|
IMD62
MCID: IMM200
MIFTS: 16
|
Immunodeficiency 62 (IMD62)
Categories:
Genetic diseases, Immune diseases
|
|
|
|
MalaCards integrated aliases for Immunodeficiency 62:
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: |
|
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. |
|
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:618459 |
|
|
MalaCards organs/tissues related to Immunodeficiency 62:41
B Cells,
T Cells,
Lymph Node
|
Articles related to Immunodeficiency 62:
|
Genes related to Immunodeficiency 62 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Immunodeficiency 62:6
|
|
Search
GEO
for disease gene expression data for Immunodeficiency 62.
|
|
|
|