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GENATLAS PHENOTYPE

last update : 12-09-2017

Symbol	IMD49
Location	14q32.2
Name	Immunodeficiency 49
Corresponding gene	BCL11B
Main clinical features	no detectable T-cell-receptor (TCR) excision circles (TRECs) and profound T-cell lymphopenia. Immunologic studies revealed a SCID T-, B+, NK+ phenotype, with no naive CD4+ helper T cells and impaired T-cell proliferative responses associated with multiple abnormal systemic features, including neonatal teeth, hypotonia, wormian skull bones, dysmorphic facial features, mental retardation
Genetic determination	autosomal dominant
Function/system disorder	defense and immunity
	mental retardation
	neurology
Type	disease

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