Leukocytosis
Basic details
Preferred term: Leukocytosis
Alt. terms: High white blood count | elevated leukocyte number
HPO term: Leukocytosis
HPO code: HP:0001974
GenIA ID: 249
Last updated on: 2021-12-10 17:55:48
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
An abnormal increase in the number of leukocytes in the blood.
Hierarchical classification
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101045 | M | 210205![]() |
22 | Caucasian | Leukocytosis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.13(A.III.3)]; PMID:29729943 [Fam.A:III.3(9)]; PMID:34975878 [Fam.F018:III.2(P018)]; PMID:27418640 [P11(5)] |
101062 | M | 212603![]() |
-,1 | South Asian | Eosinophilia,Leukocytosis | ARPC1B deficiency | PMID:28368018 [Fam.1:II.1(P1)]; PMID:30771411 [P9]; PMID:34673575 [Fam.1:II.1(P1)] |
101079 | M | 211310 | - | Eosinophilia | PMID:34975878 [Fam.F045:P045]; PMID:34390440 [NEG005] | ||
101110 | M | 212356 | - | Eosinophilia | Wiskott-Aldrich syndrome | PMID:34390440 [HIES51] | |
101112 | M | 212366 | - | Eosinophilia | PMID:34390440 [NEG012] | ||
101168 | M | 212349 | - | Eosinophilia | PMID:34390440 [NEG015] | ||
101190 | F | 212374 | - | Eosinophilia | PMID:34390440 [NEG020] | ||
101192 | M | 212376 | - | Eosinophilia | PMID:34390440 [NEG021] | ||
101193 | F | 212377 | - | Egyptian | Eosinophilia | PMID:34390440 [NEG022] | |
101194 | M | 212378 | - | Egyptian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES49] |
101195 | F | 212379 | - | Egyptian | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES19] |
101197 | F | 214344 | - | Egyptian | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES18] |
101200 | F | 212380 | - | Eosinophilia | PMID:34390440 [NEG024] | ||
101425 | M | 210205![]() |
43 | Caucasian | Eosinophilia | 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)] |
101566 | F | 210575![]() |
- | German | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN94]; PMID:18835223 [UPN94]; GRID:000796 [UPN94(II.1)] |
101572 | M | 212598 | 25 | Turkish | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES46] |
101580 | M | 212601 | - | Iranian | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES17] |
101582 | F | 212602 | - | Eosinophilia | PMID:34390440 [NEG025] | ||
101587 | M | 212604![]() |
-,- | Scottish | Eosinophilia,Leukocytosis | ARPC1B deficiency | PMID:28368018 [Fam.2:II.1(P2)]; PMID:30771411 [P10(II.1)]; PMID:34673575 [Fam.2:II.3(P2)] |
101591 | M | 212604![]() |
-,- | Scottish | Eosinophilia,Leukocytosis | ARPC1B deficiency | PMID:28368018 [Fam.2:II.2(P3)]; PMID:30771411 [Fam.P10:II.2(P11)]; PMID:34673575 [Fam.2:II.2(P3)] |
101592 | M | 212605![]() |
0,0 | Moroccan | Eosinophilia,Leukocytosis | ARPC1B deficiency | PMID:27965109 [P1(II.1)]; PMID:30771411 [P1]; PMID:31710310 [Patient]; PMID:32499645 [Case 1]; PMID:34135903 [Patient] |
101596 | M | 212618![]() |
1,- | Jewish | Eosinophilia,Leukocytosis | ARPC1B deficiency | PMID:29127144 [P1(II.1)] |
101597 | M | 212618![]() |
0 | Jewish | Eosinophilia | ARPC1B deficiency | PMID:29127144 [Fam.P1:II.10(P2)]; PMID:30254128 [P7]; PMID:35767111 [P6] |
101601 | M | 212619![]() |
- | Italian | Eosinophilia | ARPC1B deficiency | PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2] |
101604 | M | 212620![]() |
- | Italian | Eosinophilia | ARPC1B deficiency | PMID:30254128 [Fam.B:II.1(P2)]; PMID:30771411 [P3]; PMID:35967303 [Pt1]; PMID:35767111 [P1] |
101608 | M | 212621![]() |
- | Canadian | Eosinophilia | ARPC1B deficiency | PMID:30254128 [Fam.C:II.1(P3)]; PMID:16019263 [case]; PMID:35967303 [Pt3] |
101611 | M | 212622![]() |
- | Colombian | Eosinophilia | ARPC1B deficiency | PMID:30254128 [Fam.D:II.4(P4)] |
101622 | F | 212623![]() |
- | Moroccan | Eosinophilia | ARPC1B deficiency | PMID:30254128 [Fam.E:II.1(P5)] |
101631 | F | 212624![]() |
- | Turkish | Eosinophilia | ARPC1B deficiency | PMID:30254128 [Fam.F:II.1(P6)] |
101652 | M | 212629![]() |
2 | Nepalese | Eosinophilia | ARPC1B deficiency | PMID:30771411 [P4(II.1)] |
101667 | M | 212631![]() |
6 | Moroccan | Leukocytosis | ARPC1B deficiency | PMID:30771411 [P6(II.2)]; PMID:35767111 [P5] |
101687 | F | 212635![]() |
1 | Nepalese | Eosinophilia | ARPC1B deficiency | PMID:30771411 [P12(II.1)] |
101690 | F | 212636![]() |
15,15 | Jordanian | Leukocytosis,Lymphocytosis | ARPC1B deficiency | PMID:30771411 [P13(IV.5)] |
101834 | M | 212351 | - | German | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES41] |
101836 | M | 212346 | - | Eosinophilia | PMID:34390440 [NEG029] | ||
101850 | M | 212198 | - | Eosinophilia | PMID:34390440 [NEG032] | ||
101866 | M | 210070 | - | Eosinophilia | PMID:34390440 [NEG039] | ||
101875 | F | 210086 | - | Eosinophilia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34390440 [CMC19] | |
101880 | M | 212295 | - | Eosinophilia | PMID:34390440 [NEG047] | ||
101884 | M | 212237![]() |
- | Sudanese | Eosinophilia | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.3(A.II.3)] |
101892 | F | 212241 | - | Eosinophilia | PMID:34390440 [NEG048] | ||
101895 | M | 212286 | - | Eosinophilia | PMID:34390440 [NEG050] | ||
101903 | M | 212311 | - | Eosinophilia | PMID:34390440 [NEG053] | ||
101907 | F | 212325 | - | Eosinophilia | PMID:34390440 [NEG056] | ||
101925 | M | 210095 | - | Indian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [CMC20]; PMID:28667753 [case] |
101940 | F | 210110 | - | Eosinophilia | Mendelian Susceptibility to mycobacterial disease 1 | PMID:34390440 [CMC22] | |
101958 | F | 212666 | - | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES40] | |
101961 | M | 212237![]() |
- | Sudanese | Eosinophilia | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.1(A.II.1)] |
101962 | M | 212237![]() |
