Type I diabetes mellitus
Basic details
Preferred term: Type I diabetes mellitus
Alt. terms: Diabetes mellitus Type I | Insulin-dependent diabetes mellitus | Juvenile diabetes mellitus | Type 1 diabetes | Type I diabetes
HPO term: Type I diabetes mellitus
HPO code: HP:0100651
GenIA ID: 195
Last updated on: 2021-12-10 17:55:48
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: E10
Description
A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.
Hierarchical classification
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101043 | M | 210725![]() |
- | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017] |
101044 | F | 210725![]() |
-,- | Caucasian | Diabetes mellitus,Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:I.2(28)] |
101079 | M | 211310 | 10 | Type I diabetes mellitus | PMID:34975878 [Fam.F045:P045]; PMID:34390440 [NEG005] | ||
101084 | F | 211225 | 39 | Diabetes mellitus | PMID:34975878 [Fam.F050:P050] | ||
101090 | M | 211257 | 6 | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F056:P056]; PMID:37740092 [P13] | |
101101 | M | 211414 | - | Autoimmunity | Immunodeficiency, common variable, 13 | PMID:31057532 [Fam.G:II.1] | |
101119 | M | 210264 | 2 | Type I diabetes mellitus | PMID:34975878 [Fam.F070:P070] | ||
101160 | F | 211433 | - | Autoimmunity | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F101:P101] | |
101167 | M | 211470![]() |
- | Autoimmunity | NFKB1 insufficiency | PMID:34975878 [Fam.F108:P108]; PMID:33486103 [Fam.1:II.1(patient)]; PMID:150198 [Fam.DT:II.1(510)] | |
101178 | M | 210542 | 17 | Autoimmunity | PMID:34975878 [Fam.F114:P114] | ||
101201 | F | 211487 | - | Autoimmunity | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F123:II.3(P123)]; PMID:30941118 [Fam.1404:II.3(Pt#22)] | |
101228 | M | 210205![]() |
58 | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.3(A.II.2)]; PMID:29729943 [Fam.A:II.3(A.II.2 (2))] |
101303 | F | 212147 | 9 | Turkish | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:25479458 [Index(II.1)]; PMID:26707784 [P14] |
101309 | M | 212148 | 0 | Saudi | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.A:II.3(P1)]; PMID:26707784 [P15] |
101325 | M | 212150 | 0 | Turkish | Diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.1:II.4] |
101328 | M | 212151 | 1 | Moroccan | Diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.2:II.1(2.2)] |
101333 | M | 212151 | 0 | Moroccan | Diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.2:II.5(2.1)] |
101336 | M | 212152 | 0 | Omani | Diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.3 :II.1] |
101341 | F | 212153 | 0 | Omani | Diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.4 :II.1] |
101345 | F | 212154 | 1 | Iranian | Diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.5:II.1] |
101351 | M | 212155 | 1 | Egyptian | Diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.6:II.3] |
101354 | M | 212156 | 1 | Chinese (China) | Diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.7:II.1] |
101359 | F | 212157 | 1 | Turkish | Diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.8:II.1] |
101363 | M | 212158 | 1 | Pakistani | Diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.9:II.1] |
101404 | M | 210348 | 13 | Diabetes mellitus | PMID:34975878 [Fam.F139:P139] | ||
101409 | M | 212168 | 2 | Diabetes mellitus | Immunodeficiency, common variable, 8 | Pseudoxanthoma elasticum | PMID:27057999 [II.2(II.2)]; PMID:27057999 [II.2(II.2)] | |
101452 | M | 212394 | - | Iranian | Autoimmunity | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 1]; PMID:28512785 [Fam.3:P3]; PMID:31117086 [P33] |
101462 | M | 210006 | - | Diabetes mellitus | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F154:P154] | |
