MCID: NKC002
MIFTS: 31

Nk Cell Deficiency

Categories: Immune diseases

Aliases & Classifications for Nk Cell Deficiency

MalaCards integrated aliases for Nk Cell Deficiency:

Name: Nk Cell Deficiency 12 15
Nk Cell Defects 36

Classifications:



External Ids:

Disease Ontology 12 DOID:0080709
KEGG 36 H00090

Summaries for Nk Cell Deficiency

KEGG : 36 A patient with a mutation in CD16, also known as FcgRIIIa, has been identified. He was a 3-year-old boy, and suffered from recurrent viral respiratory tract infections since birth. CD16 is part of the FcgRIII found on NK cells as well as macrophages and some T cells. The receptor allows NK cells to phagocytose organisms or cells coated with IgG in the absence of MHC (antibody-dependent cellular cytotoxicity). The mutation disrupts NK cell function and is associated with NK cytopenia. The patient also had severe clinical problems after BCG vaccination.

MalaCards based summary : Nk Cell Deficiency, also known as nk cell defects, is related to immunodeficiency 54 and neutropenia. An important gene associated with Nk Cell Deficiency is GINS1 (GINS Complex Subunit 1), and among its related pathways/superpathways are Natural killer cell mediated cytotoxicity and Innate Immune System. Affiliated tissues include nk cells, t cells and bone marrow, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood.

Related Diseases for Nk Cell Deficiency

Diseases related to Nk Cell Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 54 30.6 PRF1 NCR1 NCAM1 MCM4 KLRK1 KLRD1
2 neutropenia 30.1 IL2 GINS1 FCGR3B FCGR3A
3 immunodeficiency 21 29.9 NCAM1 MCM4 GINS1 GATA2
4 immunodeficiency 20 29.8 MCM4 FCGR3B FCGR3A
5 immunodeficiency 55 11.4
6 monocyte, dendritic cell, and nk cell deficiency 11.3
7 t cell, b cell, and nk cell deficiency 11.2
8 immunodeficiency 32b 11.1
9 immunodeficiency 64 11.1
10 jak3-deficient severe combined immunodeficiency 10.3 IL2 IL15
11 immunodeficiency 63 with lymphoproliferation and autoimmunity 10.3 IL2 IL15
12 nasal type extranodal nk/t-cell lymphoma 10.3 KLRD1 KLRC1
13 maxillary sinus adenoid cystic carcinoma 10.2 KLRC2 IL2
14 immunodeficiency 41 with lymphoproliferation and autoimmunity 10.2 IL2 IL15
15 lethal midline granuloma 10.2 PRF1 NCAM1
16 microscopic polyangiitis 10.2 FCGR3B FCGR3A
17 oral tuberculosis 10.2 PRF1 IL2
18 nasal cavity lymphoma 10.2 PRF1 NCAM1
19 refractory celiac disease 10.2 IL15 CD226
20 transient neonatal neutropenia 10.2 FCGR3B FCGR3A
21 sezary's disease 10.2 NCAM1 IL2 IL15
22 oxirane allergy 10.1 FCGR3B FCGR3A
23 herpetic whitlow 10.1 FCGR3B FCGR3A
24 ceftazidime allergy 10.1 KLRD1 KLRC2 IL15
25 acquired immunodeficiency syndrome 10.1 IL2 IL15 FCGR3A
26 coccidiosis 10.1 PRF1 IL2 IL15
27 chickenpox 10.1 PRF1 IL2 FCGR3A
28 lymphopenia 10.1
29 anauxetic dysplasia 1 10.1 FCGR3B FCGR3A
30 selective igg deficiency disease 10.1 NCAM1 FCGR3B FCGR3A
31 mosaic variegated aneuploidy syndrome 2 10.1 NCAM1 FCGR3B FCGR3A
32 mycosis fungoides 10.1 NCAM1 IL2 IL15
33 primary bacterial infectious disease 10.1 PRF1 IL2 IL15
34 alopecia universalis congenita 10.1 KLRK1 IL2
35 trichothiodystrophy 5, nonphotosensitive 10.1 FCGR3B FCGR3A
36 lymphoproliferative syndrome 1 10.1 PRF1 NCAM1
37 pfeiffer syndrome 10.0 PRF1 IL2 IL15
38 t-cell large granular lymphocyte leukemia 10.0 NCAM1 KLRK1 KLRD1 IL2
39 recurrent respiratory papillomatosis 10.0 KIR3DL1 IL2
40 blood coagulation disease 9.9 NCAM1 IL2 FCGR3A
41 aggressive nk-cell leukemia 9.9 NCAM1 KLRD1 FCGR3B FCGR3A
42 pigmentary disorder, reticulate, with systemic manifestations, x-linked 9.9
43 lymphoma, non-hodgkin, familial 9.9 PRF1 NCAM1 IL2 IL15 FCGR3A
44 atherosclerosis susceptibility 9.9
45 otitis media 9.9
46 aging 9.9
47 cd40 ligand deficiency 9.9
48 paroxysmal nocturnal hemoglobinuria 9.9
49 bronchopneumonia 9.9
50 pharyngitis 9.9

