Mucocutaneous candidiasis
Basic details
Preferred term: Mucocutaneous candidiasis
Alt. terms: Candida infection of mucocutaneous surfaces | Disseminated candidiasis
GenIA ID: 153
Last updated on: 2025-02-05 10:22:35
Cross ref. with other ontologies
NCIT: C35576
MESH: -
EFO: -
OAE:0008966
SNOMEDCT: 29147005
ICD10: -
Description
A fungal infection of the skin, nails, oral or vaginal mucosal sites caused by species of the genus Candida. It manifests with white discoloration of the tongue and swelling, redness, and tenderness of the nails. Candida albicans is the most common species.
Hierarchical classification
PARENT terms
TERM
Mucocutaneous candidiasis
Reported patients added to GenIA DB
| SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
|---|---|---|---|---|---|---|---|
| 101020 | F | 210008 |
18 | German | Vulvovaginal candidiasis | 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] |
| 101036 | F | 210182 |
- | Caucasian | Oral candidiasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.2(B.II.1)]; PMID:29729943 [Fam.B:II.2(B.II.1 (13))]; PMID:34975878 [Fam.F014:III.2(P014)]; PMID:27418640 [P12(5)]; PMID:37740092 [P01] |
| 101056 | F | 210119 | - | Esophageal candidiasis | PMID:34390440 [NEG001] | ||
| 101058 | M | 210120 | - | Esophageal candidiasis | Immunodeficiency 31C | PMID:34390440 [CMC21] | |
| 101063 | M | 210118 | -,- | German | Mucocutaneous candidiasis,Oral candidiasis | PMID:34975878 [Fam.F411:P411]; PMID:34390440 [CMC01] | |
| 101066 | F | 211365 | - | Chronic mucocutaneous candidiasis | Immunodeficiency 31C | PMID:34390440 [CMC23] | |
| 101076 | F | 210226 | - | German | Vulvovaginal candidiasis | PMID:34975878 [Fam.F041:P041] | |
| 101079 | M | 211310 | - | Mucocutaneous candidiasis | PMID:34975878 [Fam.F045:P045]; PMID:34390440 [NEG005] | ||
| 101081 | F | 211315 | 45 | Esophageal candidiasis | PMID:34975878 [Fam.F047:P047] | ||
| 101124 | F | 210216 | 63 | German | Esophageal candidiasis | PMID:34975878 [Fam.F075:P075] | |
| 101127 | F | 210318 | 50 | German | Esophageal candidiasis | PMID:34975878 [Fam.F077:P077] | |
| 101129 | F | 210906 | 33 | German | Mucocutaneous candidiasis | PMID:34975878 [Fam.F078:P078] | |
| 101131 | F | 210337 | 54 | German | Vulvovaginal candidiasis | PMID:34975878 [Fam.F080:P080] | |
| 101132 | M | 210304 | 30 | German | Esophageal candidiasis | PMID:34975878 [Fam.F081:P081] | |
| 101168 | M | 212349 | - | Oral candidiasis | PMID:34390440 [NEG015] | ||
| 101188 | M | 212373 | - | Esophageal candidiasis | PMID:34390440 [NEG019] | ||
| 101197 | F | 214344 | - | Egyptian | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES18] |
| 101375 | F | 212162 | 13 | Iranian | Mucocutaneous candidiasis | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.1:II.1(P1)]; PMID:29528757 [Case 3]; PMID:26707784 [Fam.F:IV.1(P30)]; PMID:25011360 [Case 2]; PMID:26993986 [Fam.F7:II.1(1)]; PMID:28512785 [P8] |
| 101401 | F | 210205 |
- | Caucasian | Mucocutaneous candidiasis | 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)] |
| 101416 | M | 212169 | - | Turkish | Esophageal candidiasis | Immunodeficiency, common variable, 8 | PMID:27146671 [Patient(II.1)] |
| 101473 | F | 212398 | 1 | Spanish | Oral candidiasis | Immunodeficiency, common variable, 8 | PMID:30386343 [Patient(II.1)] |
| 101477 | M | 212400 | - | Iranian | Candida Onychomycosis | Netherton syndrome | PMID:34390440 [HIES31] |
| 101490 | M | 211009 | 12 | Esophageal candidiasis | PMID:34975878 [Fam.F164:P164] | ||
| 101566 | F | 210575 |
- | German | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN94]; PMID:18835223 [UPN94]; GRID:000796 [UPN94(II.1)] |
| 101570 | M | 212597 | - | German | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES45] |
| 101576 | M | 212599 | - | Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES47] | |
| 101577 | M | 212600 | - | Esophageal candidiasis | Immunodeficiency 31C | PMID:34390440 [CMC12] | |
| 101578 | M | 210205 |
- | German | Mucocutaneous candidiasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.14(A.II.8)]; PMID:29729943 [Fam.A:II.14(A.II.8 (5))]; PMID:27418640 [P8(5)] |
| 101582 | F | 212602 | - | Candida Onychomycosis | PMID:34390440 [NEG025] | ||
| 101617 | M | 210994 | 54 | Esophageal candidiasis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F212:P212] | |
| 101687 | F | 212635 |
- | Nepalese | Oral candidiasis | ARPC1B deficiency | PMID:30771411 [P12(II.1)] |
| 101792 | M | 210991 | - | Caucasian | Mucocutaneous candidiasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.11(NN.II.9(92))] |
| 101797 | M | 211108 | -,- | Caucasian | Mucocutaneous candidiasis,Oral candidiasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.QQ:II.1(97)]; PMID:34975878 [Fam.F258:P258] |
| 101812 | F | 211521 | - | Vulvovaginal candidiasis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F271:P271] | |
| 101820 | F | 210123 | - | Chronic mucocutaneous candidiasis | PMID:34390440 [NEG026] | ||
| 101821 | F | 210122 | - | Mucocutaneous candidiasis | PMID:34390440 [NEG027] | ||
| 101831 | M | 210126 | - | Israeli | Esophageal candidiasis | Immunodeficiency 31C | PMID:34390440 [CMC18] |
| 101834 | M | 212351 | - | German | Esophageal candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES41] |
| 101835 | F | 212354 | - | Esophageal candidiasis | IL-17RA deficiency | Immunodeficiency 31C | PMID:34390440 [CMC07]; PMID:34390440 [CMC07] | |
| 101844 | F | 210124 | - | Mucocutaneous candidiasis | PMID:34390440 [NEG030] | ||
| 101845 | M | 210125 | - | German | Mucocutaneous candidiasis | PMID:34390440 [NEG031] | |
| 101850 | M | 212198 | - | Candida Onychomycosis | PMID:34390440 [NEG032] | ||
| 101858 | U | 210051 | - | Mucocutaneous candidiasis | Immunodeficiency 31C | PMID:34390440 [CMC14] | |
| 101859 | U | 210052 | - | Mucocutaneous candidiasis | Immunodeficiency 31C | PMID:34390440 [CMC15] | |
| 101860 | U | 210053 | - | Chronic mucocutaneous candidiasis | Immunodeficiency 31C | PMID:34390440 [CMC16] | |
