Immunodeficiency 62 (IMD62)

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Disease Ontology 12 DOID:0111991 OMIM® 57 618459 OMIM Phenotypic Series 57 PS300755 MeSH 44 D007153

MedGen 41 C5193109 CN258820 SNOMED-CT via HPO 68 12295008 128091003 13172003 234490009 258211005 32273002 more UMLS 71 C5193109

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.

Clinical features from OMIM®:

618459 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 62

Search GEO for disease gene expression data for Immunodeficiency 62.