Graphical network of the top 20 diseases related to Nk Cell Deficiency:



Diseases related to Nk Cell Deficiency

Symptoms & Phenotypes for Nk Cell Deficiency

GenomeRNAi Phenotypes related to Nk Cell Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.28 NCAM1
2 Decreased viability GR00249-S 9.28 FCGR3A
3 Decreased viability GR00381-A-1 9.28 NCR1 NCR3
4 Decreased viability GR00386-A-1 9.28 GATA2 GINS4
5 Decreased viability GR00402-S-2 9.28 FCGR3A IL2 KLRD1

Drugs & Therapeutics for Nk Cell Deficiency

Search Clinical Trials , NIH Clinical Center for Nk Cell Deficiency

Genetic Tests for Nk Cell Deficiency

Anatomical Context for Nk Cell Deficiency

MalaCards organs/tissues related to Nk Cell Deficiency:

40
Nk Cells, T Cells, Bone Marrow, Myeloid, Kidney, Brain, Heart

Publications for Nk Cell Deficiency

Articles related to Nk Cell Deficiency:

(show top 50) (show all 114)
# Title Authors PMID Year
1
Astragaloside IV suppresses post-ischemic natural killer cell infiltration and activation in the brain: involvement of histone deacetylase inhibition. 61
33369712 2021
2
IL2RG-deficient minipigs generated via CRISPR/Cas9 technology support the growth of human melanoma-derived tumours. 61
32871045 2020
3
Human NK cell deficiency as a result of biallelic mutations in MCM10. 61
32865517 2020
4
Human NK cells prime inflammatory DC precursors to induce Tc17 differentiation. 61
32841340 2020
5
Blood natural killer cell deficiency reveals an immunotherapy strategy for atopic dermatitis. 61
32102931 2020
6
Human signal transducer and activator of transcription 5b (STAT5b) mutation causes dysregulated human natural killer cell maturation and impaired lytic function. 61
31600547 2020
7
How I Manage Natural Killer Cell Deficiency. 61
31754930 2020
8
T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features. 61
32922396 2020
9
NK cell defects in X-linked pigmentary reticulate disorder. 61
31672938 2019
10
Natural Killer Cell Therapy: A New Treatment Paradigm for Solid Tumors. 61
31614472 2019
11
Emerging insights into human health and NK cell biology from the study of NK cell deficiencies. 61
30565241 2019
12
Defective Localization With Impaired Tumor Cytotoxicity Contributes to the Immune Escape of NK Cells in Pancreatic Cancer Patients. 61
31024520 2019
13
The Impact of Immunodeficiency on NK Cell Maturation and Function. 61
30661124 2019
14
The light at the end of the tunnel: an unusual case of acute kidney injury in a pediatric patient: Answers. 61
29523959 2018
15
Transcription Factor IRF8 Orchestrates the Adaptive Natural Killer Cell Response. 61
29858012 2018
16
Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations. 61
29111217 2018
17
Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency. 61
29882021 2018
18
Progressive severe B cell and NK cell deficiency with T cell senescence in adult CD40L deficiency. 61
29476811 2018
19
The first reported case of concurrent trimethoprim-sulfamethoxazole-induced immune hemolytic anemia and thrombocytopenia. 61
28905389 2017
20
Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy. 61
28780374 2017
21
Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study. 61
28512785 2017
22
Azathioprine-Associated Complete NK Cell Deficiency. 61
28639167 2017
23
A Flow Cytometry-Based Cytotoxicity Assay for the Assessment of Human NK Cell Activity. 61
28829424 2017
24
NKp30 expression is a prognostic immune biomarker for stratification of patients with intermediate-risk acute myeloid leukemia. 61
28548938 2017
25
Tumor-Derived α-Fetoprotein Directly Drives Human Natural Killer-Cell Activation and Subsequent Cell Death. 61
28468916 2017
26
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. 61
28414293 2017
27
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms. 61
28202457 2017
28
Biallelic IRF8 Mutations Causing NK Cell Deficiency. 61
28162909 2017
29
Cell cycle progression dictates the requirement for BCL2 in natural killer cell survival. 61
28057804 2017
30
Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients. 61
28747912 2017
31
Biallelic mutations in IRF8 impair human NK cell maturation and function. 61
27893462 2017
32
Natural killer-cell deficiency alters placental development in rats. 61
28395334 2017
33
Requirements for human natural killer cell development informed by primary immunodeficiency. 61
27749362 2016
34
NK cell effector functions in a Chédiak-Higashi patient undergoing cord blood transplantation: Effects of in vitro treatment with IL-2. 61
27816481 2016
35
NK Cells in HIV Disease. 61
27002078 2016
36
Underground Adaptation to a Hostile Environment: Acute Myeloid Leukemia vs. Natural Killer Cells. 61
27014273 2016
37
Combined B, T and NK Cell Deficiency Accelerates Atherosclerosis in BALB/c Mice. 61
27564380 2016
38
Genetic Causes of Human NK Cell Deficiency and Their Effect on NK Cell Subsets. 61
27994588 2016
39
Natural Killer Lymphocytes Are Dysfunctional in Kidney Transplant Recipients on Diagnosis of Cancer. 61
26798861 2015
40
Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings. 61
25814141 2015
41
Natural killer (NK) cell function in paroxysmal nocturnal hemoglobinuria: a deficiency of NK cells, but not an NK cell deficiency. 61
25700426 2015
42
Reprint of: Recent advances in cytomegalovirus: an update on pharmacologic and cellular therapies. 61
25620648 2015
43
Recent advances in cytomegalovirus: an update on pharmacologic and cellular therapies. 61
25452035 2015
44
NK cell tolerance as the final endorsement of prenatal tolerance after in utero hematopoietic cellular transplantation. 61
25852555 2015
45
GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia. 61
25359990 2015
46
Increased NK Cell Maturation in Patients with Acute Myeloid Leukemia. 61
26594214 2015
47
Human lymphoid development in the absence of common γ-chain receptor signaling. 61
24771849 2014
48
Effect of age and CMV on NK cell subpopulations. 61
24440462 2014
49
Primary selective IgM deficiency: an ignored immunodeficiency. 61
23760686 2014
50
Idiopathic CD4 lymphocytopenia: clinical and immunologic characteristics and follow-up of 40 patients. 61
24646462 2014

