Abnormal T cell count
Basic details
Preferred term: Abnormal T cell count
Alt. terms: Abnormality of T cell number | Abnormal number of T cells
HPO term: Abnormal T cell count
HPO code: HP:0011839
GenIA ID: 651
Last updated on: 2021-12-06 09:20:57
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
A deviation (above or below) from the normal count of T cells.
Hierarchical classification
PARENT terms
TERM
Abnormal T cell count
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101023 | M | 210731 | - | German | Reduced T cell count | PMID:34975878 [Fam.F008:P008] | |
101121 | M | 210784 | - | German | Reduced T cell count | PMID:34975878 [Fam.F072:P072] | |
101132 | M | 210304 | - | German | Reduced T cell count | PMID:34975878 [Fam.F081:P081] | |
101136 | M | 210356 | - | Reduced T cell count | PMID:34975878 [Fam.F085:P085] | ||
101191 | M | 212375 | - | Egyptian | Reduced T cell count | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES14] |
101481 | U | 212455 | - | Italian | Reduced T cell count | Severe combined immunodeficiency 9A, T-B- | PMID:20547828 [OS6] |
101501 | F | 212459 | - | British | Reduced T cell count | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:II.2(P4)] |
101509 | F | 212459 | - | British | Reduced T cell count | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.2(P1)] |
101511 | M | 212459 | - | British | Reduced T cell count | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.3(P2)] |
101512 | M | 212459 | - | British | Reduced T cell count | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.4(P3)] |
101530 | M | 212460 | - | British | Reduced T cell count | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.3(P5)] |
101532 | F | 212460 | - | British | Reduced T cell count | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.5(P6)] |
101538 | F | 212460 | - | British | Reduced T cell count | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:IV.3(P7)] |
101541 | M | 212461 | - | Slovenian | Reduced T cell count | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.C:II.1(P8)] |
101548 | M | 212462 | - | Irish | Reduced T cell count | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.D:III.1(P9)] |
101549 | F | 212463 | - | British | Reduced T cell count | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:I.1(P13)] |
101552 | M | 212464 | - | French | Reduced T cell count | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.F:II.1(P14)] |
101563 | M | 212465 | - | French | Reduced T cell count | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.4(P17)] |
101596 | M | 212618![]() |
1 | Jewish | Reduced T cell count | ARPC1B deficiency | PMID:29127144 [P1(II.1)] |
101601 | M | 212619![]() |
- | Italian | Reduced T cell count | ARPC1B deficiency | PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2] |
101604 | M | 212620![]() |
- | Italian | Reduced T cell count | ARPC1B deficiency | PMID:30254128 [Fam.B:II.1(P2)]; PMID:30771411 [P3]; PMID:35967303 [Pt1]; PMID:35767111 [P1] |
101608 | M | 212621![]() |
- | Canadian | Reduced T cell count | ARPC1B deficiency | PMID:30254128 [Fam.C:II.1(P3)]; PMID:16019263 [case]; PMID:35967303 [Pt3] |
101611 | M | 212622![]() |
- | Colombian | Reduced T cell count | ARPC1B deficiency | PMID:30254128 [Fam.D:II.4(P4)] |
101617 | M | 210994 | - | Reduced T cell count | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F212:P212] | |
101622 | F | 212623![]() |
- | Moroccan | Reduced T cell count | ARPC1B deficiency | PMID:30254128 [Fam.E:II.1(P5)] |
101652 | M | 212629![]() |
3 | Nepalese | Reduced T cell count | ARPC1B deficiency | PMID:30771411 [P4(II.1)] |
101667 | M | 212631![]() |
6 | Moroccan | Reduced T cell count | ARPC1B deficiency | PMID:30771411 [P6(II.2)]; PMID:35767111 [P5] |
101974 | F | 214053![]() |
30 | Turkish | Increased T cell count | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.3(D.II.2)] |
101975 | F | 214053![]() |
35 | Turkish | Increased T cell count | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.2(D.II.1)]; PMID:34390440 [HIES53]; PMID:31980991 [Case] |
102119 | M | 214343 | - | Egyptian | Reduced T cell count | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES15] |
