Reduced NK cell number
Basic details
Preferred term: Reduced NK cell number
Alt. terms: Reduced NK cell count | NK lymphopenia | Reduced natural killer cell number
HPO term: Reduced natural killer cell count
HPO code: HP:0040218
GenIA ID: 133
Last updated on: 2021-12-06 09:20:57
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
A less-than-normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.
Hierarchical classification
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101023 | M | 210731 | - | German | Reduced NK cell number | PMID:34975878 [Fam.F008:P008] | |
101095 | M | 210286 | 0 | Reduced NK cell number | PMID:34975878 [Fam.F060:P060] | ||
101115 | F | 210778 | 33 | Caucasian | Reduced NK cell number | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
101125 | M | 210429 | 40 | German | Reduced NK cell number | Immunodeficiency, common variable, 1 | PMID:34975878 [Fam.F076:P076]; PMID:35486341 [P060] |
101143 | F | 211219 | - | Reduced NK cell number | PMID:34975878 [Fam.F088:P088] | ||
101365 | M | 212160 | - | North American | Reduced NK cell number | Immunodeficiency, common variable, 8 | PMID:27379089 [P14] |
101401 | F | 210205![]() |
- | Caucasian | Reduced NK cell number | 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)] |
101473 | F | 212398 | 4 | Spanish | Reduced NK cell number | Immunodeficiency, common variable, 8 | PMID:30386343 [Patient(II.1)] |
101601 | M | 212619![]() |
- | Italian | Reduced NK cell number | ARPC1B deficiency | PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2] |
101631 | F | 212624![]() |
- | Turkish | Reduced NK cell number | ARPC1B deficiency | PMID:30254128 [Fam.F:II.1(P6)] |
101884 | M | 212237![]() |
- | Sudanese | Reduced NK cell number | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.3(A.II.3)] |
101975 | F | 214053![]() |
35 | Turkish | Reduced NK cell number | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.2(D.II.1)]; PMID:34390440 [HIES53]; PMID:31980991 [Case] |
102141 | F | 214393![]() |
24 | North American | Reduced NK cell number | Immunodeficiency, common variable, 14 | PMID:27016798 [Patient(III.1)]; PMID:37876937 [Fam.A:III.1(A.1)] |
102142 | M | 214393![]() |
16 | North American | Reduced NK cell number | 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 NK cell number | ARPC1B deficiency | PMID:33679784 [II-6(II.6)]; PMID:35767111 [P7] |
102419 | M | 214948![]() |
- | Irish Traveller | Reduced NK cell number | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.8(P1)]; PMID:22354167 [Fam.A:IV.8(P1.1)] |
102433 | M | 214951![]() |
- | Irish Traveller | Reduced NK cell number | Immunodeficiency 54 | PMID:22354167 [Fam.B:II.1(P2.1)] |
102439 | M | 214956![]() |
38 | Bulgarian | Reduced NK cell number | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:II.2(P6)] |
102449 | F | 214958![]() |
27 | Mexican/Salvadoran | Reduced NK cell number | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.E:II.1(P9)] |
102507 | F | 214948![]() |
- | Irish Traveller | Reduced NK cell number | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.9(P2)]; PMID:22354167 [Fam.A:IV.10(P1.2)] |
102509 | M | 214948![]() |
- | Irish Traveller | Reduced NK cell number | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.12(P3)]; PMID:22354167 [Fam.A:IV.12(P1.3)] |
102511 | M | 214948![]() |
- | Irish Traveller | Reduced NK cell number | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.14(P4)]; PMID:22354167 [Fam.A:IV.14(P1.4)] |
102512 | F | 214948![]() |
- | Irish Traveller | Reduced NK cell number | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.15]; PMID:22354167 [Fam.A:IV.15(P1.5)] |
102523 | M | 214965![]() |
- | Irish Traveller | Reduced NK cell number | Immunodeficiency 54 | PMID:22354170 [Fam.C:II.1(P1)] |
102555 | F | 214967![]() |
