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GENATLAS PHENOTYPE

last update : 10-09-2017

Symbol	IMD46
Location	3q29
Name	Immunodeficiency 46
Corresponding gene	TFRC
Main clinical features	primary immunodeficiency resulting in severe childhood infections hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, and intermittent thrombocytopenia
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

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