102142 | M | 214393![]() |
16 | North American | Increased T cell count | Immunodeficiency, common variable, 14 | PMID:27016798 [Fam.Patient:III.2(B)]; PMID:37876937 [Fam.A:III.2(A.2)] |
102250 | M | 214924![]() |
1 | Afghanistani | Reduced T cell count | ARPC1B deficiency | PMID:33679784 [II-6(II.6)]; PMID:35767111 [P7] |
102289 | M | 214934![]() |
0 | Moroccan | Reduced T cell count | Otofaciocervical syndrome 2 | PMID:28657137 [V:1(V.1)]; PMID:32111619 [Fam.B:V.4(P2)] |
102294 | F | 214934![]() |
0 | Moroccan | Reduced T cell count | Otofaciocervical syndrome 2 | PMID:28657137 [Fam.V:1:V.18(V:18)]; PMID:32111619 [Fam.B:V.2(P3)] |
102357 | M | 214937![]() |
1 | German | Reduced T cell count | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.A:II.1(P1)] |
102396 | F | 214944![]() |
1 | Saudi | Increased T cell count | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.4(P5)] |
102397 | F | 214944![]() |
0 | Saudi | Reduced T cell count | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.5(P6)] |
102398 | F | 214944![]() |
0 | Saudi | Reduced T cell count | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:V.2(P4)] |
102677 | M | 214980![]() |
19 | Pakistani | Reduced T cell count | JAK1 deficiency | PMID:28008925 [Patient(II.4)] |
102731 | F | 214982![]() |
8 | Colombian | Reduced T cell count | Immunodeficiency 99 | PMID:32484799 [Patient(II.2)] |
102814 | U | 214993![]() |
1 | Caucasian | Reduced T cell count | SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation | PMID:16439205 [Patient]; PMID:12604777 [2BN(II.1)] |
102818 | M | 214993![]() |
4 | Caucasian | Reduced T cell count | SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation | PMID:12604777 [Fam.2BN:II.2(3BN)] |
102871 | F | 215001![]() |
1 | Italian | Reduced T cell count | 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 | Reduced T cell count | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:20978268 [Fam.1:II.1(P1)]; PMID:33464451 [P3]; PMID:28077132 [P7]; PMID:22590644 [Patient(II.1)] |
102884 | M | 215004![]() |
0 | Admixed | Reduced T cell count | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:20978268 [Fam.2:II.1(P2)]; PMID:33464451 [P4]; PMID:22721479 [Patient]; PMID:28077132 [P8] |
102887 | F | 215005![]() |
0 | Lebanese | Reduced T cell count | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:25173801 [Patient(II.1)]; PMID:33464451 [P5]; PMID:28077132 [P9] |
102891 | F | 215006![]() |
0 | Indian | Reduced T cell count | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:28636882 [Patient(II.3)]; PMID:33464451 [P6] |
102897 | M | 215007![]() |
0 | Turkish | Reduced T cell count | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:30903456 [P1(II.1)]; PMID:33464451 [P12(II.1)]; PMID:37419334 [P12(27)] |
102898 | M | 215007![]() |
- | Turkish | Reduced T cell count | PMID:30903456 [Fam.P1:I.1(father)] | |
102899 | F | 215007![]() |
- | Turkish | Reduced T cell count | PMID:30903456 [Fam.P1:I.2(mother)] | |
102900 | F | 215007![]() |
1 | Turkish | Reduced T cell count | 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)] |
102911 | M | 215012 | - | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P1]; PMID:37419334 [P1(22)] | |
102912 | M | 215013 | - | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P2(II.1)]; PMID:37419334 [P2(22)] | |
102913 | M | 215014 | - | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P3] | |
102915 | F | 215016 | - | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P4]; PMID:37419334 [P4(22)] | |
102916 | F | 215017 | - | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P5]; PMID:37419334 [P5(22)] | |
102917 | M | 215018 | - | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P6]; PMID:37419334 [P6(22)] | |
102918 | F | 215019 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P7]; PMID:37419334 [P7(22)] | |
102919 | F | 215020 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P8(II.1)]; PMID:37419334 [P8(22)] | |
102920 | F | 215021 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P9]; PMID:37419334 [P9(22)] | |
102921 | M | 215022 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P10] | |
