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GENATLAS PHENOTYPE

last update : 08-09-2017

Symbol	IMD43
Location	15q21.1
Name	Immunodeficiency 43
Corresponding gene	B2M
Main clinical features	reduction in serum concentrations of immunoglobulin and albumin, but no proteinuria or abnormality of renal or liver function and no circulating antibodies directed against either immunoglobulin or albumin recurrent lung infections, granulomatous dermatitis
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

Remark(s)