IMD62
MCID: IMM200
MIFTS: 19
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Immunodeficiency 62 (IMD62)
Categories:
Cardiovascular diseases, Genetic diseases, Immune diseases, Respiratory diseases
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MalaCards integrated aliases for Immunodeficiency 62:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in the first decade two sisters from 1 family have been reported (last curated june 2019) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Anatomical: Immune diseases Respiratory diseases Cardiovascular diseases |
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) (Updated 05-Mar-2021)
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, and related phenotypes are bronchiectasis and autoimmune thrombocytopenia Disease Ontology : 12 A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has material basis in homozygous or compound heterozygous mutation in ARHGEF1 on chromosome 19q13.2. 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. |
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Human phenotypes related to Immunodeficiency 62:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618459 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Immunodeficiency 62:40
B Cells
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Articles related to Immunodeficiency 62:
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ClinVar genetic disease variations for Immunodeficiency 62:6
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Search
GEO
for disease gene expression data for Immunodeficiency 62.
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