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GENATLAS PHENOTYPE

last update : 03-01-2013

Symbol	DCML
Location	3q21
Name	dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Corresponding gene	GATA2
Other symbol(s)	MONOMAC
Main clinical features	combined immunodeficiency, characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T cell numbers susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis associated with myelodysplasia, cytogenetic abnormalities, pulmonary alveolar proteinosis, and myeloid leukemias
Genetic determination	autosomal dominant
Function/system disorder	defense and immunity
Type	disease

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