- | Irish Traveller | Reduced NK cell number | Immunodeficiency 54 | PMID:22354170 [Fam.B:II.4(P6)] |
102572 | F | 214967![]() |
- | Irish Traveller | Reduced NK cell number | Immunodeficiency 54 | PMID:22354170 [Fam.B:II.12(P8)] |
102573 | M | 214967![]() |
- | Irish Traveller | Reduced NK cell number | Immunodeficiency 54 | PMID:22354170 [Fam.B:II.13(P7)] |
102578 | F | 214968![]() |
- | Irish Traveller | Reduced NK cell number | Immunodeficiency 54 | PMID:22354170 [Fam.A:IV.3(P5)] |
102621 | F | 214968![]() |
- | Irish Traveller | Reduced NK cell number | Immunodeficiency 54 | PMID:22354170 [Fam.A:V.2(P3)] |
102625 | M | 214968![]() |
- | Irish Traveller | Reduced NK cell number | Immunodeficiency 54 | PMID:22354170 [Fam.A:V.6(P4)] |
102716 | M | 214977![]() |
- | Irish Traveller | Reduced NK cell number | Immunodeficiency 54 | PMID:22499342 [Fam.1:IV.9(IV:9)] |
102717 | F | 214977![]() |
- | Irish Traveller | Reduced NK cell number | Immunodeficiency 54 | PMID:22499342 [Fam.1:IV.10(IV:10)] |
102769 | M | 214985![]() |
23 | Moroccan | Reduced NK cell number | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.A:II.2(P2)] |
102774 | F | 214985![]() |
16 | Moroccan | Reduced NK cell number | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.A:II.4(P3)] |
102775 | F | 214986![]() |
47 | Afro-Caribbean | Reduced NK cell number | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.B:II.5(P4)] |
102782 | F | 214987![]() |
14 | Iranian | Reduced NK cell number | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.C:II.2(P5)] |
102786 | F | 214988![]() |
23 | Turkish | Reduced NK cell number | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.D:II.1(P6)] |
102792 | M | 214989![]() |
24 | Turkish | Reduced NK cell number | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.E:II.1(P7)] |
102897 | M | 215007![]() |
0 | Turkish | Reduced NK cell number | 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![]() |
1 | Turkish | Reduced NK cell number | 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 NK cell number | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P1]; PMID:37419334 [P1(22)] | |
102927 | M | 215028 | - | Reduced NK cell number | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P16]; PMID:37419334 [P16(22)] | |
102962 | F | 215058![]() |
1 | North American | Reduced NK cell number | T-cell immunodeficiency with thymic aplasia | PMID:31566583 [P1(II.1)]; PMID:37419334 [P1] |
102972 | U | 215064 | 1 | North American | Reduced NK cell number | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P7]; PMID:37419334 [P7] |
102974 | U | 215066 | 2 | North American | Reduced NK cell number | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P9]; PMID:37419334 [P9] |
102984 | F | 215074![]() |
- | European/American | Reduced NK cell number | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
102987 | F | 215075![]() |
14 | Austrian | Reduced NK cell number | Immunodeficiency 97 | PMID:33054089 [Patient(II.1)] |
103292 | F | 215114 | 35 | German | Reduced NK cell number | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P5] |
103293 | M | 215115 | 44 | Reduced NK cell number | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P6] | |
103466 | M | 215133![]() |
- | Irish Traveller | Reduced NK cell number | Immunodeficiency 54 | PMID:22499342 [Fam.3:II.1(II:1)] |
103473 | F | 215134![]() |
- | French | Reduced NK cell number | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.1(P1)]; PMID:14702466 [Fam.1:II.1(P1)] |
103477 | F | 215134![]() |
- | French | Reduced NK cell number | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.3(P2)]; PMID:14702466 [Fam.1:II.3(P2)] |
103478 | M | 215135![]() |
- | French | Reduced NK cell number | Immunodeficiency 55 | PMID:28414293 [Fam.B:II.1(P3)] |
103482 | F | 215136![]() |
- | British | Reduced NK cell number | Immunodeficiency 55 | PMID:28414293 [Fam.C:II.1(P4)] |
