IMD64
MCID: IMM202
MIFTS: 15

Immunodeficiency 64 (IMD64)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 64

MalaCards integrated aliases for Immunodeficiency 64:

Name: Immunodeficiency 64 57 6
Imd64 57

Classifications:



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Summaries for Immunodeficiency 64

OMIM : 57 Immunodeficiency-64 (IMD64) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show variably decreased numbers of T cells, with lesser deficiencies of B and NK cells. There is impaired T-cell proliferation and activation; functional defects in B cells and NK cells may also be observed. Patients have increased susceptibility to EBV infection and may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity (summary by Salzer et al., 2016, Mao et al., 2018, and Winter et al., 2018). (618534)

MalaCards based summary : Immunodeficiency 64, is also known as imd64. An important gene associated with Immunodeficiency 64 is RASGRP1 (RAS Guanyl Releasing Protein 1). Affiliated tissues include t cells, b cells and nk cells.

Related Diseases for Immunodeficiency 64

Symptoms & Phenotypes for Immunodeficiency 64

Clinical features from OMIM:

618534

Drugs & Therapeutics for Immunodeficiency 64

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 64

Genetic Tests for Immunodeficiency 64

Anatomical Context for Immunodeficiency 64

MalaCards organs/tissues related to Immunodeficiency 64:

41
T Cells, B Cells, Nk Cells

Publications for Immunodeficiency 64

Articles related to Immunodeficiency 64:

# Title Authors PMID Year
1
RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease. 8
29155103 2018
2
Loss of RASGRP1 in humans impairs T-cell expansion leading to Epstein-Barr virus susceptibility. 8
29282224 2018
3
Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1. 8
28822832 2017
4
RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics. 8
27776107 2016
5
Chronic immunodeficiency in mice lacking RasGRP1 results in CD4 T cell immune activation and exhaustion. 8
17675473 2007

Variations for Immunodeficiency 64

ClinVar genetic disease variations for Immunodeficiency 64:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RASGRP1 RASGRP1, ARG246TER single nucleotide variant Pathogenic
2 RASGRP1 RASGRP1, TRP257TER single nucleotide variant Pathogenic
3 RASGRP1 RASGRP1, THR214ILE undetermined variant Pathogenic
4 RASGRP1 RASGRP1, LYS322TER undetermined variant Pathogenic
5 RASGRP1 RASGRP1, 2-BP INS, 1910AG insertion Pathogenic

Expression for Immunodeficiency 64

Search GEO for disease gene expression data for Immunodeficiency 64.

Pathways for Immunodeficiency 64

GO Terms for Immunodeficiency 64

Sources for Immunodeficiency 64

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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