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GENATLAS PHENOTYPE

last update : 16-02-2016

Symbol	SCIDNK
Location	1q31.3
Name	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
Corresponding gene	PTPRC
Main clinical features	fever, rash, hepatosplenomegaly, lymphadenopathy, pneumonitis, and pancytopenia in early infancy Laboratory investigation showed low T-cell numbers and decreased immunoglobulins with normal B-cell numbers; all nucleated hematopoietic cells had abnormal expression of PTPRC
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

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