| 101861 | U | 210054 | - | Mucocutaneous candidiasis | Immunodeficiency 31C | PMID:34390440 [CMC17] | |
| 101862 | F | 210064 | -,- | Mucocutaneous candidiasis,Oral candidiasis | PMID:34390440 [NEG035] | ||
| 101863 | M | 210066 | -,- | Mucocutaneous candidiasis,Oral candidiasis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34390440 [NEG036] | |
| 101864 | F | 210067 | - | Chronic mucocutaneous candidiasis | PMID:34390440 [NEG037] | ||
| 101865 | F | 210068 | - | Mucocutaneous candidiasis | PMID:34390440 [NEG038] | ||
| 101867 | M | 210072 | - | Mucocutaneous candidiasis | PMID:34390440 [NEG040] | ||
| 101868 | M | 210073 | - | Mucocutaneous candidiasis | PMID:34390440 [NEG041] | ||
| 101869 | M | 210076 | - | Esophageal candidiasis | Immunodeficiency 31C | PMID:34390440 [CMC08] | |
| 101870 | F | 210077 | - | Vulvovaginal candidiasis | PMID:34390440 [NEG042] | ||
| 101871 | F | 210078 | - | Turkish | Mucocutaneous candidiasis | Immunodeficiency 103, susceptibility to fungal infection | PMID:34390440 [CMC03] |
| 101872 | M | 210081 | -,- | German | Mucocutaneous candidiasis,Oral candidiasis | PMID:34390440 [NEG043] | |
| 101873 | F | 210082 | - | Mucocutaneous candidiasis | PMID:34390440 [NEG044] | ||
| 101874 | F | 210085 | - | Chronic mucocutaneous candidiasis | PMID:34390440 [NEG045] | ||
| 101875 | F | 210086 | -,- | Candida Onychomycosis,Mucocutaneous candidiasis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34390440 [CMC19] | |
| 101876 | M | 210088 | - | Turkish | Mucocutaneous candidiasis | Immunodeficiency 103, susceptibility to fungal infection | PMID:34390440 [CMC02] |
| 101884 | M | 212237 |
- | Sudanese | Oral candidiasis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.3(A.II.3)] |
| 101895 | M | 212286 | - | Candida Onychomycosis | PMID:34390440 [NEG050] | ||
| 101899 | M | 211769 | - | Mucocutaneous candidiasis | PMID:34975878 [Fam.F329:P329] | ||
| 101907 | F | 212325 | - | Oral candidiasis | PMID:34390440 [NEG056] | ||
| 101915 | F | 211935 | - | Vulvovaginal candidiasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F341:P341] | |
| 101916 | F | 210075 | - | Oral candidiasis | PMID:34390440 [NEG058] | ||
| 101917 | F | 210079 | - | Vulvovaginal candidiasis | PMID:34390440 [NEG059] | ||
| 101918 | F | 210083 | - | Chronic mucocutaneous candidiasis | PMID:34390440 [NEG060] | ||
| 101919 | M | 210084 | - | Chronic mucocutaneous candidiasis | Immunodeficiency 31C | PMID:34390440 [CMC09] | |
| 101920 | M | 210089 | - | Turkish | Oral candidiasis | IL-17RA deficiency | PMID:34390440 [CMC06] |
| 101921 | M | 210091 | - | Turkish | Mucocutaneous candidiasis | Immunodeficiency 103, susceptibility to fungal infection | PMID:34390440 [CMC04] |
| 101923 | F | 210092 | - | Mucocutaneous candidiasis | PMID:34390440 [NEG061] | ||
| 101924 | M | 210094 | - | German | Esophageal candidiasis | Immunodeficiency 31C | PMID:34390440 [CMC05] |
| 101926 | M | 210096 | - | Esophageal candidiasis | PMID:34390440 [NEG062] | ||
| 101927 | M | 210097 | - | Esophageal candidiasis | Immunodeficiency 31C | PMID:34390440 [CMC10] | |
| 101928 | M | 210098 | - | Chronic mucocutaneous candidiasis | PMID:34390440 [NEG063] | ||
| 101929 | F | 210099 | - | Chronic mucocutaneous candidiasis | PMID:34390440 [NEG064] | ||
| 101930 | M | 210100 | -,1 | Algerian | Mucocutaneous candidiasis,Oral candidiasis | Immunodeficiency 31C | PMID:34390440 [CMC13] |
| 101931 | F | 210101 | - | Chronic mucocutaneous candidiasis | PMID:34390440 [NEG065] | ||
| 101932 | F | 210102 | - | Chronic mucocutaneous candidiasis | Immunodeficiency 31C | PMID:34390440 [CMC11] | |
| 101933 | M | 210103 | - | Mucocutaneous candidiasis | PMID:34390440 [NEG066] | ||
| 101934 | F | 210104 | - | Chronic mucocutaneous candidiasis | PMID:34390440 [NEG067] | ||
| 101935 | F | 210105 | - | Chronic mucocutaneous candidiasis | PMID:34390440 [NEG068] | ||
| 101936 | F | 210106 | - | Peruvian | Chronic mucocutaneous candidiasis | PMID:34390440 [NEG069] | |
| 101937 | M | 210107 | - | British | Chronic mucocutaneous candidiasis | PMID:34390440 [NEG070] | |
| 101938 | F | 210108 | - | British | Chronic mucocutaneous candidiasis | PMID:34390440 [NEG071] | |
| 101939 | M | 210109 | - | Mucocutaneous candidiasis | PMID:34390440 [NEG072] | ||
| 101940 | F | 210110 | - | Chronic mucocutaneous candidiasis | Mendelian Susceptibility to mycobacterial disease 1 | PMID:34390440 [CMC22] | |
| 101941 | M | 210111 | - | Chronic mucocutaneous candidiasis | PMID:34390440 [NEG073] | ||
| 101942 | F | 210112 | - | Candida Onychomycosis | PMID:34390440 [NEG074] | ||
| 101943 | F | 210113 | - | Mucocutaneous candidiasis | PMID:34390440 [NEG075] | ||
| 101958 | F | 212666 | - | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES40] | |
| 101961 | M | 212237 |
- | Sudanese | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.1(A.II.1)] |
| 101962 | M | 212237 |
-,- | Sudanese | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.2(A.II.2)] |
| 101963 | F | 213965 | - | Candida Onychomycosis | PMID:34390440 [NEG078] | ||
| 101964 | F | 213976 | - | Candida Onychomycosis | PMID:34390440 [NEG079] | ||
| 101970 | F | 214044 | - | Vulvovaginal candidiasis | PMID:34390440 [NEG085] | ||
| 101975 | F | 214053 |
- | Turkish | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.2(D.II.1)]; PMID:34390440 [HIES53]; PMID:31980991 [Case] |
| 101980 | F | 214063 | - | Oral candidiasis | PMID:34390440 [NEG088] | ||
| 101984 | F | 214091 | - | Oral candidiasis | PMID:34390440 [NEG091] | ||
| 101988 | M | 214120 | - | Oral candidiasis | PMID:34390440 [NEG095] | ||
| 101989 | F | 214121 | - | Oral candidiasis | PMID:34390440 [NEG096] | ||
| 101990 | F | 214122 | - | Oral candidiasis | PMID:34390440 [NEG097] | ||
| 101991 | M | 214123 | - | Turkish | Mucocutaneous candidiasis | Immunodeficiency 103, susceptibility to fungal infection | PMID:34390440 [HIES03] |
