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GENATLAS PHENOTYPE

last update : 13-03-2023

Symbol	IMD87
Location	6p21.31
Name	immunodeficiency 87 and autoimmunity
Corresponding gene	DEF6
Main clinical features	in infancy or early childhood, increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia low or normal lymphocyte numbers, often with skewed T-cell subset ratios: disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

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