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GENATLAS PHENOTYPE

last update : 17-09-2024

Symbol	IMD121
Location	16q22.1
Name	Immunodeficiency 121 with autoinflammation
Corresponding gene	PSMB10
Main clinical features	characterized clinically by T-, B-, NK+/- severe combined immunodeficiency (SCID) associated with failure to thrive, erythrodermia, diarrhea, and alopecia lymphopenia with reduced or absent B cells, decreased T cells, skewed T-cell repertoire, and eosinophilia
Genetic determination	autosomal dominant
Function/system disorder	defense and immunity
Type	disease

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