- | Sudanese | Eosinophilia | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.2(A.II.2)] |
101963 | F | 213965 | - | Eosinophilia | PMID:34390440 [NEG078] | ||
101964 | F | 213976 | - | Eosinophilia | PMID:34390440 [NEG079] | ||
101973 | F | 214053![]() |
17 | Turkish | Eosinophilia | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.6(D.II.4)]; PMID:34390440 [HIES52] |
101974 | F | 214053![]() |
30 | Turkish | Lymphocytosis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.3(D.II.2)] |
101982 | F | 214072 | - | Omani | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES06] |
101984 | F | 214091 | - | Eosinophilia | PMID:34390440 [NEG091] | ||
101985 | F | 214094 | - | Eosinophilia | PMID:34390440 [NEG092] | ||
101986 | M | 214100 | - | Egyptian | Eosinophilia | PMID:34390440 [NEG093] | |
101989 | F | 214121 | - | Eosinophilia | PMID:34390440 [NEG096] | ||
101991 | M | 214123 | - | Turkish | Eosinophilia | Immunodeficiency 103, susceptibility to fungal infection | PMID:34390440 [HIES03] |
101992 | F | 214128 | - | Eosinophilia | PMID:34390440 [NEG098] | ||
101993 | F | 214132 | - | Eosinophilia | PMID:34390440 [NEG099] | ||
101994 | M | 214135 | - | Eosinophilia | PMID:34390440 [NEG100] | ||
101995 | M | 214138 | - | Eosinophilia | PMID:34390440 [NEG101] | ||
101996 | M | 214139 | - | Eosinophilia | PMID:34390440 [NEG102] | ||
101997 | F | 214140 | - | Eosinophilia | PMID:34390440 [NEG103] | ||
101999 | F | 214143 | - | Moroccan | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES38] |
102002 | F | 214149 | - | Eosinophilia | PMID:34390440 [NEG107] | ||
102003 | M | 214151 | - | Eosinophilia | PMID:34390440 [NEG108] | ||
102005 | F | 214160 | - | Moroccan | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES39] |
102006 | F | 214161 | - | Eosinophilia | PMID:34390440 [NEG109] | ||
102008 | M | 214164 | - | Peruvian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES36] |
102010 | F | 214186 | - | Eosinophilia | PMID:34390440 [NEG112] | ||
102013 | F | 214190 | - | Eosinophilia | PMID:34390440 [NEG115] | ||
102014 | F | 214191 | - | Eosinophilia | PMID:34390440 [NEG116] | ||
102015 | M | 214192 | - | Eosinophilia | PMID:34390440 [NEG117] | ||
102026 | F | 214214 | - | Iranian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES35] |
102029 | M | 214219 | - | Eosinophilia | PMID:34390440 [NEG130] | ||
102031 | M | 214221 | - | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES07] | |
102033 | M | 214226 | - | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES33] | |
102035 | M | 214232 | - | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES34] | |
102040 | M | 214250 | - | Eosinophilia | PMID:34390440 [NEG138] | ||
102047 | M | 214258 | - | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES13] | |
102054 | F | 214266 | - | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES08] | |
102055 | F | 214273 | - | Iranian | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES22] |
102057 | M | 214275 | - | Iranian | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES25] |
102058 | M | 214276 | - | Iranian | Eosinophilia | Immunodeficiency 103, susceptibility to fungal infection | PMID:34390440 [HIES04] |
102064 | F | 214284 | - | Qatari | Eosinophilia | Netherton syndrome | PMID:34390440 [HIES30] |
102065 | M | 214285 | - | Egyptian | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES23] |
102067 | M | 214287 | - | Colombian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES44] |
102074 | F | 214294 | - | Egyptian | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES27]; PMID:32738296 [P2] |
102076 | M | 214296 | - | Egyptian | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES24] |
102077 | F | 214297 | - | Egyptian | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES10] |
102081 | M | 214301 | - | Egyptian | Eosinophilia | PMID:34390440 [NEG167] | |
102082 | U | 214302 | - | Egyptian | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES11] |
102083 | F | 214302 | - | Egyptian | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [NEG168] |
102084 | M | 214303 | - | Egyptian | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES02] |
102090 | M | 214309 | - | Eosinophilia | Immunodeficiency 58 | PMID:34390440 [HIES29] | |
102101 | M | 214320 | - | Turkish | Eosinophilia | Netherton syndrome | PMID:34390440 [HIES32] |
102105 | M | 214325 | - | Eosinophilia | PMID:34390440 [NEG185] | ||
102107 | M | 214329 | - | Portuguese | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES26] |
102108 | M | 214330 | - | Eosinophilia | PMID:34390440 [NEG187] | ||
102117 | F | 214341 | - | Egyptian | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES20] |
102118 | M | 214342 | - | Eosinophilia | PMID:34390440 [NEG195] | ||
102119 | M | 214343 | - | Egyptian | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES15] |
102120 | M | 214344 | - | Egyptian | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES21] |
102121 | M | 214345 | - | Egyptian | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES16] |
102122 | M | 214346 | - | Eosinophilia | PMID:34390440 [NEG196] | ||
102123 | M | 214347 | - | Macedonian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES50] |
102124 | F | 214351![]() |
- | Sudanese | Eosinophilia | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.5(B.II.4)] |
102129 | F | 214351![]() |
- | Sudanese | Eosinophilia | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.1(B.II.1)] |
102134 | M | 214352![]() |
- | Sudanese | Eosinophilia | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.C:II.6(C.II.6)] |
102144 | M | 214565 | - | Iranian | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES54] |
