [Fam.BO:II.2(308)]; PMID:30761159 [Fam.1:II.2(patient)] |
105424 | M | 215766![]() |
1 | Admixed | Severe Norovirus infection | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.F:II.1(P8)]; PMID:25457153 [Fam.1:II.2(P1)]; PMID:25075846 [Fam.1:II.2(older-sib)] |
105428 | M | 215766![]() |
0 | Admixed | Herpes Simplex Virus Infection | 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)] |
105450 | F | 215770![]() |
- | Caucasian | Varicella zoster virus infection | NFKB1 insufficiency | PMID:32278790 [BI.I.1]; PMID:150198 [Fam.BU:II.1(337)]; PMID:31803180 [Fam.D:II.1(S7)]; PMID:34619682 [P.150] |
105453 | M | 215771![]() |
6 | Caucasian | Varicella zoster virus infection | NFKB1 insufficiency | PMID:32278790 [BO.I.2]; PMID:150198 [Fam.BV:II.3(342)]; PMID:31803180 [Fam.E:II.3(S8)]; PMID:36105815 [Fam.R157P:II.3(S8)] |
105481 | M | 215777![]() |
- | Haitian/Hispanic | Cytomegalovirus infection | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.A:II.1(A.1)] |
105504 | F | 215783![]() |
- | Asian | Cytomegalovirus infection | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.E:II.1(E.1)] |
105507 | M | 215784![]() |
- | Caucasian | Cytomegalovirus infection | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.D:I.1(D.I.1)] |
105509 | M | 215784![]() |
- | Caucasian | Cytomegalovirus infection | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.D:II.1(D.II.1)] |
105510 | F | 215784![]() |
- | Caucasian | Cytomegalovirus infection | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.D:II.2(D.II.2)] |
105529 | M | 215789 | - | Molluscum contagiosum | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:27379089 [P7] | |
105530 | F | 215790 | - | Molluscum contagiosum | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:27379089 [P8] | |
105533 | M | 215791 | - | Portuguese | Unusual infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient(I.1)] |
105543 | M | 215797 | - | Cytomegalovirus infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:28983403 [P7] | |
105546 | M | 215800![]() |
- | Caucasian | Cytomegalovirus Infection Reactivation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29867916 [N211(II.1)]; PMID:29729943 [Fam.O:II.1(O.II.1 (42))] |
105567 | M | 215808 | - | Turkish | Cytomegalovirus infection | Immunodeficiency, common variable, 8 | PMID:31026575 [P3]; PMID:31432443 [P12] |
105623 | M | 215822 | 2 | Caucasian | Varicella zoster virus infection | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:II.6(P2)] |
105628 | F | 215822 | - | Caucasian | Herpes Simplex Virus Infection | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:III.3(P5)] |
105630 | M | 215824 | - | Unusual infection | Immunodeficiency 84 | PMID:34694366 [Fam.1:II.2(p2)] | |
105647 | M | 215832 | - | Rotavirus infection | Immunodeficiency, common variable, 8 | PMID:34368306 [Patient 3] | |
105657 | F | 215835 | - | Herpes Simplex Virus Infection | Activated p110-delta syndrome 1 | PMID:27379089 [11] | |
105659 | F | 215836 | - | Severe Norovirus infection | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.2(Sibling 2)] | |
105660 | F | 215836 | 3 | Molluscum contagiosum | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.3(Sibling 3)] | |
105679 | M | 215839![]() |
2 | Caucasian | Varicella zoster virus infection | NFKB1 insufficiency | PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)] |
105732 | M | 215844 | - | (unusual) Epstein-Barr virus infection | Immunodeficiency, X-linked, with magnesium defect, EBV infection and neoplasia | PMID:21796205 [Fam.A:IV.1(1)] | |
105751 | M | 215854 | 28 | Rotavirus infection | NFKB1 insufficiency | PMID:32278790 [AW.I.1]; PMID:150198 [Fam.CR:437] | |
105773 | M | 215866 | - | German | Severe Norovirus infection | NFKB1 insufficiency | PMID:32278790 [BU.I.1]; PMID:150198 [Fam.DF:463]; PMID:36105815 [A245V] |
105775 | F | 215868 | 36 | German | Human papilloma virus infection | NFKB1 insufficiency | PMID:32278790 [BX.I.1]; PMID:150198 [Fam.DI:466]; PMID:36105815 [Y286N] |
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)] |
105830 | M | 215887 | 4 | Polish | Cytomegalovirus infection | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.2 Sporadic pati:2 Sporadic patient 2] |
105847 | M | 215890![]() |
- | Spanish | Varicella zoster virus infection | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.5:II.1(5.1)] |
105910 | F | 215905 | - | Caucasian | Cytomegalovirus Infection Reactivation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [K.II.1]; PMID:29729943 [Fam.K:II.1(K.II.1 (33))] |
105926 | M | 215909 | - | Japanese | Cytomegalovirus Infection Reactivation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.N:III.2(N.III.2 (41))]; PMID:35087518 [Fam.12:III.2(12.4)] |
105968 | M | 215916 | - | Japanese | Herpes Simplex Virus Infection | CTLA4 haploinsufficiency with autoimmune infiltration | 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)] |
105974 | M | 215918 | - | Japanese | Herpes Simplex Virus Infection | CTLA4 haploinsufficiency with autoimmune infiltration | 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)] |
105977 | F | 215918 | -,- | Japanese | Herpes Simplex Virus Infection,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)] |
105981 | M | 215919 | - | Caucasian | Varicella zoster virus infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Y:II.1(Y.II.1 (61))] |
106041 | M | 215926 | - | Caucasian | Herpes Simplex Virus Infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.EE:II.1(EE.II.1 (76))] |
106047 | F | 215930 | - | Caucasian | Herpes Simplex Virus Infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