102922 | F | 215023 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P11] | |
102923 | F | 215024 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P12] | |
102924 | M | 215025 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P13] | |
102925 | M | 215026 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P14]; PMID:37419334 [P14(22)] | |
102926 | M | 215027 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P15(II.1)]; PMID:37419334 [P15(22)] | |
102927 | M | 215028 | - | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P16]; PMID:37419334 [P16(22)] | |
102928 | M | 215029 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P17] | |
102929 | F | 215030 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P18]; PMID:37419334 [P18(22)] | |
102930 | F | 215031 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P19]; PMID:37419334 [P19(22)] | |
102931 | F | 215032 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P20]; PMID:37419334 [P20(22)] | |
102932 | M | 215033 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P21]; PMID:37419334 [P21(22)] | |
102933 | M | 215034 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P22]; PMID:37419334 [P22(22)] | |
102934 | F | 215035![]() |
0 | Caucasian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P23]; PMID:33464451 [P14(III.1)]; PMID:37419334 [P23(22)] |
102935 | M | 215035![]() |
0 | Caucasian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P24]; PMID:33464451 [Fam.P14:III.2(P15)]; PMID:37419334 [P15(27)] |
102936 | M | 215037 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P25]; PMID:37419334 [P25(22)] | |
102937 | F | 215038 | - | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P26] | |
102938 | F | 215013 | - | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [Fam.P2:I.1(P27)] | |
102939 | F | 215027 | - | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [Fam.P15:I.1(P28)] | |
102940 | M | 215039 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P31]; PMID:37419334 [P31(22)] |
102941 | F | 215040 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P32]; PMID:37419334 [P32(22)] |
102942 | F | 215041 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P33]; PMID:37419334 [P33(22)] |
102943 | F | 215042 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P34]; PMID:37419334 [P34(22)] |
102944 | F | 215043 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P35]; PMID:37419334 [P35(22)] |
102945 | F | 215044 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P36]; PMID:37419334 [P36(22)] |
102946 | F | 215045 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P37]; PMID:37419334 [P37(22)] |
102947 | F | 215046 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P38]; PMID:37419334 [P38(22)] |
102948 | F | 215047 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P39]; PMID:37419334 [P39(22)] |
102949 | M | 215048 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P40]; PMID:37419334 [P40(22)] |
102950 | M | 215049 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P41]; PMID:37419334 [P41(22)] |
102951 | M | 215050 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P42]; PMID:37419334 [P42(22)] |
102952 | F | 215051 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P43]; PMID:37419334 [P43(22)] |
102953 | F | 215052 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P44]; PMID:37419334 [P44(22)] |
102954 | M | 215053 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P45]; PMID:37419334 [P45(22)] |
102955 | M | 215054 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P46]; PMID:37419334 [P46(22)] |
102956 | F | 215055 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P47]; PMID:37419334 [P47(22)] |
102957 | F | 215056 | - | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P29] | |
102958 | F | 215020 | - | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [Fam.P8:I.1(P30)] | |
102962 | F | 215058![]() |
0 | North American | Reduced T cell count | T-cell immunodeficiency with thymic aplasia | PMID:31566583 [P1(II.1)]; PMID:37419334 [P1] |
102965 | F | 215059![]() |
0 | North American | Reduced T cell count | T-cell immunodeficiency with thymic aplasia | PMID:31566583 [P2(II.1)]; PMID:37419334 [P2] |