102239 | F | 214923![]() |
- | Brasilian | Eosinophilia | ARPC1B deficiency | GRID:000604 [case(II.2)]; PMID:37349293 [Fam.B:II.1(Patient)] |
102245 | M | 214924![]() |
14 | Afghanistani | Leukocytosis | ARPC1B deficiency | PMID:33679784 [Fam.II-6:II.1(II-1)] |
102247 | F | 214924![]() |
10 | Afghanistani | Leukocytosis | ARPC1B deficiency | PMID:33679784 [Fam.II-6:II.3(II-3)] |
102250 | M | 214924![]() |
1 | Afghanistani | Leukocytosis | ARPC1B deficiency | PMID:33679784 [II-6(II.6)]; PMID:35767111 [P7] |
102258 | M | 214926![]() |
0,0 | Mexican | Eosinophilia,Leukocytosis | ARPC1B deficiency | PMID:32683750 [case(II.3)]; PMID:36708766 [Fam.A:II.3(P2)] |
102260 | F | 214926![]() |
- | Mexican | Eosinophilia | ARPC1B deficiency | PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)] |
102262 | F | 214927![]() |
1 | Japanese | Lymphocytosis | OAS1 immunodeficiency | PMID:29455859 [Fam.C:II.1]; PMID:34145065 [P5(II.1)]; PMID:29185156 [P2] |
102267 | M | 214928![]() |
- | Japanese | Leukocytosis | OAS1 immunodeficiency | PMID:29455859 [Fam.A:II.1] |
102269 | M | 214928![]() |
- | Japanese | Leukocytosis | OAS1 immunodeficiency | PMID:29455859 [Fam.A:II.3] |
102270 | F | 214928![]() |
- | Japanese | Leukocytosis | OAS1 immunodeficiency | PMID:29455859 [Fam.A:II.4] |
102285 | F | 214932![]() |
0 | North American | Leukocytosis | OAS1 immunodeficiency | PMID:34145065 [P4(II.2)] |
102357 | M | 214937![]() |
1 | German | Eosinophilia | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.A:II.1(P1)] |
102396 | F | 214944![]() |
1 | Saudi | Eosinophilia | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.4(P5)] |
102397 | F | 214944![]() |
0 | Saudi | Eosinophilia | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.5(P6)] |
102410 | F | 214947![]() |
2 | South Asian | Eosinophilia | Hyper-IgE recurrent infection syndrome 4B | PMID:28747427 [Fam.A:II.3(P1)] |
102427 | M | 214950![]() |
- | French | Eosinophilia | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.B:II.3(P5)] |
102436 | F | 214956![]() |
12 | Bulgarian | Eosinophilia | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:III.1(P7)] |
102439 | M | 214956![]() |
38 | Bulgarian | Eosinophilia | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:II.2(P6)] |
102444 | M | 214957![]() |
- | Slovak | Eosinophilia | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.D:II.3(P8)] |
102449 | F | 214958![]() |
27 | Mexican/Salvadoran | Eosinophilia | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.E:II.1(P9)] |
102453 | F | 214959![]() |
22 | Turkish | Eosinophilia | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.F:II.2(P10)] |
102460 | M | 214960![]() |
18 | European | Leukocytosis | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.G:II.1(P11)] |
102466 | M | 214962![]() |
- | Polish | Eosinophilia | Immunodeficiency 94 | PMID:33517393 [Patient(III.7)] |
102474 | M | 214963![]() |
- | Admixed | Eosinophilia | Hyper-IgE recurrent infection syndrome 4B | PMID:33771552 [Patient(II.1)] |
102477 | M | 214964![]() |
2 | Turkish | Eosinophilia | Hyper-IgE recurrent infection syndrome 4B | PMID:30309848 [Patient(III.5)] |
102677 | M | 214980![]() |
4 | Pakistani | Leukocytosis | JAK1 deficiency | PMID:28008925 [Patient(II.4)] |
102719 | F | 214981![]() |
0 | Canadian | Eosinophilia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:II.2(Patient)]; PMID:36546480 [Fam.1:II.2(II-2)] |
102729 | M | 214981![]() |
0,0 | Canadian | Eosinophilia,Leukocytosis | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.1]; PMID:36546480 [Fam.1:III.1(III-1)] |
102730 | M | 214981![]() |
0,0 | Canadian | Eosinophilia,Leukocytosis | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.2]; PMID:36546480 [Fam.1:III.2(III-2)] |
102735 | F | 214983![]() |
8 | North American | Eosinophilia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:32750333 [Patient(II.2)] |
102739 | F | 214984![]() |
15,15 | Japanese | Eosinophilia,Leukocytosis | Autoinflammation, immune dysregulation, and eosinophilia | PMID:35046931 [Patient(II.1)] |
102769 | M | 214985![]() |
23 | Moroccan | Eosinophilia | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.A:II.2(P2)] |
102774 | F | 214985![]() |
16 | Moroccan | Eosinophilia | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.A:II.4(P3)] |
102796 | M | 214990![]() |
- | Lebanese | Eosinophilia | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.F:II.5(P8)] |
102865 | F | 214996![]() |
0 | Italian | Eosinophilia | ARPC1B deficiency | Hartnup disease | PMID:35967303 [PtII-1(II.1)]; PMID:35967303 [PtII-1(II.1)] |
102871 | F | 215001![]() |
1 | Italian | Eosinophilia | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:8911612 [A.D.]; PMID:10206641 [Patient(II.2)]; PMID:33464451 [P1(II.2)]; PMID:28077132 [Fam.1:II.2(P1)] |
102881 | F | 215003![]() |
1 | Portuguese | Eosinophilia | 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)] |
102901 | F | 215008![]() |
0 | Brasilian | Eosinophilia | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:35064468 [patient(II.2)] |
102925 | M | 215026 | - | Eosinophilia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P14]; PMID:37419334 [P14(22)] | |
102984 | F | 215074![]() |
- | European/American | Eosinophilia | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
102993 | F | 215077![]() |
- | Turkish | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 2] |
102996 | M | 215078![]() |
- | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 3] | |
103002 | F | 215080![]() |
- | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 5] | |
103009 | F | 215082![]() |
- | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 6] | |
103012 | M | 215083![]() |
