(unusual) Epstein-Barr virus infection
Basic details
Preferred term: (unusual) Epstein-Barr virus infection
Alt. terms: severe EBV infection | Epstein Barr virus infection
HPO term: Severe Epstein Barr virus infection
HPO code: HP:0031693
GenIA ID: 378
Last updated on: 2023-10-27 08:20:43
Cross ref. with other ontologies
NCIT: C38759
MESH: -
EFO:0000769
OAE: -
SNOMEDCT: -
ICD10: -
Description
Infection with human herpesvirus 4; which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY). It may be transmitted by contact with the saliva.
Hierarchical classification
PARENT terms
TERM
(unusual) Epstein-Barr virus infection
Reported patients added to GenIA DB
| SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
|---|---|---|---|---|---|---|---|
| 101015 | M | 210203 | - | German | (unusual) Epstein-Barr 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] |
| 101037 | M | 210182 |
- | Caucasian | (unusual) Epstein-Barr 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 | (unusual) Epstein-Barr 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 | (unusual) Epstein-Barr virus infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15] |
| 101043 | M | 210725 |
- | Caucasian | (unusual) Epstein-Barr virus infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017] |
| 101051 | F | 210205 |
- | Caucasian | Infectious mononucleosis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.5(A.III.1)]; PMID:30250467 [A.III.1]; PMID:29729943 [Fam.A:III.5(A.III.1 (8))]; PMID:34975878 [Fam.F018:III.1(P021)]; PMID:27418640 [P10(5)] |
| 101082 | F | 211226 | - | (unusual) Viral infection | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F048:P048] | |
| 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 | Immunodeficiency, common variable, 8 | PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4] |
| 101115 | F | 210778 | - | Caucasian | (unusual) Viral infection | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
| 101132 | M | 210304 | 19 | 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] | |
| 101155 | M | 210235 | -,- | German | (unusual) Epstein-Barr virus infection,(unusual) Viral 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) Viral infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F101:P101] | |
| 101204 | M | 211492 | 45 | German | (unusual) Epstein-Barr virus infection | PMID:34975878 [Fam.F126:P126] | |
| 101461 | M | 210929 | - | German | (unusual) Epstein-Barr virus 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] |
| 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)] |
| 101529 | M | 211278 | 20 | (unusual) Epstein-Barr virus infection | PMID:34975878 [Fam.F176:P176] | ||
| 101651 | M | 210939 | - | (unusual) Epstein-Barr virus infection | PMID:34975878 [Fam.F226:P226] | ||
| 101797 | M | 211108 | - | Caucasian | (unusual) Epstein-Barr virus infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.QQ:II.1(97)]; PMID:34975878 [Fam.F258:P258] |
| 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] | ||
| 102175 | M | 210725 |
- | Caucasian | (unusual) Epstein-Barr virus infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)] |
| 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] |
| 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)] |
| 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 | Canadian | (unusual) Viral infection | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.2]; PMID:36546480 [Fam.1:III.2(III-2)] |
| 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)] |
| 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)] |
| 102962 | F | 215058 |
0 | North American | (unusual) Viral infection | T-cell immunodeficiency with thymic aplasia | PMID:31566583 [P1(II.1)]; PMID:37419334 [P1] |
| 103051 | M | 215095 |
1 | Finnish | (unusual) Viral infection | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.7(P1)] |
| 103076 | F | 215099 |
3 | Omani | (unusual) Epstein-Barr virus infection | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.5(P6)] |
| 103542 | M | 215156 |
- | Mexican | (unusual) Epstein-Barr virus infection | ARPC1B deficiency | PMID:36708766 [Fam.C:II.3(P5)] |
| 104453 | F | 215530 |
- | European | (unusual) Epstein-Barr virus infection | Early-onset atopic inflammation | PMID:36884218 [Fam.D:II.1(P5)] |
| 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)] |
| 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)] |
| 105180 | M | 215662 | - | Caucasian | (unusual) Epstein-Barr virus infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)] |
| 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] |
| 105357 | M | 215719 | 4 | Infectious mononucleosis | Immunodeficiency, common variable, 8 | PMID:29804237 [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)] | |
| 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)] | |
| 105910 | F | 215905 | - | Caucasian | (unusual) Epstein-Barr virus infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [K.II.1]; PMID:29729943 [Fam.K:II.1(K.II.1 (33))] |
| 105926 | M | 215909 | - | Japanese | (unusual) Epstein-Barr virus infection | 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 | (unusual) Epstein-Barr 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 | (unusual) Epstein-Barr 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 | (unusual) Epstein-Barr virus 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)] |
| 106047 | F | 215930 | - | Caucasian | (unusual) Epstein-Barr virus infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
| 106057 | F | 210991 | - | Caucasian | (unusual) Epstein-Barr virus infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))] |
| 106068 | M | 215931 | - | Caucasian | (unusual) Epstein-Barr 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)] |
| 106145 | M | 215954 | - | Slovak | (unusual) Epstein-Barr virus infection | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:33464451 [P9]; PMID:37419334 [P9(27)] |
| 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] |
| 106939 | M | 216189 |
49 | Caucasian | (unusual) Epstein-Barr virus infection | NFKB1 insufficiency | PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)] |
| 107096 | F | 216332 | - | Japanese | (unusual) Viral infection | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [P3] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).