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

PARENT terms
TERM

Reduced NK cell number

CHILD terms

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 210205tree icon - 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 212619tree icon - 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 212624tree icon - Turkish Reduced NK cell number ARPC1B deficiency PMID:30254128 [Fam.F:II.1(P6)]
101884 M 212237tree icon - Sudanese Reduced NK cell number Hyper-IgE recurrent infection syndrome 3 PMID:29907690 [Fam.A:III.3(A.II.3)]
101975 F 214053tree icon 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 214393tree icon 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 214393tree icon 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 214924tree icon 1 Afghanistani Reduced NK cell number ARPC1B deficiency PMID:33679784 [II-6(II.6)]; PMID:35767111 [P7]
102419 M 214948tree icon - 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 214951tree icon - Irish Traveller Reduced NK cell number Immunodeficiency 54 PMID:22354167 [Fam.B:II.1(P2.1)]
102439 M 214956tree icon 38 Bulgarian Reduced NK cell number Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.C:II.2(P6)]
102449 F 214958tree icon 27 Mexican/Salvadoran Reduced NK cell number Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.E:II.1(P9)]
102507 F 214948tree icon - 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 214948tree icon - 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 214948tree icon - 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 214948tree icon - Irish Traveller Reduced NK cell number Immunodeficiency 54 PMID:16532402 [Fam.A:IV.15]; PMID:22354167 [Fam.A:IV.15(P1.5)]
102523 M 214965tree icon - Irish Traveller Reduced NK cell number Immunodeficiency 54 PMID:22354170 [Fam.C:II.1(P1)]
102555 F 214967tree icon - Irish Traveller Reduced NK cell number Immunodeficiency 54 PMID:22354170 [Fam.B:II.4(P6)]
102572 F 214967tree icon - Irish Traveller Reduced NK cell number Immunodeficiency 54 PMID:22354170 [Fam.B:II.12(P8)]
102573 M 214967tree icon - Irish Traveller Reduced NK cell number Immunodeficiency 54 PMID:22354170 [Fam.B:II.13(P7)]
102578 F 214968tree icon - Irish Traveller Reduced NK cell number Immunodeficiency 54 PMID:22354170 [Fam.A:IV.3(P5)]
102621 F 214968tree icon - Irish Traveller Reduced NK cell number Immunodeficiency 54 PMID:22354170 [Fam.A:V.2(P3)]
102625 M 214968tree icon - Irish Traveller Reduced NK cell number Immunodeficiency 54 PMID:22354170 [Fam.A:V.6(P4)]
102716 M 214977tree icon - Irish Traveller Reduced NK cell number Immunodeficiency 54 PMID:22499342 [Fam.1:IV.9(IV:9)]
102717 F 214977tree icon - Irish Traveller Reduced NK cell number Immunodeficiency 54 PMID:22499342 [Fam.1:IV.10(IV:10)]
102769 M 214985tree icon 23 Moroccan Reduced NK cell number Hyper-IgE recurrent infection syndrome 3 PMID:29907691 [Fam.A:II.2(P2)]
102774 F 214985tree icon 16 Moroccan Reduced NK cell number Hyper-IgE recurrent infection syndrome 3 PMID:29907691 [Fam.A:II.4(P3)]
102775 F 214986tree icon 47 Afro-Caribbean Reduced NK cell number Hyper-IgE recurrent infection syndrome 3 PMID:29907691 [Fam.B:II.5(P4)]
102782 F 214987tree icon 14 Iranian Reduced NK cell number Hyper-IgE recurrent infection syndrome 3 PMID:29907691 [Fam.C:II.2(P5)]
102786 F 214988tree icon 23 Turkish Reduced NK cell number Hyper-IgE recurrent infection syndrome 3 PMID:29907691 [Fam.D:II.1(P6)]
102792 M 214989tree icon 24 Turkish Reduced NK cell number Hyper-IgE recurrent infection syndrome 3 PMID:29907691 [Fam.E:II.1(P7)]
102897 M 215007tree icon 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 215007tree icon 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 215058tree icon 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 215074tree icon - European/American Reduced NK cell number Immunodeficiency 97 PMID:31554793 [A.1(II.1)]
102987 F 215075tree icon 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 215133tree icon - Irish Traveller Reduced NK cell number Immunodeficiency 54 PMID:22499342 [Fam.3:II.1(II:1)]