- | Turkish | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 7] |
103015 | M | 215084![]() |
- | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 8] | |
103018 | M | 215085![]() |
- | Japanese | Eosinophilia | Immunodeficiency 35 | PMID:17676033 [Tyk2 Pt]; PMID:17088085 [Patient] |
103027 | F | 215087![]() |
- | Hungarian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN133]; PMID:18706697 [Fam.2:I.2(N1)] |
103031 | M | 215088 | - | Hungarian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN134]; PMID:18706697 [Fam.3:K] |
103113 | M | 215100![]() |
3 | Iranian | Leukocytosis | Seizures, cortical blindness, microcephaly syndrome | PMID:36212620 [Patient(II.1)] |
103281 | F | 215111![]() |
0,2 | Chinese (China) | Eosinophilia,Leukocytosis | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.1:II.2(P1)] |
103285 | F | 215112![]() |
1,0 | Ashkenazi Jewish | Eosinophilia,Leukocytosis | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.2:II.1(P2)] |
103473 | F | 215134![]() |
- | French | Eosinophilia | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.1(P1)]; PMID:14702466 [Fam.1:II.1(P1)] |
103529 | F | 215153![]() |
- | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J001:I.1(Proband)]; PMID:21288777 [Fam.1:I.2(Proband)] |
103531 | F | 215153![]() |
- | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J001:II.1(Daughter1)]; PMID:21288777 [Fam.1:II.1(Daughter)] |
103538 | F | 215155![]() |
-,- | Mexican | Eosinophilia,Leukocytosis | ARPC1B deficiency | PMID:36708766 [Fam.B:II.2(P3)] |
103541 | M | 215155![]() |
-,- | Mexican | Eosinophilia,Leukocytosis | ARPC1B deficiency | PMID:36708766 [Fam.B:II.1(P4)] |
103542 | M | 215156![]() |
-,- | Mexican | Eosinophilia,Leukocytosis | ARPC1B deficiency | PMID:36708766 [Fam.C:II.3(P5)] |
103556 | F | 215158![]() |
- | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J002:III.1(Daughter)]; PMID:21288777 [Fam.2:III.1(Daughter)] |
103560 | M | 215158![]() |
- | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J002:II.2(Proband)]; PMID:21288777 [Fam.2:II.2(Proband)]; PMID:23584561 [T3-2] |
103566 | F | 215160 | - | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J006:Proband]; PMID:28587312 [P14]; PMID:21288777 [F384S]; PMID:23584561 [T2-2] |
103567 | F | 215161![]() |
- | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J007:III.1(Daughter)]; PMID:28587312 [P40]; PMID:21288777 [Fam.3:III.1(Daughter)] |
103569 | F | 215161![]() |
- | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J007:II.1(Proband)]; PMID:21288777 [Fam.3:II.1(Proband)] |
103577 | F | 215163 | - | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J009:Proband]; PMID:21288777 [S611N] |
103584 | F | 215166![]() |
- | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J011:II.2(Proband)]; PMID:21288777 [Fam.4:II.2(Proband)] |
103587 | F | 215166![]() |
- | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J011:II.1(Sister)]; PMID:21288777 [Fam.4:II.1(sister)] |
103600 | M | 215170![]() |
- | Asian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J016:III.1(Son)]; PMID:21288777 [Fam.5:III.1(Son)] |
103604 | M | 215170![]() |
- | Asian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J016:II.2(Proband)]; PMID:21288777 [Fam.5:II.1(Proband)] |
103607 | F | 215171![]() |
- | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J017:II.1(Proband)]; PMID:21288777 [Fam.6:II.1(Proband)] |
103612 | M | 215171![]() |
- | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J017:II.4(Brother2)]; PMID:28587312 [P32]; PMID:21288777 [Fam.6:II.4(brother)] |
103622 | M | 215175![]() |
- | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:II.3(Proband)]; PMID:21288777 [Fam.7:II.3(Proband)] |
103626 | F | 215175![]() |
- | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:II.2(Sister2)]; PMID:21288777 [Fam.7:II.2(sister2)] |
103629 | F | 215175![]() |
- | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:III.2(Niece2)]; PMID:21288777 [Fam.7:III.2(niece)] |
103635 | M | 215177![]() |
- | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J035:I.2(Proband)]; PMID:21288777 [Fam.12:I.1(proband)] |
103640 | M | 215179 | - | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J053:Proband]; PMID:21288777 [P639A] |
103641 | F | 215180 | - | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J054:Proband]; PMID:21288777 [S465A] |
103655 | F | 215184![]() |
- | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J087:II.1(Daughter)]; PMID:21288777 [Fam.9:II.1(Daughter)] |
103657 | M | 215185 | - | European/American | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J088:Proband]; PMID:21288777 [R382L] |
103663 | F | 215187![]() |
- | Latino | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J100:Proband]; PMID:28587312 [P41]; PMID:21288777 [Fam.10:I.2(proband)]; PMID:23584561 [T3-11] |
103716 | M | 215229 | - | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J013:Proband]; PMID:21288777 [F384L] |
103717 | F | 215230 | - | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J015:Proband]; PMID:28587312 [P18]; PMID:21288777 [F621V] |
103723 | M | 215232![]() |
0 | Georgian Jewish | Leukocytosis | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.A:III.1(A-III-1)] |
103788 | M | 215242![]() |
1 | South Korean | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:19348930 [Patient(II.1)] |
104052 | F | 215328![]() |
- | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN110]; GRID:000796 [UPN110(II.1)] |
104053 | M | 215329 | 35 | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:19891924 [Patient] | |
104054 | F | 215330 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN70]; PMID:18835223 [UPN70]; GRID:000796 [UPN70] |