101473 | F | 212398 | 1 | Spanish | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:30386343 [Patient(II.1)] |
101476 | F | 210512 | 40 | Type I diabetes mellitus | PMID:34975878 [Fam.F158:P158] | ||
101490 | M | 211009 | 16 | Type I diabetes mellitus | PMID:34975878 [Fam.F164:P164] | ||
101628 | F | 210955 | - | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.ZZ:I.2(128)]; PMID:34975878 [Fam.F217:P217] |
101663 | M | 211078 | - | Autoimmunity | PMID:34975878 [Fam.F231:P231] | ||
101753 | M | 210024 | - | Japanese | Diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.1(P10)] |
101755 | M | 210025 | 2 | North American | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)] |
101756 | F | 210025 | 2 | North American | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.2(P13)]; PMID:26206937 [Fam.P1:II.2(P2)] |
101763 | M | 210030 | 6 | North American | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.629:P18]; PMID:26206937 [P8] |
101775 | M | 210908![]() |
- | Argentinian | Autoimmunity | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P9:II.2(P10)] |
101777 | F | 210920 | 2 | Libyan | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:26745254 [P1(II.1)] |
101778 | M | 210920 | - | Libyan | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:26745254 [Fam.P1:II.3(P2)] |
101797 | M | 211108 | - | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.QQ:II.1(97)]; PMID:34975878 [Fam.F258:P258] |
101801 | M | 211151 | - | Autoimmunity | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F260:P260]; PMID:37740092 [P20] | |
101813 | F | 211525 | 38 | Type I diabetes mellitus | PMID:34975878 [Fam.F273:P273] | ||
101821 | F | 210122 | - | Autoimmunity | PMID:34390440 [NEG027] | ||
101827 | M | 211564 | 1 | Type I diabetes mellitus | PMID:34975878 [Fam.F291:P291] | ||
101833 | M | 210887 | - | Autoimmunity | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F295:P295] | |
101840 | F | 211591 | - | Autoimmunity | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F301:P301] | |
101848 | F | 211633 | - | Autoimmunity | PMID:34975878 [Fam.F309:P309] | ||
101878 | F | 211747 | - | Autoimmunity | PMID:34975878 [Fam.F323:P323] | ||
101882 | M | 211763 | - | Diabetes mellitus | PMID:34975878 [Fam.F325:P325] | ||
101897 | F | 211768 | 30 | Type I diabetes mellitus | PMID:34975878 [Fam.F328:P328] | ||
101932 | F | 210102 | - | Autoimmunity | Immunodeficiency 31C | PMID:34390440 [CMC11] | |
101951 | M | 212062 | - | Autoimmunity | PMID:34975878 [Fam.F375:P375] | ||
102142 | M | 214393![]() |
- | North American | Type I diabetes mellitus | Immunodeficiency, common variable, 14 | PMID:27016798 [Fam.Patient:III.2(B)]; PMID:37876937 [Fam.A:III.2(A.2)] |
102222 | M | 214917 | 28 | German | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
102641 | M | 214973![]() |
19 | European | Type I diabetes mellitus | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.5:II.2(P5)] |
103448 | F | 215129![]() |
6 | Saudi | Type I diabetes mellitus | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.1:II.2(P1)] |
103454 | M | 215130![]() |
5 | Saudi | Type I diabetes mellitus | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.2:II.2(P2)] |
103999 | M | 215320![]() |
- | Type I diabetes mellitus | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P3] | |
104002 | F | 215323![]() |
- | Type I diabetes mellitus | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P6] | |
104886 | F | 215613![]() |
- | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)] |
104897 | F | 215613![]() |
- | Diabetes mellitus | PMID:25367873 [Fam.1:I.6(I.6)] | ||
104916 | M | 215613![]() |
- | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [G.III.2]; PMID:29729943 [Fam.G:III.2(G.III.2 (27))]; PMID:25367873 [Fam.1:III.5(III.5)] |