103473 F 215134tree icon - French Reduced NK cell number Immunodeficiency 55 PMID:28414293 [Fam.A:II.1(P1)]; PMID:14702466 [Fam.1:II.1(P1)]
103477 F 215134tree icon - French Reduced NK cell number Immunodeficiency 55 PMID:28414293 [Fam.A:II.3(P2)]; PMID:14702466 [Fam.1:II.3(P2)]
103478 M 215135tree icon - French Reduced NK cell number Immunodeficiency 55 PMID:28414293 [Fam.B:II.1(P3)]
103482 F 215136tree icon - British Reduced NK cell number Immunodeficiency 55 PMID:28414293 [Fam.C:II.1(P4)]
103485 F 215137tree icon 7 French Reduced NK cell number Immunodeficiency 55 PMID:28414293 [Fam.D:II.1(P5)]
103877 F 215266tree icon 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 215269tree icon - Finnish Reduced NK cell number Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)]
104274 F 215445tree icon 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 215526tree icon 10 Turkish Reduced NK cell number Early-onset atopic inflammation PMID:36758835 [Patient(V.3)]
104533 M 215545tree icon - Caucasian Reduced NK cell number X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.B:II.1(Patient B)]
104538 M 215547tree icon - Reunionese Reduced NK cell number X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.D:II.2(Patient D2)]
104540 M 215549tree icon - North African Reduced NK cell number X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.F:II.1(Patient F)]
105034 F 215628tree icon - Finnish Reduced NK cell number Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25349174 [Fam.3:II.1(Patient 3)]
105043 F 215630tree icon 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 215632tree icon - 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 215647tree icon - 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 215647tree icon - 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 215670tree icon - Reduced NK cell number T-negative/B-positive SCID type 1 PMID:7659163 [Fam.1:II.1(G.M.)]
105276 F 215684tree icon 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 215685tree icon - 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 215685tree icon - 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 215686tree icon - 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 215692tree icon - 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 215762tree icon 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 215765tree icon 3 Caucasian Reduced NK cell number NFKB1 insufficiency PMID:150198 [Fam.BO:II.2(308)]; PMID:30761159 [Fam.1:II.2(patient)]
105433 F 215768tree icon - 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 215784tree icon - Caucasian Reduced NK cell number Activated p110-delta syndrome 1 PMID:24165795 [Fam.D:I.1(D.I.1)]
105509 M 215784tree icon - 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 215910tree icon - 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 215976tree icon 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 215981tree icon 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 216001tree icon 3 Argentinian Reduced NK cell number Immunodeficiency 117 PMID:36736301 [Fam.A:II.1(P1)]
106367 F 216003tree icon - 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 216006tree icon 20 German Reduced NK cell number CTLA4 haploinsufficiency with autoimmune infiltration PMID:36273440 [III.3(III.3)]
106409 M 216010tree icon 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 216015tree icon - Reduced NK cell number NFKB1 insufficiency PMID:150198 [Fam.FU:III.2(763)]; PMID:38130541 [Fam.1:III.2(P2)]
106807 F 216145tree icon 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 216163tree icon 54 Chinese (China) Reduced NK cell number Immunodeficiency, common variable, 1 PMID:36571238 [Fam.2:II.2(II:2[P3])]
106939 M 216189tree icon - Caucasian Reduced NK cell number NFKB1 insufficiency PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)]
107103 M 216335tree icon - 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).