104055 | F | 215331 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN7]; PMID:18835223 [UPN7]; GRID:000796 [UPN7] |
104056 | M | 215332 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN114]; GRID:000796 [UPN114] |
104057 | M | 215333 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN86]; GRID:000796 [UPN86] |
104058 | F | 215334 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN17]; PMID:18835223 [UPN17]; GRID:000796 [UPN17] |
104059 | M | 215335 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN108]; GRID:000796 [UPN108] |
104060 | M | 215336 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN15]; PMID:18835223 [UPN15]; GRID:000796 [UPN15] |
104061 | M | 215337![]() |
- | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN19]; PMID:18835223 [UPN19]; GRID:000796 [UPN19(II.1)] |
104062 | F | 215338 | - | Colombian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN29]; PMID:18835223 [UPN29]; GRID:000796 [UPN29] |
104063 | M | 215339 | - | Colombian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN31]; PMID:18835223 [UPN31]; GRID:000796 [UPN31] |
104065 | M | 215341 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN56]; GRID:000796 [UPN56] |
104066 | M | 215342 | - | Middle Eastern | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN63]; GRID:000796 [UPN63] |
104067 | M | 215343 | - | Middle Eastern | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN73]; GRID:000796 [UPN73] |
104068 | F | 215344 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN126]; GRID:000796 [UPN126] |
104069 | F | 215345 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN128]; GRID:000796 [UPN128] |
104070 | M | 215346 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN129]; GRID:000796 [UPN129] |
104073 | M | 215349 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN135]; GRID:000796 [UPN135] |
104074 | F | 215350 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN79]; PMID:18835223 [UPN79]; GRID:000796 [UPN79] |
104075 | M | 215351 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN98]; GRID:000796 [UPN98] |
104076 | F | 215352 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN25]; GRID:000796 [UPN25] |
104077 | F | 215353 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN37]; GRID:000796 [UPN37] |
104078 | M | 215354 | - | Middle Eastern | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN44]; GRID:000796 [UPN44] |
104079 | F | 215355 | - | Middle Eastern | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN47]; GRID:000796 [UPN47] |
104081 | M | 215357 | - | Middle Eastern | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN72]; GRID:000796 [UPN72] |
104082 | M | 215358 | - | Middle Eastern | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN77]; GRID:000796 [UPN77] |
104083 | M | 215359 | - | Middle Eastern | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN92]; GRID:000796 [UPN92] |
104084 | F | 215360 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN95]; GRID:000796 [UPN95] |
104085 | F | 215361 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN6]; PMID:18835223 [UPN6]; GRID:000796 [UPN6] |
104086 | M | 215362![]() |
- | Middle Eastern | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN60]; GRID:000796 [UPN60(I.1)] |
104087 | M | 215363![]() |
- | Middle Eastern | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN65]; GRID:000796 [UPN65(II.2)] |
104088 | F | 215364 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN118]; GRID:000796 [UPN118] |
104089 | F | 215365 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN130]; GRID:000796 [UPN130] |
104090 | F | 215366 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN26]; GRID:000796 [UPN26] |
104091 | F | 215367![]() |
- | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN2]; PMID:18835223 [UPN2]; GRID:000796 [UPN2(II.4)] |
104093 | M | 215369 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN102]; GRID:000796 [UPN102] |
104095 | F | 215371 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN57]; GRID:000796 [UPN57] |
104096 | M | 215372 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN5]; PMID:18835223 [UPN5]; GRID:000796 [UPN5] |
104097 | M | 215373 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN71]; PMID:18835223 [UPN71]; GRID:000796 [UPN71] |
104098 | F | 215374 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN16]; PMID:18835223 [UPN16]; GRID:000796 [UPN16] |
104099 | M | 215375 | - | Colombian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN32]; PMID:18835223 [UPN32]; GRID:000796 [UPN32] |
104100 | M | 215376 | - | Colombian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN33]; PMID:18835223 [UPN33]; GRID:000796 [UPN33] |
104101 | F | 215377 | - | Middle Eastern | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN42]; GRID:000796 [UPN42] |
104103 | F | 215379 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN66]; GRID:000796 [UPN66] |
104104 | M | 215380 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN67]; GRID:000796 [UPN67] |
104105 | M | 215381![]() |
- | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN106]; GRID:000796 [Fam.UPN106:II.1] |
104107 | M | 215383 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN125]; GRID:000796 [UPN125] |
104108 | M | 215384 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN104]; GRID:000796 [UPN104] |
104109 | M | 215385 | - | North American | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN49]; GRID:000796 [UPN49] |
104110 | F | 215386 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN109]; GRID:000796 [UPN109] |
104111 | M | 215387 | - | Latino | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN27]; GRID:000796 [UPN27] |