103485 | F | 215137![]() |
7 | French | Reduced NK cell number | Immunodeficiency 55 | PMID:28414293 [Fam.D:II.1(P5)] |
103877 | F | 215266![]() |
12 | Finnish | Reduced NK cell number | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2] |
103880 | F | 215269![]() |
- | Finnish | Reduced NK cell number | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
104274 | F | 215445![]() |
27 | Dutch | Reduced NK cell number | Hyper-IgE recurrent infection syndrome 1 | PMID:19878510 [Fam.1:III.1(V1)]; PMID:12572706 [Fam.1:III.2(III.1)] |
104414 | M | 215526![]() |
10 | Turkish | Reduced NK cell number | Early-onset atopic inflammation | PMID:36758835 [Patient(V.3)] |
104533 | M | 215545![]() |
- | Caucasian | Reduced NK cell number | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.B:II.1(Patient B)] |
104538 | M | 215547![]() |
- | Reunionese | Reduced NK cell number | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.D:II.2(Patient D2)] |
104540 | M | 215549![]() |
- | North African | Reduced NK cell number | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.F:II.1(Patient F)] |
105034 | F | 215628![]() |
- | Finnish | Reduced NK cell number | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25349174 [Fam.3:II.1(Patient 3)] |
105043 | F | 215630![]() |
17 | Caucasian | Reduced NK cell number | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))] |
105046 | M | 215632![]() |
- | Reduced NK cell number | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Fam.1:II.1(Patient 1)] | |
105088 | M | 215638 | 24 | Japanese | Reduced NK cell number | 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 NK cell number | NFKB1 insufficiency | PMID:27379089 [P3]; PMID:32278790 [U.I.3]; PMID:29403474 [Patient 3 (10)]; PMID:150198 [Fam.AH:145] | |
105112 | F | 215646 | - | Reduced NK cell number | NFKB1 insufficiency | PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147] | |
105129 | M | 215647![]() |
- | Reduced NK cell number | 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)] | |
105130 | F | 215647![]() |
- | Reduced NK cell number | NFKB1 insufficiency | PMID:27379089 [Fam.1:c2(P2)]; PMID:32278790 [Fam.BA:II.2(II.2)]; PMID:29403474 [Fam.(10):c2(Patient 2)]; PMID:150198 [Fam.AG:IV.2(144)] | |
105172 | M | 215659 | 14 | Caucasian | Reduced NK cell number | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.T:II.1(T.II.1 (48))]; PMID:27102614 [Fam.A:II.1(1)] |
105177 | M | 215661 | 16 | Caucasian | Reduced NK cell number | 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)] |
105204 | M | 215670![]() |
- | Reduced NK cell number | T-negative/B-positive SCID type 1 | PMID:7659163 [Fam.1:II.1(G.M.)] | |
105276 | F | 215684![]() |
1 | Saudi | Reduced NK cell number | Autoinflammation, panniculitis, and dermatosis syndrome 2 | PMID:38914362 [Fam.O:II.1(113)]; PMID:38630025 [Fam.2:II.1(Patient 2)] |
105279 | F | 215685![]() |
- | European | Reduced NK cell number | NFKB1 insufficiency | PMID:32278790 [Fam.B:II.1(II.1)]; PMID:29477724 [Fam.B:II.1(II:1)]; PMID:150198 [Fam.AV:II.1(244)] |
105280 | M | 215685![]() |
- | European | Reduced NK cell number | NFKB1 insufficiency | PMID:32278790 [Fam.B:I.1(I.1)]; PMID:29477724 [Fam.B:I.1(I:1)]; PMID:150198 [Fam.AV:I.1(242)] |
105301 | M | 215686![]() |
- | European | Reduced NK cell number | 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)] |
105317 | M | 215692![]() |
- | European | Reduced NK cell number | NFKB1 insufficiency | PMID:32278790 [Fam.J:III.2(III.2)]; PMID:29477724 [Fam.J:III.2(III:2)]; PMID:150198 [Fam.BD:III.2(277)] |
105332 | U | 215694 | - | European | Reduced NK cell number | NFKB1 insufficiency | PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285] |
105334 | F | 215696 | - | Indian | Reduced NK cell number | NFKB1 insufficiency | PMID:32278790 [O.II.1]; PMID:29477724 [Fam.O:II.1(II:1)]; PMID:150198 [Fam.BI:287] |