| 101993 | F | 214132 | - | Candida Onychomycosis | PMID:34390440 [NEG099] | ||
| 101999 | F | 214143 | - | Moroccan | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES38] |
| 102006 | F | 214161 | - | Vulvovaginal candidiasis | PMID:34390440 [NEG109] | ||
| 102014 | F | 214191 | - | Oral candidiasis | PMID:34390440 [NEG116] | ||
| 102027 | M | 214215 | - | Candida Onychomycosis | PMID:34390440 [NEG128] | ||
| 102029 | M | 214219 | - | Candida Onychomycosis | PMID:34390440 [NEG130] | ||
| 102033 | M | 214226 | - | Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES33] | |
| 102035 | M | 214232 | - | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES34] | |
| 102058 | M | 214276 | -,- | Iranian | Mucocutaneous candidiasis,Oral candidiasis | Immunodeficiency 103, susceptibility to fungal infection | PMID:34390440 [HIES04] |
| 102074 | F | 214294 | - | Egyptian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES27]; PMID:32738296 [P2] |
| 102082 | U | 214302 | - | Egyptian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES11] |
| 102090 | M | 214309 | - | Candida Onychomycosis | Immunodeficiency 58 | PMID:34390440 [HIES29] | |
| 102094 | F | 214313 | - | Esophageal candidiasis | PMID:34390440 [NEG175] | ||
| 102111 | F | 214335 | - | Mucocutaneous candidiasis | PMID:34390440 [NEG190] | ||
| 102117 | F | 214341 | - | Egyptian | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES20] |
| 102120 | M | 214344 | - | Egyptian | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES21] |
| 102124 | F | 214351 |
- | Sudanese | Oral candidiasis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.5(B.II.4)] |
| 102129 | F | 214351 |
- | Sudanese | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.1(B.II.1)] |
| 102131 | F | 214351 |
- | Sudanese | Oral candidiasis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.7(B.II.6)] |
| 102143 | M | 214416 | - | Slovenian | Chronic mucocutaneous candidiasis | Immunodeficiency, common variable, 8 | PMID:28720148 [Patient] |
| 102181 | F | 214913 | 3 | Mucocutaneous candidiasis | Severe combined immunodeficiency 9A, T-B- | PMID:30877075 [Case 22]; PMID:28864286 [P1]; PMID:28769923 [P34] | |
| 102222 | M | 214917 | 52 | German | Mucocutaneous candidiasis | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
| 102258 | M | 214926 |
0 | Mexican | Oral candidiasis | ARPC1B deficiency | PMID:32683750 [case(II.3)]; PMID:36708766 [Fam.A:II.3(P2)] |
| 102262 | F | 214927 |
1 | Japanese | Oral candidiasis | OAS1 immunodeficiency | PMID:29455859 [Fam.C:II.1]; PMID:34145065 [P5(II.1)]; PMID:29185156 [P2] |
| 102449 | F | 214958 |
- | Mexican/Salvadoran | Chronic mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.E:II.1(P9)] |
| 102654 | F | 214978 |
1 | North American | Oral candidiasis | Immunodeficiency 8 | PMID:19097825 [Patient(II.2)]; PMID:18836449 [Patient(II.2)] |
| 102769 | M | 214985 |
-,- | Moroccan | Esophageal candidiasis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.A:II.2(P2)] |
| 102772 | M | 214985 |
- | Moroccan | Mucocutaneous candidiasis | PMID:29907691 [Fam.A:II.1(P1)] | |
| 102774 | F | 214985 |
-,- | Moroccan | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.A:II.4(P3)] |
| 102775 | F | 214986 |
-,- | Afro-Caribbean | Mucocutaneous candidiasis,Vulvovaginal candidiasis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.B:II.5(P4)] |
| 102782 | F | 214987 |
-,- | Iranian | Mucocutaneous candidiasis,Vulvovaginal candidiasis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.C:II.2(P5)] |
| 102792 | M | 214989 |
-,- | Turkish | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.E:II.1(P7)] |
| 102891 | F | 215006 |
- | Indian | Oral candidiasis | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:28636882 [Patient(II.3)]; PMID:33464451 [P6] |
| 102894 | M | 215006 |
- | Indian | Oral candidiasis | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:28636882 [Fam.Patient:II.2]; PMID:33464451 [P7] |
| 102897 | M | 215007 |
- | Turkish | Oral candidiasis | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:30903456 [P1(II.1)]; PMID:33464451 [P12(II.1)]; PMID:37419334 [P12(27)] |
| 102900 | F | 215007 |
- | Turkish | Oral candidiasis | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:30903456 [Fam.P1:II.2(P2)]; PMID:33464451 [Fam.P12:II.2(P13)]; PMID:37419334 [P13(27)] |
| 102934 | F | 215035 |
- | Caucasian | Mucocutaneous candidiasis | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P23]; PMID:33464451 [P14(III.1)]; PMID:37419334 [P23(22)] |
| 102948 | F | 215047 | - | Italian | Mucocutaneous candidiasis | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P39]; PMID:37419334 [P39(22)] |
| 102993 | F | 215077 |
- | Turkish | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 2] |
| 102996 | M | 215078 |
- | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 3] | |
| 103002 | F | 215080 |
- | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 5] | |
| 103012 | M | 215083 |
- | Turkish | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 7] |
| 103015 | M | 215084 |
- | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 8] | |
| 103018 | M | 215085 |
- | Japanese | Oral candidiasis | Immunodeficiency 35 | PMID:17676033 [Tyk2 Pt]; PMID:17088085 [Patient] |
| 103021 | F | 215086 |
- | Gypsy | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.1:II.2(C1)] |
| 103027 | F | 215087 |
- | Hungarian | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN133]; PMID:18706697 [Fam.2:I.2(N1)] |
| 103031 | M | 215088 | - | Hungarian | Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN134]; PMID:18706697 [Fam.3:K] |
| 103032 | M | 215089 |
- | Hungarian | Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.4:II.1(S1)] |
| 103038 | F | 215091 | - | Lebanese | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.6:F1] |
| 103039 | M | 215092 |
- | Lebanese | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.7:II.1(CA1)] |