104112 | F | 215388 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN103]; GRID:000796 [UPN103] |
104113 | M | 215389 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN18]; PMID:18835223 [UPN18]; GRID:000796 [UPN18] |
104114 | M | 215390 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN116]; GRID:000796 [UPN116] |
104115 | M | 215391 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN96]; GRID:000796 [UPN96] |
104148 | M | 215392![]() |
- | Syrian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.A:III.5(P1)] |
104158 | M | 215393![]() |
- | Australian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.B:II.2(P2)] |
104165 | M | 215394![]() |
- | Indian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.C:II.4(P3)] |
104171 | M | 215395![]() |
- | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.D:III.1(P5)] | |
104174 | M | 215395![]() |
- | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.D:II.1(P4)] | |
104184 | M | 215398![]() |
- | Turkish | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.G:II.4(P10)] |
104190 | F | 215399 | - | Latino | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN30] |
104191 | F | 215400 | - | Middle Eastern | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN136] |
104192 | F | 215401 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN143] |
104193 | M | 215402 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN147] |
104194 | M | 215403 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN151] |
104195 | M | 215404 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN152] |
104196 | M | 215405![]() |
- | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN153(I.1)] |
104200 | M | 215407 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN157] |
104201 | F | 215408 | - | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN158] |
104203 | F | 215410![]() |
- | European | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN160(II.2)] |
104237 | M | 215421![]() |
1 | European/American | Leukocytosis | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [ref.8]; PMID:36932076 [P1(II.3)]; GRID:000818 [Patient]; GRID:000819 [pt.1] |
104252 | F | 215428 | - | North American | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P17]; PMID:21288777 [S668F] |
104274 | F | 215445![]() |
27 | Dutch | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:19878510 [Fam.1:III.1(V1)]; PMID:12572706 [Fam.1:III.2(III.1)] |
104285 | M | 215445![]() |
30 | Dutch | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:19878510 [Fam.1:III.2(V2)]; PMID:12572706 [Fam.1:III.3(III.2)] |
104286 | F | 215445![]() |
38 | Dutch | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:19878510 [Fam.1:III.3(V3)]; PMID:12572706 [Fam.1:III.4(III.3)] |
104296 | M | 215449![]() |
- | Chinese (China) | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:21107604 [Case(II.1)] |
104300 | F | 215450![]() |
- | Greek | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:20149460 [Patient] |
104336 | F | 215475 | - | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [N472D]; PMID:23584561 [T2-9] | |
104340 | M | 215479 | - | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [V637M]; PMID:23584561 [T2-15] | |
104354 | F | 215493 | 5 | Caucasian | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [Co1] |
104355 | M | 215494 | 0 | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H8]; PMID:22126402 [case] | |
104379 | M | 215187![]() |
- | Latino | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [Fam.10:II.1(son)] |
104383 | M | 215517![]() |
- | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [Fam.13:II.1(proband)] | |
104385 | F | 215517![]() |
- | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [Fam.13:I.2(mother)] | |
104389 | M | 215519![]() |
- | Algerian | Eosinophilia | Hyper-IgE recurrent infection syndrome 3 | PMID:37080116 [P20(II.1)] |
104392 | F | 215520![]() |
- | French | Leukocytosis | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [Patient] |
104395 | M | 215521![]() |
- | British | Leukocytosis | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [ref.9]; PMID:36932076 [P2(II.1)]; GRID:000819 [pt.2] |
104398 | M | 215522![]() |
- | Czech | Leukocytosis | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36932076 [P3(II.1)] |
104403 | M | 215524![]() |
2,2 | Asian | Eosinophilia,Leukocytosis | Early-onset atopic inflammation | PMID:36216080 [Index(III.1)] |
104406 | M | 215524![]() |
- | Asian | Eosinophilia | Early-onset atopic inflammation | PMID:36216080 [Fam.Index:II.1(father)] |
104409 | F | 215524![]() |
1,1 | Asian | Eosinophilia,Leukocytosis | Early-onset atopic inflammation | PMID:36216080 [Fam.Index:III.3(sister2)] |
104410 | M | 215525![]() |
1 | Japanese | Eosinophilia | Early-onset atopic inflammation | PMID:36538978 [Patient(II.2)] |
104414 | M | 215526![]() |
- | Turkish | Eosinophilia | Early-onset atopic inflammation | PMID:36758835 [Patient(V.3)] |
104438 | F | 215527![]() |
- | Middle Eastern | Eosinophilia | Early-onset atopic inflammation | PMID:36884218 [Fam.A:II.1(P1)] |
104444 | F | 215528![]() |
- | Spanish | Eosinophilia | Early-onset atopic inflammation | PMID:36884218 [Fam.B:II.2(P2)] |
104449 | M | 215529![]() |
- | Middle Eastern | Eosinophilia | Early-onset atopic inflammation | PMID:36884218 [Fam.C:II.1(P4)] |
104450 | F | 215529![]() |
- | Middle Eastern | Eosinophilia | Early-onset atopic inflammation | PMID:36884218 [Fam.C:I.1(P3)] |
104453 | F | 215530![]() |
- | European | Eosinophilia | Early-onset atopic inflammation | PMID:36884218 [Fam.D:II.1(P5)] |
104458 | M | 215531![]() |
- | East Asian | Eosinophilia | Early-onset atopic inflammation | PMID:36884218 [Fam.E:II.1(P6)] |
104461 | M | 215532![]() |
