IMD62
MCID: IMM200
MIFTS: 19

Immunodeficiency 62 (IMD62)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 62

MalaCards integrated aliases for Immunodeficiency 62:

Name: Immunodeficiency 62 56 73 29 6
Imd62 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
immunodeficiency 62:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 618459
OMIM Phenotypic Series 56 PS300755
MeSH 43 D007153

Summaries for Immunodeficiency 62

OMIM : 56 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, and related phenotypes are bronchiectasis and autoimmune thrombocytopenia

UniProtKB/Swiss-Prot : 73 Immunodeficiency 62: An autosomal recessive, primary immunologic disorder characterized by recurrent severe respiratory tract infections and bronchiectasis, due to antibody deficiency. Affected individuals have an abnormal B cell immunophenotype, with low levels of circulating memory B cells.

Related Diseases for Immunodeficiency 62

Symptoms & Phenotypes for Immunodeficiency 62

Human phenotypes related to Immunodeficiency 62:

31
# Description HPO Frequency HPO Source Accession
1 bronchiectasis 31 HP:0002110
2 autoimmune thrombocytopenia 31 HP:0001973

Symptoms via clinical synopsis from OMIM:

56
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

Anatomical Context for Immunodeficiency 62

MalaCards organs/tissues related to Immunodeficiency 62:

40
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. 6 56
30521495 2019
2
Lsc regulates marginal-zone B cell migration and adhesion and is required for the IgM T-dependent antibody response. 56
16286020 2005

Variations for Immunodeficiency 62

ClinVar genetic disease variations for Immunodeficiency 62:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARHGEF1 NM_004706.4(ARHGEF1):c.853C>T (p.Arg285Ter)SNV Pathogenic 633649 rs1568815169 19:42398710-42398710 19:41894637-41894637
2 ARHGEF1 NM_004706.4(ARHGEF1):c.1624-1G>TSNV Pathogenic 633650 rs1568822574 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 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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