106051 | F | 210991 | - | Caucasian | Cytomegalovirus Infection Reactivation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.2(NN.II.1 (89))] |
106057 | F | 210991 | - | Caucasian | Herpes Simplex Virus Infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))] |
106068 | M | 215931 | - | Caucasian | Herpes Simplex Virus Infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.PP:II.1(PP.II.1 (96))] |
106090 | M | 215946![]() |
- | Saudi | (unusual) Epstein-Barr virus infection | T-cell immunodeficiency with thymic aplasia | PMID:33464451 [P11]; PMID:37419334 [P11(27)]; PMID:31151968 [Fam.1:II.2(Patient)] |
106094 | M | 215947 | - | Caucasian | Cytomegalovirus Infection Reactivation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))] |
106106 | F | 215951![]() |
10 | Iranian | Severe SARS-CoV-2 infection | NFKB1 insufficiency | PMID:150198 [Fam.FF:II.1(626)]; PMID:36113674 [P5(II.1)] |
106145 | M | 215954 | - | Slovak | (unusual) Epstein-Barr virus infection | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:33464451 [P9]; PMID:37419334 [P9(27)] |
106150 | F | 215955 | - | Turkish | Cytomegalovirus infection | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:33464451 [P10] |
106164 | M | 215963 | - | Turkish | Viremia | Immunodeficiency, common variable, 8 | PMID:31432443 [P8] |
106200 | F | 215975![]() |
66 | Finnish | Herpes Simplex Virus Infection | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.2(693)]; PMID:36356849 [Fam.2:III.2(F2:III:2)] |
106216 | F | 215975![]() |
20 | Finnish | Herpes Simplex Virus Infection | NFKB1 insufficiency | PMID:150198 [Fam.FM:IV.2(701)]; PMID:36356849 [Fam.2:IV.2(F2:IV:2)] |
106279 | M | 215977 | 1 | Caucasian | 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)] |
106313 | F | 215982 | - | Caucasian | Herpes Simplex Virus Infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P1] |
106320 | M | 215984 | - | Varicella zoster virus infection | NFKB1 insufficiency | PMID:150198 [Fam.EX:608]; PMID:36105815 [L196V] | |
106347 | M | 215994 | 25 | Varicella zoster virus infection | NFKB1 insufficiency | PMID:150198 [Fam.EY:609]; PMID:36105815 [R198C] | |
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)] | |
106351 | F | 215997 | - | Human papilloma virus infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.CZ:CZ.II.2] | |
106352 | M | 215998![]() |
- | Rotavirus infection | Activated p110-d syndrome 2 | PMID:34922003 [Fam.B:II.1(B1)] | |
106358 | M | 216000 | 19 | Severe influenza infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31993940 [Patient(II.1)] | |
106363 | F | 216001![]() |
1 | Argentinian | Varicella zoster virus infection | Immunodeficiency 117 | PMID:36736301 [Fam.A:II.1(P1)] |
106367 | F | 216003![]() |
1 | Turkish | Severe influenza infection | Immunodeficiency 117 | PMID:36736301 [Fam.B:II.1(P2)] |
106390 | M | 216005 | 23 | Cytomegalovirus infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:32996901 [Patient(II.1)] | |
106406 | M | 216007 | 29 | Cytomegalovirus Infection Reactivation | NFKB1 insufficiency | PMID:150198 [Fam.FK:662]; PMID:35242131 [P1] | |
106448 | F | 216016![]() |
2 | Japanese | Herpes Simplex Virus Infection | Autoinflammation, panniculitis, and dermatosis syndrome 2 | PMID:38914362 [Fam.R:II.1(130)]; PMID:38652464 [Fam.1:II.1(Patient)] |
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] | |
106555 | M | 216078![]() |
1 | Caucasian | Varicella zoster virus infection | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)] |
106646 | M | 216099 | - | Unusual infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34628649 [Patient(III.1)] | |
106669 | M | 216103 | -,- | Cytomegalovirus infection,Unusual infection | NFKB1 insufficiency | PMID:150198 [Fam.EE:565]; PMID:35281075 [5] | |
106697 | F | 216110 | - | Japanese | (unusual) Epstein-Barr virus infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30048690 [Fam.7:7.1]; PMID:35087518 [Fam.20:20.1] |
106750 | F | 216121![]() |
0 | Palestinian | Rotavirus infection | T-negative/B-positive SCID type 1 | PMID:32921793 [Fam.B:II.1(P1-B)] |
106767 | M | 216125 | 3 | Molluscum contagiosum | Combined immunodeficiency 14B | PMID:31449058 [P1(II.1)] | |
106811 | M | 216157 | 30 | German | Varicella zoster virus infection | Immunodeficiency, common variable, 14 | PMID:39059757 [P3] |
106840 | M | 216167 | - | SouthEast Asian | Severe Norovirus infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35242131 [3] |
106939 | M | 216189![]() |
25 | Caucasian | Human papilloma virus infection | NFKB1 insufficiency | PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)] |
106957 | F | 216198 | - | Herpes Simplex Virus Infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P13] | |
106958 | M | 216199 | - | Severe Adenovirus infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P14] | |
107096 | F | 216332 | - | Japanese | (unusual) Viral infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [P3] |
107100 | M | 216334![]() |
2 | Japanese | Varicella zoster virus infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.5:II.1(P5.1)] |
107103 | M | 216335![]() |
- | Chinese (China) | Cytomegalovirus infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt1(II.2)] |
107151 | M | 216364![]() |
- | Turkish | Herpes Simplex Virus Infection | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.A:II.1(Patient 1)] |
107156 | F | 216365![]() |
1 | Turkish | Herpes Simplex Virus Infection | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.B:II.2(Patient 2)] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).