102968 | U | 215060 | - | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P3]; PMID:37419334 [P3] |
102969 | U | 215061 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P4]; PMID:37419334 [P4] |
102970 | U | 215062 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P5]; PMID:37419334 [P5] |
102971 | U | 215063 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P6]; PMID:37419334 [P6] |
102972 | U | 215064 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P7]; PMID:37419334 [P7] |
102973 | U | 215065 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P8]; PMID:37419334 [P8] |
102974 | U | 215066 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P9]; PMID:37419334 [P9] |
102975 | U | 215067 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P10]; PMID:37419334 [P10] |
102976 | U | 215068 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P11]; PMID:37419334 [P11] |
102977 | U | 215069 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P12]; PMID:37419334 [P12] |
102978 | U | 215070 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P13]; PMID:37419334 [P13] |
102979 | U | 215071 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P14]; PMID:37419334 [P14] |
102980 | U | 215072 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P15]; PMID:37419334 [P15] |
102981 | U | 215073 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P16]; PMID:37419334 [P16] |
102987 | F | 215075![]() |
14 | Austrian | Reduced T cell count | Immunodeficiency 97 | PMID:33054089 [Patient(II.1)] |
103062 | M | 215096![]() |
7 | Finnish | Reduced T cell count | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F2:II.2(P3)] |
103285 | F | 215112![]() |
1 | Ashkenazi Jewish | Increased T cell count | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.2:II.1(P2)] |
103286 | M | 215112![]() |
1 | Ashkenazi Jewish | Reduced T cell count | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.2:I.1(P3)] |
103292 | F | 215114 | 52 | German | Reduced T cell count | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P5] |
103462 | F | 215132![]() |
0 | Moroccan | Reduced T cell count | ARPC1B deficiency | PMID:35767111 [P4(II.2)] |
103541 | M | 215155![]() |
2 | Mexican | Reduced T cell count | ARPC1B deficiency | PMID:36708766 [Fam.B:II.1(P4)] |
103547 | M | 215157![]() |
- | Mexican | Reduced T cell count | ARPC1B deficiency | PMID:36708766 [Fam.D:II.4(P6)] |
103877 | F | 215266![]() |
15 | Finnish | Increased T cell count | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2] |
103997 | M | 215318![]() |
- | Reduced T cell count | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P1]; PMID:30092289 [P16] | |
104003 | F | 215324 | - | Reduced T cell count | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P7] | |
104004 | F | 215325 | - | Reduced T cell count | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P8] | |
104226 | F | 215419![]() |
- | Spanish | Reduced T cell count | Tubulointerstitial kidney disease type 5 | PMID:33185949 [case(II.1)] |
104392 | F | 215520![]() |
2 | French | Increased T cell count | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [Patient] |
104410 | M | 215525![]() |
1 | Japanese | Increased T cell count | Early-onset atopic inflammation | PMID:36538978 [Patient(II.2)] |
104414 | M | 215526![]() |
8 | Turkish | Increased T cell count | Early-onset atopic inflammation | PMID:36758835 [Patient(V.3)] |
104519 | F | 215537 | - | Gypsy | Reduced T cell count | ARPC1B deficiency | PMID:31379835 [P1] |
104522 | F | 215539 | - | Gypsy | Reduced T cell count | ARPC1B deficiency | PMID:31379835 [P4] |
104533 | M | 215545![]() |
- | Caucasian | Reduced T cell count | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.B:II.1(Patient B)] |
104540 | M | 215549![]() |
- | North African | Reduced T cell count | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.F:II.1(Patient F)] |
104685 | F | 215571![]() |
- | Iranian | Reduced T cell count | Severe early onset systemic inflammation and autoimmunity | PMID:37382373 [Fam.1:VI.6(VI.5)] |
104713 | M | 215571![]() |