105338 | U | 215700 | - | European | Reduced NK cell number | 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 NK cell number | 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)] |
105423 | M | 215765![]() |
3 | Caucasian | Reduced NK cell number | NFKB1 insufficiency | PMID:150198 [Fam.BO:II.2(308)]; PMID:30761159 [Fam.1:II.2(patient)] |
105433 | F | 215768![]() |
- | Danish | Reduced NK cell number | NFKB1 insufficiency | PMID:32278790 [AQ.I.1]; PMID:150198 [Fam.BX:II.2(359)]; PMID:32047491 [P2(I.1)]; PMID:36105815 [N323Y] |
105507 | M | 215784![]() |
- | Caucasian | Reduced NK cell number | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.D:I.1(D.I.1)] |
105509 | M | 215784![]() |
- | Caucasian | Reduced NK cell number | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.D:II.1(D.II.1)] |
105529 | M | 215789 | - | Reduced NK cell number | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:27379089 [P7] | |
105530 | F | 215790 | - | Reduced NK cell number | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:27379089 [P8] | |
105533 | M | 215791 | 44 | Portuguese | Reduced NK cell number | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient(I.1)] |
105537 | M | 215793 | 18 | Reduced NK cell number | Activated p110-delta syndrome 1 | PMID:24698326 [P1] | |
105549 | F | 215801 | 12 | Caucasian | Reduced NK cell number | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29200144 [Fam.A:IV.1(P1)] |
105571 | U | 215810 | 5 | Reduced NK cell number | Activated p110-delta syndrome 1 | PMID:24698326 [P3] | |
105576 | U | 215815 | - | Reduced NK cell number | Activated p110-delta syndrome 1 | PMID:24698326 [P8] | |
105934 | M | 215910![]() |
- | Reduced NK cell number | T-negative/B-positive SCID type 1 | PMID:7659163 [Fam.2:II.1(C.M.)]; PMID:8676091 [Fam.1:II.1(C.M.)] | |
106223 | M | 215976![]() |
44 | Finnish | Reduced NK cell number | NFKB1 insufficiency | PMID:150198 [Fam.FN:II.1(710)]; PMID:36356849 [Fam.4:II.1(F4:II:1)]; PMID:38593810 [Fam.3:II.1(F3.II-1)] |
106304 | M | 215981![]() |
54 | Chinese (China) | Reduced NK cell number | NFKB1 insufficiency | PMID:150198 [Fam.FO:II.5(717)]; PMID:36571238 [Fam.1:II.5(II:5[P1])] |
106363 | F | 216001![]() |
3 | Argentinian | Reduced NK cell number | Immunodeficiency 117 | PMID:36736301 [Fam.A:II.1(P1)] |
106367 | F | 216003![]() |
- | Turkish | Reduced NK cell number | Immunodeficiency 117 | PMID:36736301 [Fam.B:II.1(P2)] |
106371 | M | 216004 | 17 | Reduced NK cell number | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29375547 [Fam.A:II.1(A.II.1)]; PMID:31396201 [P2(II.1)] | |
106393 | F | 216006![]() |
20 | German | Reduced NK cell number | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [III.3(III.3)] |
106409 | M | 216010![]() |
42 | Chinese (China) | Reduced NK cell number | NFKB1 insufficiency | PMID:150198 [Fam.FT:II.2(741)]; PMID:37775675 [Fam.1:II.2(patient)] |
106445 | M | 216015![]() |
- | Reduced NK cell number | NFKB1 insufficiency | PMID:150198 [Fam.FU:III.2(763)]; PMID:38130541 [Fam.1:III.2(P2)] | |
106807 | F | 216145![]() |
16 | German | Reduced NK cell number | Immunodeficiency, common variable, 14 | PMID:34619682 [P.159]; PMID:39059757 [Fam.1:II.1(P1)] |
106812 | F | 216158 | 31 | Reduced NK cell number | Immunodeficiency, common variable, 14 | PMID:39059757 [P4] | |
106819 | M | 216163![]() |
54 | Chinese (China) | Reduced NK cell number | Immunodeficiency, common variable, 1 | PMID:36571238 [Fam.2:II.2(II:2[P3])] |
106939 | M | 216189![]() |
- | Caucasian | Reduced NK cell number | NFKB1 insufficiency | PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)] |
107103 | M | 216335![]() |
- | Chinese (China) | Reduced NK cell number | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt1(II.2)] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).