- | European | Eosinophilia | Early-onset atopic inflammation | PMID:36884218 [Fam.F:II.1(P8)]; PMID:37316763 [Patient(II.1)] |
104462 | F | 215532![]() |
- | European | Eosinophilia | Early-onset atopic inflammation | PMID:36884218 [Fam.F:I.1(P7)]; PMID:37316763 [Fam.Patient:I.2(mother)] |
104465 | M | 215533![]() |
- | Eosinophilia | Early-onset atopic inflammation | PMID:36884218 [Fam.G:II.1(P10)] | |
104473 | M | 215534![]() |
8 | South Asian | Eosinophilia | Early-onset atopic inflammation | PMID:36884218 [Fam.H:II.1(P11)] |
104477 | M | 215535![]() |
- | SouthEast Asian | Eosinophilia | Early-onset atopic inflammation | PMID:36884218 [Fam.I:II.2(P12)] |
104481 | M | 215536![]() |
- | Caucasian | Eosinophilia | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.2(P14)] |
104488 | F | 215536![]() |
- | Caucasian | Eosinophilia | Early-onset atopic inflammation | PMID:36884218 [Fam.J:III.2(P13)] |
104491 | M | 215536![]() |
- | Caucasian | Eosinophilia | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.3(P15)] |
104492 | F | 215536![]() |
- | Caucasian | Eosinophilia | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.4(P16)] |
104554 | M | 215551![]() |
0 | Pakistani | Leukocytosis | 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)] |
104568 | F | 215551![]() |
0 | Pakistani | Leukocytosis | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27523608 [Fam.1:IV.3(IV:3)]; PMID:32231246 [IV:3(IV.3)]; PMID:27559085 [Fam.1:IV.1(P4)]; PMID:38914362 [Fam.A:V.6(027)] |
104570 | F | 215551![]() |
0 | Pakistani | Leukocytosis | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27523608 [Fam.1:IV.4(IV:4)]; PMID:27559085 [Fam.1:IV.3(NA)]; PMID:38914362 [Fam.A:V.7(028)] |
104575 | F | 215552![]() |
- | Turkish | Leukocytosis | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27559085 [Fam.2:II.1(P2)]; PMID:35587511 [Fam.I:II.2(4)]; PMID:34797715 [P2]; PMID:38914362 [Fam.B:II.1(035)] |
104580 | F | 215553![]() |
- | Turkish | Leukocytosis | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27559085 [Fam.3:II.1(P3)]; PMID:35587511 [Fam.H:II.1(3)]; PMID:34797715 [P3]; PMID:38914362 [Fam.C:II.1(039)] |
104583 | F | 215554![]() |
1 | Arab | Leukocytosis | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:30804083 [Patient(III.2)]; PMID:35587511 [Fam.K:II.2(4)]; PMID:38914362 [Fam.D:IV.2(049)] |
104592 | F | 215555![]() |
0 | Iranian | Leukocytosis | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:30796585 [Patient(V.3)]; PMID:35587511 [Fam.J:II.3(5)]; PMID:38914362 [Fam.E:V.3(065)] |
104607 | M | 215556![]() |
- | Leukocytosis | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.A:II.3(P1)] | |
104612 | M | 215557![]() |
7 | Greek | Leukocytosis | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:35170849 [Patient(II.2)]; PMID:38914362 [Fam.F:II.2(069)] |
104619 | M | 215558![]() |
19 | Dutch | Leukocytosis | Immunodeficiency 107 | PMID:35587511 [Fam.A:II.3(5)]; PMID:38914362 [Fam.G:II.3(075)] |
104630 | M | 215560![]() |
- | Leukocytosis | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.C:II.2(P3)] | |
104671 | F | 215568![]() |
-,- | Lebanese | Leukocytosis,Lymphocytosis | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.1:II.1(P1)] |
104678 | F | 215569![]() |
-,0 | Iranian | Leukocytosis,Lymphocytosis | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.2:II.2(P2)] |
104715 | M | 215572![]() |
3 | French | Eosinophilia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [V-1(V.1)] |
104733 | F | 215572![]() |
- | French | Eosinophilia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:II.16] |
104741 | M | 215572![]() |
- | French | Eosinophilia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:III.6] |
104748 | F | 215572![]() |
- | French | Eosinophilia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:III.13] |
104775 | F | 215572![]() |
- | French | Eosinophilia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.9] |
104782 | M | 215572![]() |
- | French | Eosinophilia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:V.2] |
105013 | M | 215623![]() |
37 | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:29803798 [Patient(II.2)] | |
105019 | M | 215624![]() |
- | French | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [P1(III.4)] |
105023 | M | 215624![]() |
- | French | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:II.2(P2)] |
105069 | M | 215624![]() |
- | French | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:IV.1(P5)] |
105088 | M | 215638 | 24 | Japanese | Leukocytosis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:26644313 [II.3(II.3)]; PMID:30250467 [M.II.3]; PMID:29729943 [Fam.M:II.3(M.II.3 (37))]; PMID:27418640 [P21(II.3)]; PMID:35087518 [11.1] |
105149 | M | 215654![]() |
21 | Chinese (China) | Leukocytosis | Immunodeficiency, common variable, 14 | PMID:37350971 [Patient(II.1)]; PMID:37876937 [Fam.E:II.1(E.1)] |
105162 | M | 215658![]() |
- | Australian | Eosinophilia | Autoinflammation, panniculitis, and dermatosis syndrome 2 | PMID:38914362 [Fam.N:II.1(110)]; PMID:38630025 [Fam.1:II.1(Patient 1)] |
105197 | M | 215666![]() |
25 | Finnish | Leukocytosis | 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)] |
105219 | F | 215666![]() |
18 | Finnish | Leukocytosis | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.7(III.7)]; PMID:29403474 [Fam.1 (9):III.7(F1.III-7)]; PMID:28115215 [Fam.1:III.7(F1.III-7)]; PMID:150198 [Fam.AQ:III.7(181)]; PMID:36356849 [Fam.6:III.7(F6:III:7)]; PMID:36105815 [Fam.H67R:III.7(H67R/6)] |
105220 | F | 215666![]() |
13 | Finnish | Leukocytosis | 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)] |
105232 | M | 215672![]() |