| 103043 | F | 215093 | -,- | Polish | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.8:B] |
| 103051 | M | 215095 |
- | Finnish | Oral candidiasis | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.7(P1)] |
| 103556 | F | 215158 |
- | Caucasian | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J002:III.1(Daughter)]; PMID:21288777 [Fam.2:III.1(Daughter)] |
| 103560 | M | 215158 |
- | Caucasian | Candida Onychomycosis | 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 | Candida Onychomycosis | 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 | Vulvovaginal candidiasis | 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 | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J007:II.1(Proband)]; PMID:21288777 [Fam.3:II.1(Proband)] |
| 103577 | F | 215163 | - | Caucasian | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J009:Proband]; PMID:21288777 [S611N] |
| 103584 | F | 215166 |
- | Caucasian | Vulvovaginal candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J011:II.2(Proband)]; PMID:21288777 [Fam.4:II.2(Proband)] |
| 103587 | F | 215166 |
- | Caucasian | Vulvovaginal candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J011:II.1(Sister)]; PMID:21288777 [Fam.4:II.1(sister)] |
| 103591 | F | 215168 |
- | Caucasian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J014:II.1(Proband)]; PMID:28587312 [P34] |
| 103604 | M | 215170 |
- | Asian | Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J016:II.2(Proband)]; PMID:21288777 [Fam.5:II.1(Proband)] |
| 103607 | F | 215171 |
- | Caucasian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J017:II.1(Proband)]; PMID:21288777 [Fam.6:II.1(Proband)] |
| 103612 | M | 215171 |
- | Caucasian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J017:II.4(Brother2)]; PMID:28587312 [P32]; PMID:21288777 [Fam.6:II.4(brother)] |
| 103619 | F | 215174 | - | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J022:Proband]; PMID:28587312 [P9]; PMID:23584561 [T2-1] |
| 103626 | F | 215175 |
- | Caucasian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:II.2(Sister2)]; PMID:21288777 [Fam.7:II.2(sister2)] |
| 103629 | F | 215175 |
- | Caucasian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:III.2(Niece2)]; PMID:21288777 [Fam.7:III.2(niece)] |
| 103633 | F | 215177 |
- | Caucasian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J035:II.1(Daughter)]; PMID:21288777 [Fam.12:II.1(daughter)] |
| 103635 | M | 215177 |
- | Caucasian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J035:I.2(Proband)]; PMID:21288777 [Fam.12:I.1(proband)] |
| 103640 | M | 215179 | - | Caucasian | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J053:Proband]; PMID:21288777 [P639A] |
| 103641 | F | 215180 | - | Caucasian | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J054:Proband]; PMID:21288777 [S465A] |
| 103647 | F | 215182 |
- | Caucasian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:II.1(Daughter)]; PMID:21288777 [Fam.8:II.1(proband)] |
| 103648 | F | 215182 |
- | Caucasian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:I.1(Proband)]; PMID:21288777 [Fam.8:I.2(mother)]; PMID:23584561 [T3-1] |
| 103650 | F | 215182 |
- | Caucasian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:II.2(Daughter2)]; PMID:21288777 [Fam.8:II.2(sister)] |
| 103655 | F | 215184 |
- | Caucasian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J087:II.1(Daughter)]; PMID:21288777 [Fam.9:II.1(Daughter)] |
| 103656 | M | 215184 |
- | Caucasian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J087:I.1(Proband)]; PMID:21288777 [Fam.9:I.1(proband)] |
| 103657 | M | 215185 | - | European/American | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J088:Proband]; PMID:21288777 [R382L] |
| 103663 | F | 215187 |
- | Latino | Mucocutaneous candidiasis | 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] |
| 103667 | M | 215188 |
- | Caucasian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J112:I.1(Proband)]; PMID:21288777 [Fam.11:I.1(proband)]; PMID:23584561 [T3-7] |
| 103668 | M | 215189 |
- | Caucasian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J113:II.1(Proband)]; PMID:28587312 [P53]; PMID:23584561 [T2-13] |
| 103671 | F | 215190 | - | North American | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J121:Proband]; PMID:21288777 [Q644del]; PMID:23584561 [T2/3-8/10] |
| 103676 | F | 215193 | - | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P2] | |
| 103677 | M | 215194 | - | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P3] | |
| 103678 | M | 215195 | - | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P4] | |
| 103679 | M | 215196 |
- | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P5] | |
| 103680 | M | 215197 | - | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P6] | |
| 103681 | F | 215198 |
- | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [Fam.7:II.3(P7.1)]; PMID:17942886 [II-3(II.3)] |
| 103682 | M | 215198 |
- | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [Fam.7:III.3(P7.2)]; PMID:17942886 [Fam.II-3:III.3(III-3)] |
| 103684 | M | 215201 |
- | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P8] | |
| 103685 | M | 215202 |
- | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P9] | |
| 103686 | M | 215203 |
- | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P10] | |
| 103687 | M | 215204 |
- | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P11] | |
| 103688 | M | 215205 | - | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P12] | |
| 103689 | M | 215206 | - | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P13] | |
| 103690 | M | 215207 | - | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P14] | |
| 103691 | M | 215208 | - | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P15] | |
| 103692 | M | 215209 | - | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P16] | |
| 103695 | M | 215212 |
- | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P19] | |
