MCID: NKD001
MIFTS: 18

Nik Deficiency

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Nik Deficiency

MalaCards integrated aliases for Nik Deficiency:

Name: Nik Deficiency 58 6
Primary Immunodeficiency with Multifaceted Aberrant Lymphoid Immunity 58

Characteristics:

Orphanet epidemiological data:

58
nik deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 33 D81.8
Orphanet 58 ORPHA447731

Summaries for Nik Deficiency

MalaCards based summary : Nik Deficiency, also known as primary immunodeficiency with multifaceted aberrant lymphoid immunity, is related to immune deficiency disease and agammaglobulinemia. An important gene associated with Nik Deficiency is MAP3K14 (Mitogen-Activated Protein Kinase Kinase Kinase 14). Affiliated tissues include b cells, lymph node and liver.

Related Diseases for Nik Deficiency

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

# Related Disease Score Top Affiliating Genes
1 immune deficiency disease 10.2
2 agammaglobulinemia 10.2
3 lymphopenia 10.2

Symptoms & Phenotypes for Nik Deficiency

Drugs & Therapeutics for Nik Deficiency

Search Clinical Trials , NIH Clinical Center for Nik Deficiency

Genetic Tests for Nik Deficiency

Anatomical Context for Nik Deficiency

MalaCards organs/tissues related to Nik Deficiency:

40
B Cells, Lymph Node, Liver, T Cells, Endothelial

Publications for Nik Deficiency

Articles related to Nik Deficiency:

# Title Authors PMID Year
1
Lymphatic endothelial cells regulate B-cell homing to lymph nodes via a NIK-dependent mechanism. 61
29503445 2019
2
NIK signaling axis regulates dendritic cell function in intestinal immunity and homeostasis. 61
30250187 2018
3
Thymic NF-κB-inducing kinase regulates CD4+ T cell-elicited liver injury and fibrosis in mice. 61
28267623 2017
4
NF-κB-inducing kinase is essential for B-cell maintenance in mice. 61
26593098 2016
5
Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity. 61
25406581 2014
6
Regulation of Th17 cell differentiation and EAE induction by MAP3K NIK. 61
19411637 2009

Variations for Nik Deficiency

ClinVar genetic disease variations for Nik Deficiency:

6 (show all 32) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAP3K14 NM_003954.5(MAP3K14):c.1290+5G>ASNV Uncertain significance 544319 rs781259100 17:43362174-43362174 17:45284807-45284807
2 MAP3K14 NM_003954.5(MAP3K14):c.823T>C (p.Trp275Arg)SNV Uncertain significance 544322 rs373635359 17:43364127-43364127 17:45286760-45286760
3 MAP3K14 NM_003954.5(MAP3K14):c.2312A>C (p.Gln771Pro)SNV Uncertain significance 544324 rs148416800 17:43344787-43344787 17:45267420-45267420
4 MAP3K14 NM_003954.5(MAP3K14):c.296G>A (p.Arg99His)SNV Uncertain significance 544320 rs762182665 17:43366632-43366632 17:45289266-45289266
5 MAP3K14 NM_003954.5(MAP3K14):c.2779G>A (p.Ala927Thr)SNV Uncertain significance 575207 rs1567984601 17:43342068-43342068 17:45264701-45264701
6 MAP3K14 NM_003954.5(MAP3K14):c.2433+3G>ASNV Uncertain significance 574281 rs549858466 17:43344456-43344456 17:45267089-45267089
7 MAP3K14 NM_003954.5(MAP3K14):c.643G>A (p.Glu215Lys)SNV Uncertain significance 567727 rs753550438 17:43364306-43364306 17:45286940-45286940
8 MAP3K14 NM_003954.5(MAP3K14):c.1651C>G (p.Leu551Val)SNV Uncertain significance 577425 rs781104363 17:43350876-43350876 17:45273509-45273509
9 MAP3K14 NM_003954.5(MAP3K14):c.115G>A (p.Val39Ile)SNV Uncertain significance 569074 rs571893035 17:43367997-43367997 17:45290631-45290631
10 MAP3K14 NM_003954.5(MAP3K14):c.1720G>A (p.Asp574Asn)SNV Uncertain significance 575824 rs996613711 17:43348526-43348526 17:45271159-45271159
11 MAP3K14 NM_003954.5(MAP3K14):c.1091G>C (p.Gly364Ala)SNV Uncertain significance 647428 17:43363859-43363859 17:45286492-45286492
12 MAP3K14 NM_003954.5(MAP3K14):c.727C>T (p.His243Tyr)SNV Uncertain significance 644812 17:43364223-43364223 17:45286856-45286856
13 MAP3K14 NM_003954.5(MAP3K14):c.668G>A (p.Arg223Gln)SNV Uncertain significance 653318 17:43364282-43364282 17:45286915-45286915
14 MAP3K14 NM_003954.5(MAP3K14):c.656C>T (p.Pro219Leu)SNV Uncertain significance 648534 17:45286927-45286927
15 MAP3K14 NM_003954.5(MAP3K14):c.2668A>G (p.Ile890Val)SNV Uncertain significance 659333 17:43342541-43342541 17:45265174-45265174
16 MAP3K14 NM_003954.5(MAP3K14):c.2615A>G (p.His872Arg)SNV Uncertain significance 660828 17:43342594-43342594 17:45265227-45265227
17 MAP3K14 NM_003954.5(MAP3K14):c.2543G>A (p.Arg848Gln)SNV Uncertain significance 651083 17:43343939-43343939 17:45266572-45266572
18 MAP3K14 NM_003954.5(MAP3K14):c.2405G>C (p.Ser802Thr)SNV Uncertain significance 664708 17:43344487-43344487 17:45267120-45267120
19 MAP3K14 NM_003954.5(MAP3K14):c.2096G>C (p.Gly699Ala)SNV Uncertain significance 665809 17:43345003-43345003 17:45267636-45267636
20 MAP3K14 NM_003954.5(MAP3K14):c.1798T>C (p.Phe600Leu)SNV Uncertain significance 660538 17:43348448-43348448 17:45271081-45271081
21 MAP3K14 NM_003954.5(MAP3K14):c.1794G>C (p.Gln598His)SNV Uncertain significance 641216 17:43348452-43348452 17:45271085-45271085
22 MAP3K14 NM_003954.5(MAP3K14):c.1657G>A (p.Gly553Arg)SNV Uncertain significance 652155 17:43350870-43350870 17:45273503-45273503
23 MAP3K14 NM_003954.5(MAP3K14):c.559G>A (p.Ala187Thr)SNV Uncertain significance 639927 17:43364390-43364390 17:45287024-45287024
24 MAP3K14 NM_003954.5(MAP3K14):c.411G>C (p.Lys137Asn)SNV Uncertain significance 645542 17:43364646-43364646 17:45287280-45287280
25 MAP3K14 NM_003954.5(MAP3K14):c.307G>A (p.Ala103Thr)SNV Uncertain significance 661822 17:43366621-43366621 17:45289255-45289255
26 MAP3K14 NM_003954.5(MAP3K14):c.145C>G (p.Pro49Ala)SNV Uncertain significance 652875 17:43367967-43367967 17:45290601-45290601
27 MAP3K14 NM_003954.5(MAP3K14):c.2679+5G>ASNV Uncertain significance 640273 17:43342525-43342525 17:45265158-45265158
28 MAP3K14 NM_003954.5(MAP3K14):c.1420+4A>GSNV Uncertain significance 643399 17:43351827-43351827 17:45274460-45274460
29 MAP3K14 NM_003954.5(MAP3K14):c.916T>C (p.Cys306Arg)SNV Uncertain significance 544323 rs766805198 17:43364034-43364034 17:45286667-45286667
30 MAP3K14 NM_003954.5(MAP3K14):c.820C>T (p.Pro274Ser)SNV Uncertain significance 544321 rs747466210 17:43364130-43364130 17:45286763-45286763
31 MAP3K14 NM_003954.5(MAP3K14):c.2292C>T (p.Thr764=)SNV Likely benign 544334 rs746706058 17:43344807-43344807 17:45267440-45267440
32 MAP3K14 NM_003954.5(MAP3K14):c.2820T>C (p.His940=)SNV Likely benign 478060 rs751517422 17:43342027-43342027 17:45264660-45264660

Expression for Nik Deficiency

Search GEO for disease gene expression data for Nik Deficiency.

Pathways for Nik Deficiency

GO Terms for Nik Deficiency

Sources for Nik Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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