IMD64
MCID: IMM202
MIFTS: 25

Immunodeficiency 64 (IMD64)

Categories: Genetic diseases, Immune diseases, Infectious diseases

Aliases & Classifications for Immunodeficiency 64

MalaCards integrated aliases for Immunodeficiency 64:

Name: Immunodeficiency 64 57 12 73 29 6
Imd64 57 12 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in infancy or early childhood


HPO:

31
immunodeficiency 64:
Inheritance autosomal recessive inheritance


Classifications:



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) (Updated 05-Mar-2021)

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 nk cells, t cells and b cells, and related phenotypes are failure to thrive and splenomegaly

Disease Ontology : 12 A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has material basis in homozygous or compound heterozygous mutation in RASGRP1 on chromosome 15q14.

UniProtKB/Swiss-Prot : 73 Immunodeficiency 64: An autosomal recessive primary immunodeficiency characterized by recurrent bacterial, viral and fungal infections, variably decreased numbers of T cells, deficiencies of B and NK cells, and increased susceptibility to Epstein-Barr virus (EBV) infection. Patients may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity.

Related Diseases for Immunodeficiency 64

Symptoms & Phenotypes for Immunodeficiency 64

Human phenotypes related to Immunodeficiency 64:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 splenomegaly 31 very rare (1%) HP:0001744
3 mediastinal lymphadenopathy 31 very rare (1%) HP:0100721
4 hepatosplenomegaly 31 very rare (1%) HP:0001433
5 cervical lymphadenopathy 31 very rare (1%) HP:0025289
6 bronchiectasis 31 very rare (1%) HP:0002110
7 decreased circulating igg level 31 very rare (1%) HP:0004315
8 autoimmune hemolytic anemia 31 very rare (1%) HP:0001890
9 b-cell lymphoma 31 very rare (1%) HP:0012191
10 increased circulating iga level 31 very rare (1%) HP:0003261
11 autoimmune thrombocytopenia 31 very rare (1%) HP:0001973
12 increased circulating igm level 31 very rare (1%) HP:0003496
13 antinuclear antibody positivity 31 very rare (1%) HP:0003493
14 recurrent lower respiratory tract infections 31 very rare (1%) HP:0002783
15 increased circulating igg level 31 very rare (1%) HP:0003237
16 decreased proportion of cd4-positive t cells 31 very rare (1%) HP:0032218
17 clubbing of fingers 31 very rare (1%) HP:0100759
18 anti-thyroid peroxidase antibody positivity 31 very rare (1%) HP:0025379
19 decreased lymphocyte proliferation in response to mitogen 31 very rare (1%) HP:0031381
20 abnormal cd4:cd8 ratio 31 very rare (1%) HP:0031394
21 defective t cell proliferation 31 very rare (1%) HP:0030253
22 increased proportion autoreactive unresponsive cd21-/low b cells 31 very rare (1%) HP:0033207
23 anti-thyroglobulin antibody positivity 31 very rare (1%) HP:0032069

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Immunology:
lymphadenopathy
hypogammaglobulinemia (in some patients)
decreased numbers of t cells
decreased numbers of nk cells
decreased numbers of cd4+ t cells
more
Abdomen Spleen:
splenomegaly

Respiratory:
pneumonia

Neoplasia:
lymphoma, ebv-associated
ebv-positive lymphoproliferative disease
leiomyoma of the adrenal gland (2 unrelated patients)

Clinical features from OMIM®:

618534 (Updated 05-Mar-2021)

Drugs & Therapeutics for Immunodeficiency 64

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 64

Genetic Tests for Immunodeficiency 64

Genetic tests related to Immunodeficiency 64:

# Genetic test Affiliating Genes
1 Immunodeficiency 64 29 RASGRP1

Anatomical Context for Immunodeficiency 64

MalaCards organs/tissues related to Immunodeficiency 64:

40
Nk Cells, T Cells, B Cells, Thyroid, Adrenal Gland

Publications for Immunodeficiency 64

Articles related to Immunodeficiency 64:

# Title Authors PMID Year
1
RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease. 57 6
29155103 2018
2
Loss of RASGRP1 in humans impairs T-cell expansion leading to Epstein-Barr virus susceptibility. 6 57
29282224 2018
3
Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1. 57 6
28822832 2017
4
RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics. 57 6
27776107 2016
5
Chronic immunodeficiency in mice lacking RasGRP1 results in CD4 T cell immune activation and exhaustion. 57
17675473 2007

Variations for Immunodeficiency 64

ClinVar genetic disease variations for Immunodeficiency 64:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RASGRP1 NM_005739.4(RASGRP1):c.736C>T (p.Arg246Ter) SNV Pathogenic 666277 rs1408683294 15:38805097-38805097 15:38512896-38512896
2 RASGRP1 NM_005739.4(RASGRP1):c.771G>A (p.Trp257Ter) SNV Pathogenic 666278 rs1595843113 15:38805062-38805062 15:38512861-38512861
3 RASGRP1 NM_005739.4(RASGRP1):c.641C>T (p.Thr214Ile) SNV Pathogenic 666279 rs1595848141 15:38808432-38808432 15:38516231-38516231
4 RASGRP1 NM_005739.4(RASGRP1):c.964A>T (p.Lys322Ter) SNV Pathogenic 666280 rs779560450 15:38803807-38803807 15:38511606-38511606
5 RASGRP1 NM_005739.4(RASGRP1):c.1910_1911insAG (p.Ala638fs) Insertion Pathogenic 666281 rs1595816926 15:38786931-38786932 15:38494730-38494731
6 RASGRP1 NM_005739.4(RASGRP1):c.1592C>G (p.Ser531Ter) SNV Uncertain significance 982603 15:38793435-38793435 15:38501234-38501234

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 64:

73
# Symbol AA change Variation ID SNP ID
1 RASGRP1 p.Thr214Ile VAR_083338

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
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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