| 103696 | F | 215213 |
- | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P20] | |
| 103697 | M | 215214 |
- | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P21] | |
| 103698 | M | 215215 |
- | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P22] | |
| 103699 | M | 215216 |
- | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P23] | |
| 103700 | F | 215217 | - | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P24] | |
| 103702 | M | 215219 | - | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P26] | |
| 103706 | F | 215223 | - | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P30] | |
| 103707 | M | 215224 |
- | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P31] | |
| 103708 | M | 215225 | - | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P32] | |
| 103709 | M | 215226 | - | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P33] | |
| 103710 | F | 215227 | - | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P34] | |
| 103715 | M | 215228 | - | Caucasian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J012:Proband]; PMID:28587312 [P25] |
| 103716 | M | 215229 | - | Caucasian | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J013:Proband]; PMID:21288777 [F384L] |
| 103717 | F | 215230 | - | Caucasian | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J015:Proband]; PMID:28587312 [P18]; PMID:21288777 [F621V] |
| 103788 | M | 215242 |
- | South Korean | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:19348930 [Patient(II.1)] |
| 103792 | F | 215243 |
- | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.1:III.3(1-2)] |
| 103798 | M | 215243 |
- | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.1:II.4(1-1)] |
| 103802 | F | 215243 |
- | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.1:III.4(1-3)] |
| 103803 | M | 215244 | - | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [2-1] |
| 103804 | M | 215245 |
- | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.3:II.10(3-1)] |
| 103805 | F | 215246 | - | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [4-1] |
| 103806 | M | 215247 | - | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [5-1] |
| 103807 | M | 215248 |
- | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.6:III.1(6-2)] |
| 103808 | F | 215248 |
- | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.6:II.3(6-1)] |
| 103810 | F | 215249 |
- | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.7:III.4(7-3)] |
| 103811 | F | 215249 |
- | North American | Mucocutaneous candidiasis | PMID:20093388 [Fam.7:II.5] | |
| 103812 | M | 215249 |
- | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.7:II.4(7-1)] |
| 103813 | F | 215249 |
- | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.7:III.3(7-2)] |
| 103814 | M | 215250 | - | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [8-1] |
| 103816 | F | 215252 |
- | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.10:II.1(10-2)] |
| 103817 | F | 215252 |
- | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.10:I.1(10-1)] |
| 103914 | F | 215270 | - | French | Chronic mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K1:P1] |
| 103916 | M | 215271 | - | French | Chronic mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K2:P2] |
| 103917 | F | 215272 |
- | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:II.2(P4)] |
| 103918 | M | 215272 |
- | French | Chronic mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:I.1(P3)] |
| 103920 | M | 215272 |
- | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:II.1(P60)] |
| 103922 | F | 215274 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K5:P6] |
| 103923 | M | 215275 |
- | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:II.1(P8)] |
| 103925 | F | 215275 |
- | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:I.2(P7)] |
| 103926 | F | 215276 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K7:P9] |
| 103927 | F | 215277 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K8:P10] |
| 103928 | M | 215278 | - | Algerian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K9:P11] |
| 103929 | M | 215279 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K10:P12] |
| 103930 | F | 215280 | - | Moroccan | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K11:P13] |
| 103931 | M | 215281 |
- | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:II.2(P16)] |
| 103933 | F | 215281 |
- | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:I.2(P14)] |
| 103935 | F | 215282 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K13:P17] |
| 103937 | F | 215284 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K15:P19] |
| 103938 | M | 215285 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K16:P20] |
| 103940 | F | 215287 |
- | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K18:P22] |
| 103944 | M | 215287 |
- | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K18:II.2(P23)] |
| 103945 | M | 215289 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K19:P24] |
| 103946 | F | 215290 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K20:P25] |
| 103948 | F | 215292 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K22:P27] |
| 103949 | M | 215293 |
- | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:II.2(P30)] |
| 103951 | M | 215293 |
- | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:I.2(P28)] |
| 103953 | F | 215294 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K24:P31] |
| 103954 | M | 215295 | - | Algerian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K25:P32] |
| 103956 | M | 215297 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K27:P34] |
| 103958 | M | 215298 |
- | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K28:I.1(P35)] |
| 103961 | F | 215299 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K29:P36] |
| 103962 | F | 215300 |
- | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K30:II.1(P38)] |
| 103963 | M | 215300 |
- | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K30:I.1(P37)] |
| 103965 | F | 215301 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K31:P39] |
| 103966 | F | 215302 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K32:P40] |
| 103967 | M | 215303 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K33:P41] |
| 103971 | F | 215305 |
- | Pakistani | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:I.2(P43)] |
| 103972 | M | 215305 |
- | Pakistani | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.1(P44)] |
| 103973 | M | 215306 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K36:P46] |
| 103974 | M | 215307 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K37:P47] |
| 103977 | F | 215308 |
- | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K38:I.2(P48)] |
| 103978 | M | 215309 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K39:P50] |
| 103979 | M | 215310 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K40:P51] |
| 103980 | F | 215311 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K41:P52] |
| 103981 | M | 215312 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K42:P53] |
| 103982 | F | 215313 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K43:P54] |
| 103983 | M | 215314 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K44:P55] |
| 103985 | M | 215316 | - | Portuguese | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K46:P57] |
| 103986 | M | 215317 | - | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K47:P58] |
| 104001 | F | 215322 |
- | North American | Mucocutaneous candidiasis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P5]; PMID:32392079 [P3]; PMID:30092289 [P15]; PMID:35677041 [Pt3]; PMID:33651637 [Patient 1] |
| 104002 | F | 215323 |
- | Esophageal candidiasis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P6] | |
| 104052 | F | 215328 |
-,- | European | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN110]; GRID:000796 [UPN110(II.1)] |
| 104054 | F | 215330 | -,- | European | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN70]; PMID:18835223 [UPN70]; GRID:000796 [UPN70] |
| 104055 | F | 215331 | -,- | European | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN7]; PMID:18835223 [UPN7]; GRID:000796 [UPN7] |
| 104056 | M | 215332 | -,- | European | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN114]; GRID:000796 [UPN114] |
| 104057 | M | 215333 | -,- | European | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN86]; GRID:000796 [UPN86] |
| 104058 | F | 215334 | -,- | European | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN17]; PMID:18835223 [UPN17]; GRID:000796 [UPN17] |
| 104059 | M | 215335 | - | European | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN108]; GRID:000796 [UPN108] |
| 104060 | M | 215336 | -,- | European | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN15]; PMID:18835223 [UPN15]; GRID:000796 [UPN15] |
| 104061 | M | 215337 |
-,- | European | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN19]; PMID:18835223 [UPN19]; GRID:000796 [UPN19(II.1)] |
| 104062 | F | 215338 | -,- | Colombian | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN29]; PMID:18835223 [UPN29]; GRID:000796 [UPN29] |
| 104063 | M | 215339 | -,- | Colombian | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN31]; PMID:18835223 [UPN31]; GRID:000796 [UPN31] |
| 104064 | M | 215340 | -,- | Middle Eastern | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN43]; GRID:000796 [UPN43] |
| 104066 | M | 215342 | -,- | Middle Eastern | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN63]; GRID:000796 [UPN63] |
| 104068 | F | 215344 | -,- | European | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN126]; GRID:000796 [UPN126] |
| 104069 | F | 215345 | -,- | European | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN128]; GRID:000796 [UPN128] |
| 104070 | M | 215346 | - | European | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN129]; GRID:000796 [UPN129] |
| 104073 | M | 215349 | -,- | European | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN135]; GRID:000796 [UPN135] |
| 104074 | F | 215350 | -,- | European | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN79]; PMID:18835223 [UPN79]; GRID:000796 [UPN79] |
| 104075 | M | 215351 | -,- | European | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN98]; GRID:000796 [UPN98] |
| 104076 | F | 215352 | - | European | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN25]; GRID:000796 [UPN25] |
| 104080 | M | 215356 | -,- | Middle Eastern | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN61]; GRID:000796 [UPN61] |
| 104081 | M | 215357 | - | Middle Eastern | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN72]; GRID:000796 [UPN72] |
| 104082 | M | 215358 | -,- | Middle Eastern | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN77]; GRID:000796 [UPN77] |
| 104086 | M | 215362 |
-,- | Middle Eastern | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN60]; GRID:000796 [UPN60(I.1)] |
| 104087 | M | 215363 |
-,- | Middle Eastern | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN65]; GRID:000796 [UPN65(II.2)] |
| 104090 | F | 215366 | -,- | European | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN26]; GRID:000796 [UPN26] |
| 104091 | F | 215367 |
- | European | Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN2]; PMID:18835223 [UPN2]; GRID:000796 [UPN2(II.4)] |
| 104093 | M | 215369 | -,- | European | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN102]; GRID:000796 [UPN102] |
| 104094 | M | 215370 | -,- | European | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN36]; GRID:000796 [UPN36] |
| 104095 | F | 215371 | -,- | European | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN57]; GRID:000796 [UPN57] |
| 104097 | M | 215373 | -,- | European | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN71]; PMID:18835223 [UPN71]; GRID:000796 [UPN71] |