105025 | F | 215626![]() |
- | French | Autoimmunity | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:32392079 [P1]; PMID:29590538 [Patient]; PMID:35677041 [Pt8] |
105046 | M | 215632![]() |
1 | Type I diabetes mellitus | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Fam.1:II.1(Patient 1)] | |
105057 | F | 215635![]() |
26 | German | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [S.I.1]; PMID:29403474 [Patient 1 (8)]; PMID:27365489 [Fam.1:II.1(Pat.1)]; PMID:150198 [Fam.AE:II.1(121)] |
105088 | M | 215638 | - | Japanese | Type I diabetes mellitus | 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) | Autoimmunity | Immunodeficiency, common variable, 14 | PMID:37350971 [Patient(II.1)]; PMID:37876937 [Fam.E:II.1(E.1)] |
105172 | M | 215659 | - | Caucasian | Autoimmunity | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.T:II.1(T.II.1 (48))]; PMID:27102614 [Fam.A:II.1(1)] |
105173 | M | 215659 | - | Autoimmunity | PMID:27102614 [Fam.A:I.1(father)] | ||
105180 | M | 215662 | -,2 | Caucasian | Diabetes mellitus,Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)] |
105185 | M | 215663 | 7 | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.E:III.1(6)]; PMID:30940614 [P7] | |
105214 | F | 215666![]() |
- | Finnish | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.2(III.2)]; PMID:29403474 [Fam.1 (9):III.2(F1.III-2)]; PMID:28115215 [Fam.1:III.2(F1.III-2)]; PMID:150198 [Fam.AQ:III.2(176)]; PMID:36356849 [Fam.6:III.2(F6:III:2)]; PMID:36105815 [Fam.H67R:III.2(H67R/3)] |
105231 | M | 215671![]() |
- | Finnish | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [Fam.F2:III.2(III.2)]; PMID:29403474 [Fam.2 (9):III.2(F2.III-2)]; PMID:28115215 [Fam.2:III.2(F2.III-2)]; PMID:150198 [Fam.AR:III.2(193)]; PMID:36356849 [Fam.5:III.2(F5:III:2)] |
105239 | F | 215672![]() |
- | Finnish | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [Fam.F3:II.8(II.6)]; PMID:28115215 [Fam.3:II.6(F3.II-6)]; PMID:150198 [Fam.AS:II.14(209)]; PMID:36356849 [Fam.3:II.14(F3:II:14)]; PMID:36892687 [II:7(II.7)]; PMID:38593810 [Fam.1:II.13(F1.II-7)] |
105249 | M | 215676 | 0 | Turkish | Diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:28956255 [Fam.P2:II.2] |
105272 | M | 215681 | - | Saudi | Autoimmunity | Immunodeficiency, common variable, 8 | PMID:28134088 [P1(II.1)] |
105273 | F | 215682 | - | North American | Autoimmunity | CTLA4 haploinsufficiency with autoimmune infiltration | GRID:000111 [Patient(I.1)] |
105301 | M | 215686![]() |
- | European | Type I diabetes mellitus | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.4(II.3)]; PMID:29477724 [Fam.C:II.4(II:3)]; PMID:150198 [Fam.AW:II.3(249)] |
105313 | M | 215688![]() |
7 | European | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [E.II.1]; PMID:29477724 [Fam.E:II.1(II:1)]; PMID:150198 [Fam.AY:II.2(264)]; PMID:36105815 [Fam.I281M:II.2(I281M/1)] |
105350 | M | 215712 | 1 | Omani | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:28690850 [P1] |
105351 | M | 215713 | - | Saudi | Autoimmunity | Immunodeficiency, common variable, 8 | PMID:28831385 [PD] |
105355 | M | 215717 | - | Caucasian | Autoimmunity | Immunodeficiency, common variable, 8 | PMID:28197149 [P1(II.1)] |
105386 | F | 215737 | 9 | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:29183106 [Patient 8] | |
105388 | M | 215739 | - | Diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:31238161 [Fam.F1:P1] | |
105398 | F | 215749 | 2 | Autoimmunity | Immunodeficiency, common variable, 8 | PMID:31389321 [Patient 1] | |
105428 | M | 215766![]() |
- | Admixed | Autoimmunity | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.F:II.2(P9)]; PMID:25457153 [Fam.1:II.3(P2)]; PMID:25075846 [Fam.1:II.3(younger-sib)] |
