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GENATLAS PHENOTYPE

last update : 06-09-2017

Symbol	IMD37
Location	1p22.3
Name	Immunodeficiency 37
Corresponding gene	BCL10
Main clinical features	primary combined immunodeficiency disorder resulting in death at age 3 years gastroenteritis, otitis, and respiratory infections, viral influenza infection, respiratory syncytial virus (RSV) infection, and oral and diaper Candida infections hypogammaglobulinemia without lymphopenia, but with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

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