| 104098 | F | 215374 | -,- | European | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN16]; PMID:18835223 [UPN16]; GRID:000796 [UPN16] |
| 104099 | M | 215375 | 13 | Colombian | Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN32]; PMID:18835223 [UPN32]; GRID:000796 [UPN32] |
| 104100 | M | 215376 | -,- | Colombian | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN33]; PMID:18835223 [UPN33]; GRID:000796 [UPN33] |
| 104102 | M | 215378 | -,- | Middle Eastern | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN45]; GRID:000796 [UPN45] |
| 104103 | F | 215379 | -,- | European | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN66]; GRID:000796 [UPN66] |
| 104108 | M | 215384 | -,- | European | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN104]; GRID:000796 [UPN104] |
| 104109 | M | 215385 | -,- | North American | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN49]; GRID:000796 [UPN49] |
| 104110 | F | 215386 | -,- | European | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN109]; GRID:000796 [UPN109] |
| 104111 | M | 215387 | -,- | Latino | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN27]; GRID:000796 [UPN27] |
| 104112 | F | 215388 | -,- | European | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN103]; GRID:000796 [UPN103] |
| 104113 | M | 215389 | -,- | European | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN18]; PMID:18835223 [UPN18]; GRID:000796 [UPN18] |
| 104114 | M | 215390 | -,- | European | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN116]; GRID:000796 [UPN116] |
| 104190 | F | 215399 | -,- | Latino | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN30] |
| 104191 | F | 215400 | -,- | Middle Eastern | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN136] |
| 104193 | M | 215402 | -,- | European | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN147] |
| 104194 | M | 215403 | -,- | European | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN151] |
| 104195 | M | 215404 | -,- | European | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN152] |
| 104201 | F | 215408 | -,- | European | Mucocutaneous candidiasis,Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN158] |
| 104202 | F | 215409 | -,- | European | Candida Onychomycosis,Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN159] |
| 104248 | M | 215424 | - | Afro-American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P10]; PMID:23584561 [T2-10] |
| 104250 | F | 215426 | - | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P15] |
| 104251 | M | 215427 | - | North American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P16]; PMID:35059947 [Patient 4] |
| 104252 | F | 215428 | - | North American | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P17]; PMID:21288777 [S668F] |
| 104255 | M | 215431 | - | Afro-American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P20]; PMID:32768442 [Patient 5] |
| 104263 | F | 215439 | - | Afro-American | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P36]; PMID:23584561 [T2-17] |
| 104296 | M | 215449 |
- | Chinese (China) | Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:21107604 [Case(II.1)] |
| 104300 | F | 215450 |
- | Greek | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:20149460 [Patient] |
| 104311 | M | 215452 | - | Australian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18591410 [HIES1] |
| 104313 | M | 215454 | - | Australian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18591410 [HIES3] |
| 104314 | F | 215455 |
- | Australian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18591410 [HIES4] |
| 104315 | F | 215456 | - | Australian | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:18591410 [HIES5] |
| 104332 | F | 215471 | - | Caucasian | Candida Onychomycosis | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [W479C]; PMID:23584561 [T3-17]; PMID:26292779 [H3] |
| 104336 | F | 215475 | - | Vulvovaginal candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [N472D]; PMID:23584561 [T2-9] | |
| 104349 | M | 215488 | - | Vulvovaginal candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [del371-380]; PMID:23584561 [T3-14] | |
| 104369 | F | 215508 | - | Vulvovaginal candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [V343F] | |
| 104385 | F | 215517 |
- | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [Fam.13:I.2(mother)] | |
| 104438 | F | 215527 |
- | Middle Eastern | Mucocutaneous candidiasis | Early-onset atopic inflammation | PMID:36884218 [Fam.A:II.1(P1)] |
| 104449 | M | 215529 |
- | Middle Eastern | Esophageal candidiasis | Early-onset atopic inflammation | PMID:36884218 [Fam.C:II.1(P4)] |
| 104453 | F | 215530 |
- | European | Vulvovaginal candidiasis | Early-onset atopic inflammation | PMID:36884218 [Fam.D:II.1(P5)] |
| 104465 | M | 215533 |
- | Mucocutaneous candidiasis | Early-onset atopic inflammation | PMID:36884218 [Fam.G:II.1(P10)] | |
| 104520 | M | 215537 | - | Gypsy | Esophageal candidiasis | ARPC1B deficiency | PMID:31379835 [Fam.P1:II.2(P2)] |
| 104847 | M | 215581 | 0 | Egyptian | Oral candidiasis | Omenn syndrome 2 | PMID:30307608 [2] |
| 104848 | F | 215582 | 0 | Egyptian | Oral candidiasis | Omenn syndrome 2 | PMID:30307608 [3] |
| 104856 | F | 215590 | 0 | Egyptian | Oral candidiasis | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [9] |
| 104858 | M | 215592 | 0 | Egyptian | Oral candidiasis | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [11] |
| 104859 | M | 215593 | 0 | Egyptian | Oral candidiasis | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [12] |
| 104862 | F | 215596 | 0 | Egyptian | Oral candidiasis | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [15] |
| 104866 | F | 215600 | 0 | Egyptian | Oral candidiasis | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [18] |
| 104867 | F | 215601 | 0 | Egyptian | Oral candidiasis | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [19] |
| 104871 | M | 215602 | 0 | Egyptian | Oral candidiasis | Severe combined immunodeficiency 9A, T-B- | PMID:30307608 [21] |