-,48 | Finnish | Leukocytosis,Lymphocytosis | NFKB1 insufficiency | PMID:32278790 [Fam.F3:II.1(II.1)]; PMID:29403474 [Fam.3 (9):II.1(F3.II-1)]; PMID:28115215 [Fam.3:II.1(F3.II-1)]; PMID:150198 [Fam.AS:II.1(196)]; PMID:36356849 [Fam.3:II.1(F3:II:1)]; PMID:36892687 [II:1(II.1)]; PMID:38593810 [Fam.1:II.1(F1.II-1)] |
105238 | M | 215672![]() |
46 | Finnish | Leukocytosis | NFKB1 insufficiency | PMID:32278790 [Fam.F3:II.5(II.5)]; PMID:29403474 [Fam.3 (9):II.5(F3.II-5)]; PMID:28115215 [Fam.3:II.5(F3.II-5)]; PMID:150198 [Fam.AS:II.9(204)]; PMID:36356849 [Fam.3:II.9(F3:II:9)]; PMID:36892687 [II:5(II.5)]; PMID:38593810 [Fam.1:II.9(F1.II-5)] |
105249 | M | 215676 | 3 | Turkish | Lymphocytosis | Immunodeficiency, common variable, 8 | PMID:28956255 [Fam.P2:II.2] |
105276 | F | 215684![]() |
1 | Saudi | Leukocytosis | Autoinflammation, panniculitis, and dermatosis syndrome 2 | PMID:38914362 [Fam.O:II.1(113)]; PMID:38630025 [Fam.2:II.1(Patient 2)] |
105363 | F | 215722 | 15 | Afro-American | Eosinophilia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)] |
105412 | F | 215762![]() |
23 | Caucasian | Leukocytosis | NFKB1 insufficiency | PMID:32278790 [Fam.BB:I.1(I.1)]; PMID:30063981 [Fam.1:II.2(II.2)]; PMID:150198 [Fam.BM:II.3(300)] |
105421 | F | 215762![]() |
6 | Caucasian | Leukocytosis | NFKB1 insufficiency | PMID:32278790 [Fam.BB:II.1(II.1)]; PMID:30063981 [Fam.1:III.1(III.1)]; PMID:150198 [Fam.BM:III.1(301)] |
105743 | F | 215848![]() |
0 | Caucasian | Leukocytosis | NFKB1 insufficiency | PMID:32278790 [AE.I.1]; PMID:150198 [Fam.CM:II.2(432)]; PMID:38593810 [Fam.4:II.2(F4.II-2)] |
105799 | M | 215881![]() |
0 | Pakistani | Eosinophilia | Combined immunodeficiency 41 | PMID:32980423 [Fam.1:V.2(1.V.2)]; PMID:150198 [Fam.DS:V.2(506)] |
105859 | F | 215894![]() |
46 | British | Lymphocytosis | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:150198 [Fam.EA:I.2(551)]; PMID:150198 [Fam.EA:I.2(551)]; PMID:34922003 [Fam.A:I.2(A1)]; PMID:34922003 [Fam.A:I.2(A1)] |
105898 | F | 215901![]() |
24 | Leukocytosis | NFKB1 insufficiency | PMID:150198 [Fam.DY:II.1(544)]; PMID:34825039 [Fam.1:II.1(index)] | |
105911 | F | 215906![]() |
- | French | Eosinophilia | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.A:III.1(P2)] |
105921 | F | 215908![]() |
- | Moroccan | Eosinophilia | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:II.2(P5)] |
105943 | M | 215912![]() |
- | Colombian/Swiss | Eosinophilia | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.C:II.1(P8)] |
106178 | M | 215974![]() |
- | Finnish | Leukocytosis | NFKB1 insufficiency | PMID:150198 [Fam.FL:III.2(672)]; PMID:36356849 [Fam.1:III.2(F1:III:2)]; PMID:38593810 [Fam.2:II.2(F2.II-1)] |
106198 | M | 215974![]() |
- | Finnish | Leukocytosis | NFKB1 insufficiency | PMID:150198 [Fam.FL:IV.3(683)]; PMID:36356849 [Fam.1:IV.3(F1:IV:3)] |
106209 | F | 215975![]() |
-,- | Finnish | Leukocytosis,Lymphocytosis | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.3(694)]; PMID:36356849 [Fam.2:III.3(F2:III:3)] |
106217 | M | 215975![]() |
- | Finnish | Leukocytosis | NFKB1 insufficiency | PMID:150198 [Fam.FM:IV.3(702)]; PMID:36356849 [Fam.2:IV.3(F2:IV:3)] |
106371 | M | 216004 | 19 | Leukocytosis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29375547 [Fam.A:II.1(A.II.1)]; PMID:31396201 [P2(II.1)] | |
106393 | F | 216006![]() |
20 | German | Leukocytosis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [III.3(III.3)] |
106402 | F | 216006![]() |
22 | German | Eosinophilia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [Fam.III.3:III.2] |
106413 | M | 216011![]() |
- | Indian | Eosinophilia | Hyper-IgE recurrent infection syndrome 4A | PMID:38578568 [Fam.1:II.2(index)] |
106422 | F | 216014 | - | Leukocytosis | NFKB1 insufficiency | PMID:150198 [Fam.DX:541]; PMID:34447408 [1(I.1)] | |
106448 | F | 216016![]() |
0 | Japanese | Leukocytosis | Autoinflammation, panniculitis, and dermatosis syndrome 2 | PMID:38914362 [Fam.R:II.1(130)]; PMID:38652464 [Fam.1:II.1(Patient)] |
106600 | M | 216087![]() |
- | French | Eosinophilia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.1:II.2(P3)] |
106604 | M | 216088![]() |
- | Afro-American | Eosinophilia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.2:II.4(P7)] |
106618 | F | 216090![]() |
- | Ashkenazi Jewish | Eosinophilia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.3:II.1(P9)] |
106622 | M | 216091![]() |
- | Ashkenazi Jewish | Eosinophilia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.4:II.1(P11)] |
106630 | M | 216093![]() |
- | Ashkenazi Jewish | Eosinophilia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.6:II.1(P16)] |
106761 | F | 216124![]() |
1 | Caucasian | Eosinophilia | T-negative/B-positive SCID type 1 | PMID:28916186 [P5]; PMID:31440277 [pt(II.1)] |
106819 | M | 216163![]() |
- | Chinese (China) | Lymphocytosis | Immunodeficiency, common variable, 1 | PMID:36571238 [Fam.2:II.2(II:2[P3])] |
106953 | M | 216195 | 7 | Leukocytosis | NFKB1 insufficiency | PMID:150198 [Fam.GA:793]; PMID:38901617 [Fam.1:I.1(P1)] | |
107103 | M | 216335![]() |
- | Chinese (China) | Leukocytosis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt1(II.2)] |
107118 | F | 216340![]() |
- | Iranian | Leukocytosis | Autoinflammation with episodic fever and immune dysregulation | PMID:38609546 [P2(II.2)] |
107151 | M | 216364![]() |
6 | Turkish | Eosinophilia | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.A:II.1(Patient 1)] |
107247 | F | 216396 | - | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | GRID:001501 [case] | |
107248 | F | 216397 | 17 | Kuwaiti | Eosinophilia | Hyper-IgE recurrent infection syndrome 1 | GRID:001502 [Patient] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).