Variations for Nk Cell Deficiency

Expression for Nk Cell Deficiency

Search GEO for disease gene expression data for Nk Cell Deficiency.

Pathways for Nk Cell Deficiency

Pathways related to Nk Cell Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Natural killer cell mediated cytotoxicity hsa04650

GO Terms for Nk Cell Deficiency

Cellular components related to Nk Cell Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.13 PRF1 NCR3 NCR2 NCR1 NCAM1 KLRK1
2 plasma membrane GO:0005886 10.07 PRF1 NCR3 NCR2 NCR1 NCAM1 KLRK1
3 cell surface GO:0009986 9.77 NCR2 NCAM1 KLRK1 IL15 CD226
4 integral component of plasma membrane GO:0005887 9.7 NCR3 NCR2 NCR1 KLRK1 KLRD1 KLRC2
5 GINS complex GO:0000811 9.33 GINS4 GINS3 GINS1
6 CMG complex GO:0071162 8.92 MCM4 GINS4 GINS3 GINS1

Biological processes related to Nk Cell Deficiency according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.88 NCR3 KIR3DL1 IL2 IL15 FCGR3B FCGR3A
2 cell surface receptor signaling pathway GO:0007166 9.86 KLRD1 KLRC1 FCGR3B FCGR3A
3 DNA replication GO:0006260 9.73 MCM4 GINS4 GINS3 GINS1
4 cellular defense response GO:0006968 9.62 PRF1 NCR2 NCR1 KLRC2
5 natural killer cell mediated cytotoxicity GO:0042267 9.58 KLRK1 KIR3DL1
6 positive regulation of interleukin-17 production GO:0032740 9.57 IL2 IL15
7 natural killer cell activation GO:0030101 9.56 NCR3 NCR1 KLRK1 IL2
8 inner cell mass cell proliferation GO:0001833 9.55 GINS4 GINS1
9 negative regulation of natural killer cell mediated cytotoxicity GO:0045953 9.54 KLRD1 KLRC1
10 double-strand break repair via break-induced replication GO:0000727 9.52 MCM4 GINS4
11 cell recognition GO:0008037 9.51 NCR3 CD226
12 negative regulation of T cell mediated cytotoxicity GO:0001915 9.49 KLRD1 KLRC1
13 mitotic DNA replication initiation GO:1902975 9.48 MCM4 GINS3
14 positive regulation of tissue remodeling GO:0034105 9.46 IL2 IL15
15 DNA strand elongation involved in DNA replication GO:0006271 9.46 MCM4 GINS4 GINS3 GINS1
16 natural killer cell mediated immunity GO:0002228 9.37 KLRD1 KLRC2
17 positive regulation of natural killer cell mediated cytotoxicity GO:0045954 9.35 NCR3 KLRK1 KLRD1 KLRC2 CD226
18 regulation of immune response GO:0050776 9.32 NCR3 NCR2 NCR1 KLRK1 KLRD1 KLRC1

Molecular functions related to Nk Cell Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate binding GO:0030246 9.65 KLRK1 KLRD1 KLRC2 KLRC1 IL2
2 transmembrane signaling receptor activity GO:0004888 9.43 NCR2 KLRD1 KLRC2 KLRC1 FCGR3B FCGR3A
3 protein antigen binding GO:1990405 9.33 KLRD1 KLRC2 KLRC1
4 IgG binding GO:0019864 9.32 FCGR3B FCGR3A
5 MHC class I protein complex binding GO:0023024 8.8 KLRD1 KLRC2 KLRC1

Sources for Nk Cell Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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