IMD62
MCID: IMM200
MIFTS: 16

Immunodeficiency 62 (IMD62)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 62

MalaCards integrated aliases for Immunodeficiency 62:

Name: Immunodeficiency 62 57 29 6
Imd62 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first decade
two sisters from 1 family have been reported (last curated june 2019)


Classifications:



External Ids:

Summaries for Immunodeficiency 62

OMIM : 57 Immunodeficiency-62 (IMD62) is an autosomal recessive primary immunologic disorder clinically characterized by onset of recurrent upper and lower respiratory infections late in the first decade of life. Patients may also have increased viral susceptibility to varicella zoster virus (VZV) or herpes simplex virus (HSV). Laboratory studies show impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies. There is also evidence of secondary T-cell dysfunction. The disorder may result from disturbed actin cytoskeleton dynamics causing impaired lymphocyte migration (summary by Bouafia et al., 2019). (618459)

MalaCards based summary : Immunodeficiency 62, is also known as imd62. An important gene associated with Immunodeficiency 62 is ARHGEF1 (Rho Guanine Nucleotide Exchange Factor 1). Affiliated tissues include b cells, t cells and lymph node.

Related Diseases for Immunodeficiency 62

Symptoms & Phenotypes for Immunodeficiency 62

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
bronchiectasis

Respiratory:
recurrent upper and lower respiratory infections

Immunology:
antibody deficiency
increased transitional b cells
lack of antibody response to vaccination
decreased circulating memory b cells
decreased circulating marginal b cells
more
Hematology:
immune thrombocytopenia (in 1 of 2 patients)

Clinical features from OMIM:

618459

Drugs & Therapeutics for Immunodeficiency 62

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 62

Genetic Tests for Immunodeficiency 62

Genetic tests related to Immunodeficiency 62:

# Genetic test Affiliating Genes
1 Immunodeficiency 62 29 ARHGEF1

Anatomical Context for Immunodeficiency 62

MalaCards organs/tissues related to Immunodeficiency 62:

41
B Cells, T Cells, Lymph Node

Publications for Immunodeficiency 62

Articles related to Immunodeficiency 62:

# Title Authors PMID Year
1
Loss of ARHGEF1 causes a human primary antibody deficiency. 8 71
30521495 2019
2
Lsc regulates marginal-zone B cell migration and adhesion and is required for the IgM T-dependent antibody response. 8
16286020 2005

Variations for Immunodeficiency 62

ClinVar genetic disease variations for Immunodeficiency 62:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ARHGEF1 NM_004706.4(ARHGEF1): c.853C> T (p.Arg285Ter) single nucleotide variant Pathogenic 19:42398710-42398710 19:41894637-41894637
2 ARHGEF1 NM_004706.4(ARHGEF1): c.1624-1G> T single nucleotide variant Pathogenic 19:42406933-42406933 19:41902783-41902783

Expression for Immunodeficiency 62

Search GEO for disease gene expression data for Immunodeficiency 62.

Pathways for Immunodeficiency 62

GO Terms for Immunodeficiency 62

Sources for Immunodeficiency 62

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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