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GENATLAS PHENOTYPE

last update : 27-01-2010

Symbol	CCHIG
Location	11p12
Name	combined cellular and humoral immune defect and multiple granulomas
Corresponding gene	RAG1 , RAG2
Main clinical features	multiple facial papulonodular lesions composed of epithelioid cells with a strong lymphocytic infiltrat profound hypogammaglobulinemia, decreased T cells, and defective T-cell function relatively late onset and lack of repeated life-threatening infections suggested that that T-cell repertoire was sufficient to offer some residual protection but mostly reqires bone marrow transplant
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

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