105470 | M | 215774 | - | Iranian | Diabetes mellitus | NFKB1 insufficiency | PMID:150198 [Fam.BP:309]; PMID:31117086 [P35] |
105529 | M | 215789 | - | Type I diabetes mellitus | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:27379089 [P7] | |
105564 | M | 215807![]() |
3 | Spanish | Autoimmunity | 4q24 deletion syndrome | PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)] |
105648 | M | 215833 | 1 | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:33845048 [Patient] | |
105651 | F | 210401![]() |
- | German | Autoimmunity | PMID:150198 [Fam.BW:I.2(349)] | |
105667 | M | 215672![]() |
8 | Finnish | Type I diabetes mellitus | NFKB1 insufficiency | PMID:32278790 [Fam.F3:III.3(III.3)]; PMID:150198 [Fam.AS:III.11(220)]; PMID:36356849 [Fam.3:III.11(F3:III:11)]; PMID:36892687 [III:3(III.3)]; PMID:38593810 [Fam.1:III.11(F1.III-11)] |
105671 | M | 215837![]() |
- | Spanish | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)] |
105687 | F | 215840![]() |
-,- | Caucasian | Autoimmunity,Type I diabetes mellitus | 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)] |
105693 | F | 215841![]() |
16 | Australian | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [Fam.W:II.1(W.II.1)]; PMID:150198 [Fam.CF:II.1(420)] |
105697 | F | 211370![]() |
- | Turkish | Diabetes mellitus | PMID:32278790 [Fam.AJ:I.1(I.1)]; PMID:150198 [Fam.BZ:I.2(366)] | |
105701 | M | 211370![]() |
- | Turkish | Autoimmunity | PMID:32278790 [Fam.AJ:II.4(II.4)]; PMID:150198 [Fam.BZ:II.3(369)] | |
105744 | M | 215849 | - | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [AG.I.1]; PMID:150198 [Fam.CN:433] | |
105745 | M | 215850 | 3 | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [AI.I.1]; PMID:150198 [Fam.CO:434] | |
105750 | M | 215853 | 16 | North American | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [AP.I.1]; PMID:150198 [Fam.CQ:436] |
105756 | F | 215859 | 13 | Portuguese | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [BD.I.1]; PMID:150198 [Fam.CW:442] |
105781 | F | 215874 | - | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [CE.I.1]; PMID:150198 [Fam.DP:476] | |
105782 | M | 215875 | - | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [CF.I.1]; PMID:150198 [Fam.DQ:477] | |
105791 | F | 215877![]() |
16 | Spanish | Type I diabetes mellitus | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.1:II.1(1.1)] |
105800 | M | 215882 | - | Type I diabetes mellitus | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33864888 [S112] | |
105899 | F | 215900![]() |
4 | North American | Autoimmunity | NFKB1 insufficiency | PMID:150198 [Fam.DW:II.1(538)]; PMID:34307247 [Fam.1:II.1(daughter1)]; PMID:28802957 [Fam.1:II.1(II.1)] |
105957 | M | 215914 | - | Caucasian | Autoimmunity | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.P:II.2(P.II.2 (43))] |
105972 | F | 215916 | 5 | Japanese | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.U:II.3(U.II.3 (52))]; PMID:30048690 [Fam.1:II.3(P1.4)]; PMID:35087518 [Fam.13:II.3(13.4)] |
105979 | M | 215919 | - | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Y:I.1(Y.I.1 (60))] |
106041 | M | 215926 | - | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.EE:II.1(EE.II.1 (76))] |
106043 | F | 215928 | - | Afro-American | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.HH:II.1(HH.II.1 (82))] |
106062 | M | 210991 | - | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.13(NN.II.11 (94))] |
106068 | M | 215931 | - | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.PP:II.1(PP.II.1 (96))] |
106077 | M | 215934 | - | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.TT:II.4(TT.II.4 (103))] |
106078 | M | 215934 | - | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.TT:II.5(TT.II.5 (104))] |
106109 | M | 215952![]() |