- | Iranian | Reduced T cell count | Severe early onset systemic inflammation and autoimmunity | PMID:37382373 [Fam.1:VI.5(VI.4)] |
104715 | M | 215572![]() |
- | French | Increased T cell count | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [V-1(V.1)] |
104741 | M | 215572![]() |
- | French | Increased T cell count | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:III.6] |
104773 | F | 215572![]() |
- | French | Increased T cell count | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.7] |
104782 | M | 215572![]() |
1 | French | Increased T cell count | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:V.2] |
104786 | F | 215573![]() |
13 | Reduced T cell count | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:II.1(A.II.1)]; PMID:27418640 [P2(4)] | |
104791 | M | 215575![]() |
15 | Reduced T cell count | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.C:II.1(C.II.1)]; PMID:27418640 [P4(4)] | |
104797 | M | 215577![]() |
6 | Reduced T cell count | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)] | |
104845 | F | 215579![]() |
48 | European | Reduced T cell count | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:II.2(II.2)]; PMID:26279205 [Fam.NZ:II.2(II2)]; PMID:29403474 [Fam.NZ (5):II.2(II2)]; PMID:29806948 [Fam.NZ:II.2(II.2)]; PMID:30323807 [Fam.2:II.2(II.2)]; PMID:150198 [Fam.AC:II.2(109)] |
104846 | F | 215580 | 0 | Egyptian | Reduced T cell count | Omenn syndrome 2 | PMID:30307608 [1] |
105034 | F | 215628![]() |
- | Finnish | Reduced T cell count | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25349174 [Fam.3:II.1(Patient 3)] |
105051 | F | 215634![]() |
- | Increased T cell count | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:29180260 [Patient(II.1)] | |
105088 | M | 215638 | 35 | Japanese | Reduced T cell count | 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] |
105110 | M | 215644 | - | Reduced T cell count | NFKB1 insufficiency | PMID:27379089 [P3]; PMID:32278790 [U.I.3]; PMID:29403474 [Patient 3 (10)]; PMID:150198 [Fam.AH:145] | |
105112 | F | 215646 | - | Reduced T cell count | NFKB1 insufficiency | PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147] | |
105129 | M | 215647![]() |
- | Reduced T cell count | NFKB1 insufficiency | PMID:27379089 [Fam.1:c1(P1)]; PMID:32278790 [Fam.BA:II.1(II.1)]; PMID:29403474 [Fam.(10):c1(Patient 1)]; PMID:150198 [Fam.AG:IV.1(143)] | |
105149 | M | 215654![]() |
21 | Chinese (China) | Reduced T cell count | Immunodeficiency, common variable, 14 | PMID:37350971 [Patient(II.1)]; PMID:37876937 [Fam.E:II.1(E.1)] |
105177 | M | 215661 | 16 | Caucasian | Reduced T cell count | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [L.II.2]; PMID:29729943 [Fam.L:II.2(L.II.2 (36))]; PMID:27102614 [Fam.C:II.2(4)] |
105180 | M | 215662 | 18 | Caucasian | Increased T cell count | 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 | 13 | Reduced T cell count | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.E:III.1(6)]; PMID:30940614 [P7] | |
105190 | F | 215664 | 28 | Caucasian | Reduced T cell count | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.F:II.1(7)] |
105191 | F | 215664 | 26 | Caucasian | Reduced T cell count | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.F:II.2(8)] |
105204 | M | 215670![]() |
- | Reduced T cell count | T-negative/B-positive SCID type 1 | PMID:7659163 [Fam.1:II.1(G.M.)] | |
105273 | F | 215682 | 18 | North American | Increased T cell count | CTLA4 haploinsufficiency with autoimmune infiltration | GRID:000111 [Patient(I.1)] |
105276 | F | 215684![]() |
1 | Saudi | Reduced T cell count | Autoinflammation, panniculitis, and dermatosis syndrome 2 | PMID:38914362 [Fam.O:II.1(113)]; PMID:38630025 [Fam.2:II.1(Patient 2)] |
105308 | F | 215687![]() |
- | European | Reduced T cell count | NFKB1 insufficiency | PMID:32278790 [Fam.D:II.2(II.2)]; PMID:29477724 [Fam.D:II.2(II:2)]; PMID:150198 [Fam.AX:II.2(260)] |
105314 | F | 215689 | - | European | Reduced T cell count | NFKB1 insufficiency | PMID:32278790 [F.II.1]; PMID:29477724 [Fam.F:II.1(II:1)]; PMID:150198 [Fam.AZ:265]; PMID:36105815 [V98D] |
105315 | F | 215690 | - | European | Reduced T cell count | NFKB1 insufficiency | PMID:32278790 [G.II.1]; PMID:29477724 [Fam.G:II.1(II:1)]; PMID:150198 [Fam.BA:266]; PMID:36105815 [I87S] |