| 104879 | F | 215606 | - | Egyptian | Oral candidiasis | Severe combined immunodeficiency 9A, T-B- | PMID:30307608 [25] |
| 104880 | M | 215607 | - | Egyptian | Oral candidiasis | Severe combined immunodeficiency 9A, T-B- | PMID:30307608 [26] |
| 104881 | F | 215608 | - | Egyptian | Oral candidiasis | Severe combined immunodeficiency 10A, T-B+ | PMID:30307608 [27] |
| 104882 | F | 215609 | - | Egyptian | Oral candidiasis | Severe combined immunodeficiency 10B, T-B+ | PMID:30307608 [28] |
| 104884 | M | 215611 | - | Egyptian | Oral candidiasis | Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity | PMID:30307608 [30] |
| 104886 | F | 215613 |
- | Caucasian | Mucocutaneous candidiasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)] |
| 105019 | M | 215624 |
- | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [P1(III.4)] |
| 105023 | M | 215624 |
- | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:II.2(P2)] |
| 105058 | F | 215624 |
- | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:II.3(P4)] |
| 105063 | F | 215624 |
- | French | Mucocutaneous candidiasis | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:III.2(P6)] |
| 105088 | M | 215638 | - | Japanese | Mucocutaneous candidiasis | 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] |
| 105180 | M | 215662 | - | Caucasian | Mucocutaneous candidiasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)] |
| 105194 | M | 215665 |
- | Iranian | Oral candidiasis | Immunodeficiency, common variable, 8 | PMID:27888588 [Case(II.1)] |
| 105203 | F | 215669 | 4 | Turkish | Esophageal candidiasis | Immunodeficiency, common variable, 8 | PMID:23733509 [P1(II.1)] |
| 105353 | F | 215715 | - | Turkish | Esophageal candidiasis | Immunodeficiency, common variable, 8 | PMID:26686526 [P1] |
| 105412 | F | 215762 |
- | Caucasian | Vulvovaginal candidiasis | 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)] |
| 105475 | F | 215776 |
20 | European | Vulvovaginal candidiasis | Ezrin immunodeficiency | PMID:37301410 [P1(II.4)] |
| 105648 | M | 215833 | 2 | Esophageal candidiasis | Immunodeficiency, common variable, 8 | PMID:33845048 [Patient] | |
| 105687 | F | 215840 |
- | Caucasian | Vulvovaginal candidiasis | NFKB1 insufficiency | PMID:32278790 [Fam.BL:I.1(I.1)]; PMID:150198 [Fam.CE:I.2(416)]; PMID:36105815 [Fam.H67Y:I.2(H67Y/1)] |
| 105690 | F | 215840 |
- | Caucasian | Oral candidiasis | NFKB1 insufficiency | PMID:32278790 [Fam.BL:II.1(II.1)]; PMID:150198 [Fam.CE:II.1(417)]; PMID:36105815 [Fam.H67Y:II.1(H67Y/2)] |
| 105775 | F | 215868 | 36 | German | Esophageal candidiasis | NFKB1 insufficiency | PMID:32278790 [BX.I.1]; PMID:150198 [Fam.DI:466]; PMID:36105815 [Y286N] |
| 105830 | M | 215887 | 5 | Polish | Mucocutaneous candidiasis | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.2 Sporadic pati:2 Sporadic patient 2] |
| 105957 | M | 215914 | - | Caucasian | Mucocutaneous candidiasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.P:II.2(P.II.2 (43))] |
| 106017 | M | 215725 | - | Caucasian | Mucocutaneous candidiasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Z:II.3(Z.II.2 (64))] |
| 106044 | F | 215929 | - | Caucasian | Mucocutaneous candidiasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.KK:II.1(KK.II.1 (85))] |
| 106047 | F | 215930 | 14 | Caucasian | Mucocutaneous candidiasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
| 106068 | M | 215931 | - | Caucasian | Mucocutaneous candidiasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.PP:II.1(PP.II.1 (96))] |
| 106070 | F | 215933 | - | Caucasian | Mucocutaneous candidiasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.SS:II.1(SS.II.1 (99))] |
| 106090 | M | 215946 |
0 | Saudi | Oral candidiasis | T-cell immunodeficiency with thymic aplasia | PMID:33464451 [P11]; PMID:37419334 [P11(27)]; PMID:31151968 [Fam.1:II.2(Patient)] |
| 106209 | F | 215975 |
70 | Finnish | Mucocutaneous candidiasis | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.3(694)]; PMID:36356849 [Fam.2:III.3(F2:III:3)] |
| 106246 | F | 215977 | -,- | Caucasian | Mucocutaneous candidiasis,Vulvovaginal candidiasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.11(UU.III.7 (111))]; PMID:29305966 [Fam.IV.2:III.2(III.2)] |
| 106313 | F | 215982 | -,- | Caucasian | Esophageal candidiasis,Mucocutaneous candidiasis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P1] |
| 106753 | F | 216122 |
0 | Chinese (China) | Oral candidiasis | T-negative/B-positive SCID type 1 | PMID:31309596 [Pt(II.2)] |
| 106761 | F | 216124 |
0 | Caucasian | Oral candidiasis | T-negative/B-positive SCID type 1 | PMID:28916186 [P5]; PMID:31440277 [pt(II.1)] |
| 106957 | F | 216198 | - | Oral candidiasis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P13] | |
| 107044 | M | 216283 | - | Mucocutaneous candidiasis | Activated p110-delta syndrome 1 | PMID:28983403 [P1] | |
| 107156 | F | 216365 |
3 | Turkish | Esophageal candidiasis | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.B:II.2(Patient 2)] |
| 107164 | F | 216366 |
2 | Sri Lankan Tamil | Vulvovaginal candidiasis | Adenosine deaminase 2 deficiency | PMID:26607704 [Fam.P1:II.2(P2)] |
| 107175 | M | 216368 | - | Berber | Mucocutaneous candidiasis | IL-17RA deficiency | PMID:26607704 [IL17RA-case]; PMID:21350122 [Fam.A:II.5(P1)] |
| 107212 | F | 216374 | 0 | Arab | Oral candidiasis | Combined immunodeficiency 37 | PMID:31775018 [Patient] |
| 107226 | M | 216382 | 13 | North American | Oral candidiasis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt6]; PMID:33651637 [Patient 2]; PMID:28349047 [Case] |
| 107247 | F | 216396 | - | Oral candidiasis | Hyper-IgE recurrent infection syndrome 1 | GRID:001501 [case] | |
| 107249 | F | 216398 |
- | Argentinian | Oral candidiasis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt7]; PMID:29378236 [Fam.1:Patient 1] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).