- | Iranian | Autoimmunity | NFKB1 insufficiency | PMID:150198 [Fam.EG:III.4(584)]; PMID:35392793 [Fam.1:III.4(III-1(index))] |
106145 | M | 215954 | - | Slovak | Autoimmunity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:33464451 [P9]; PMID:37419334 [P9(27)] |
106153 | F | 215035![]() |
-,- | Caucasian | Autoimmunity,Type I diabetes mellitus | T-cell lymphopenia with or without nail dystrophy, AD | PMID:33464451 [Fam.P14:I.1(P17)]; PMID:37419334 [P17(22)] |
106155 | M | 215035![]() |
-,- | Caucasian | Autoimmunity,Type I diabetes mellitus | T-cell lymphopenia with or without nail dystrophy, AD | PMID:33464451 [Fam.P14:II.2(P16)]; PMID:37419334 [P16(27)] |
106178 | M | 215974![]() |
- | Finnish | Autoimmunity | 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)] |
106209 | F | 215975![]() |
- | Finnish | Autoimmunity | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.3(694)]; PMID:36356849 [Fam.2:III.3(F2:III:3)] |
106216 | F | 215975![]() |
- | Finnish | Autoimmunity | NFKB1 insufficiency | PMID:150198 [Fam.FM:IV.2(701)]; PMID:36356849 [Fam.2:IV.2(F2:IV:2)] |
106371 | M | 216004 | - | Autoimmunity | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29375547 [Fam.A:II.1(A.II.1)]; PMID:31396201 [P2(II.1)] | |
106390 | M | 216005 | 25 | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:32996901 [Patient(II.1)] | |
106422 | F | 216014 | - | Diabetes mellitus | NFKB1 insufficiency | PMID:150198 [Fam.DX:541]; PMID:34447408 [1(I.1)] | |
106452 | M | 216017 | - | Egyptian | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:32506362 [P1] |
106453 | M | 216018 | - | Egyptian | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:32506362 [P2(II.1)] |
106464 | M | 216024 | - | Egyptian | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:32506362 [P5] |
106475 | M | 216028 | - | Egyptian | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:32506362 [P10] |
106476 | M | 216029 | - | Egyptian | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:32506362 [P11] |
106477 | M | 216030 | - | Egyptian | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:32506362 [P12] |
106479 | M | 216032 | - | Egyptian | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:32506362 [P14(II.1)] |
106482 | F | 216035 | - | Egyptian | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:32506362 [P17] |
106483 | F | 216036 | - | Egyptian | Type I diabetes mellitus | Immunodeficiency, common variable, 8 | PMID:32506362 [P18] |
106501 | M | 216047 | - | Caucasian | Type I diabetes mellitus | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31156616 [Fam.B:II.2(B.II.1)] |
106556 | M | 216078![]() |
- | Caucasian | Diabetes mellitus | PMID:26867732 [Fam.A:I.1(Father)] | |
106557 | F | 216078![]() |
- | Caucasian | Diabetes mellitus | PMID:26867732 [Fam.A:I.2(Mother)] | |
106558 | M | 216078![]() |
- | Caucasian | Diabetes mellitus | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.2(P2)]; PMID:25075845 [Fam.1:II.1(Old-bro)] |
106584 | F | 216082![]() |
- | Caucasian | Autoimmunity | PMID:26867732 [Fam.E:II.2] | |
106616 | M | 216089![]() |
- | Australian | Type I diabetes mellitus | Agammaglobulinemia 8A | PMID:30323807 [Fam.1:III.1(III.1)]; PMID:29114388 [Fam.A:III.1(III.1)] |
106633 | M | 216093![]() |
- | Ashkenazi Jewish | Type I diabetes mellitus | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.6:I.1(P15)] |
106669 | M | 216103 | 25 | Type I diabetes mellitus | NFKB1 insufficiency | PMID:150198 [Fam.EE:565]; PMID:35281075 [5] | |
106787 | M | 216138 | - | Type I diabetes mellitus | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.278] | |
107096 | F | 216332 | 2 | Japanese | Type I diabetes mellitus | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [P3] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).