105316 | U | 215691 | - | European | Increased T cell count | NFKB1 insufficiency | PMID:32278790 [H.II.1]; PMID:29477724 [Fam.H:II.1(II:1)]; PMID:150198 [Fam.BB:267] |
105335 | U | 215697 | - | European | Reduced T cell count | NFKB1 insufficiency | PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288] |
105338 | U | 215700 | - | European | Reduced T cell count | NFKB1 insufficiency | PMID:32278790 [K.II.1]; PMID:29477724 [Fam.K:II.1(II:1)]; PMID:150198 [Fam.BE:280] |
105412 | F | 215762![]() |
27 | Caucasian | Reduced T cell count | 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 | Reduced T cell count | 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)] |
105432 | M | 215767![]() |
33 | Caucasian | Reduced T cell count | NFKB1 insufficiency | PMID:150198 [Fam.BR:II.1(316)]; PMID:31803180 [Fam.A:II.1(S1)]; PMID:34619682 [P.200] |
105529 | M | 215789 | - | Reduced T cell count | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:27379089 [P7] | |
105543 | M | 215797 | 40 | Reduced T cell count | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:28983403 [P7] | |
105549 | F | 215801 | 18 | Caucasian | Reduced T cell count | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29200144 [Fam.A:IV.1(P1)] |
105934 | M | 215910![]() |
0 | Reduced T cell count | T-negative/B-positive SCID type 1 | PMID:7659163 [Fam.2:II.1(C.M.)]; PMID:8676091 [Fam.1:II.1(C.M.)] | |
105943 | M | 215912![]() |
- | Colombian/Swiss | Reduced T cell count | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.C:II.1(P8)] |
106090 | M | 215946![]() |
0 | Saudi | Reduced T cell count | T-cell immunodeficiency with thymic aplasia | PMID:33464451 [P11]; PMID:37419334 [P11(27)]; PMID:31151968 [Fam.1:II.2(Patient)] |
106144 | F | 215953 | 0 | Italian | Reduced T cell count | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:33464451 [P8]; PMID:37419334 [P8(27)] |
106145 | M | 215954 | 10 | Slovak | Reduced T cell count | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:33464451 [P9]; PMID:37419334 [P9(27)] |
106150 | F | 215955 | 1 | Turkish | Reduced T cell count | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:33464451 [P10] |
106156 | M | 215035![]() |
0 | Caucasian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:33464451 [Fam.P14:III.3(P18)]; PMID:37419334 [P18(27)] |
106332 | F | 215988![]() |
- | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:37419334 [P1(43)(II.2)]; PMID:34860543 [Fam.1:II.2(P1)] | |
106334 | M | 215988![]() |
- | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:37419334 [P3(43)(I.2)]; PMID:34860543 [Fam.1:I.2] | |
106335 | F | 215988![]() |
- | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:37419334 [P2(43)(II.1)]; PMID:34860543 [Fam.1:II.1] | |
106338 | M | 215991![]() |
- | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:34860543 [Fam.2:II.2(P2)] | |
106363 | F | 216001![]() |
3 | Argentinian | Reduced T cell count | Immunodeficiency 117 | PMID:36736301 [Fam.A:II.1(P1)] |
106646 | M | 216099 | 22 | Reduced T cell count | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34628649 [Patient(III.1)] | |
106750 | F | 216121![]() |
0 | Palestinian | Reduced T cell count | T-negative/B-positive SCID type 1 | PMID:32921793 [Fam.B:II.1(P1-B)] |
106753 | F | 216122![]() |
1 | Chinese (China) | Reduced T cell count | T-negative/B-positive SCID type 1 | PMID:31309596 [Pt(II.2)] |
106760 | M | 216123![]() |
0 | Israeli | Reduced T cell count | X-linked severe combined immunodeficiency | PMID:32921793 [Fam.A:II.1(P1-A)] |
106761 | F | 216124![]() |
1 | Caucasian | Increased T cell count | T-negative/B-positive SCID type 1 | PMID:28916186 [P5]; PMID:31440277 [pt(II.1)] |
106847 | M | 216169![]() |
40 | Caucasian | Reduced T cell count | Adenosine deaminase 2 deficiency | PMID:29963054 [P1(II.1)] |
107043 | M | 216282 | - | Reduced T cell count | Activated p110-delta syndrome 1 | PMID:27444043 [P1] | |
107151 | M | 216364![]() |
6 | Turkish | Reduced T cell count | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.A:II.1(Patient 1)] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).