A family history of SCID and unrevealing WES: An approach to management and guidance of patients.
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DOI: 10.1016/j.clim.2020.108520
Abstract: Severe Combined Immunodeficiency (SCID) is a genetically heterogeneous group of disorders characterized by severe T cell lymphopenia and defective T and B cell function. Without prompt diagnosis and early intervention, patients with SCID typically die… read more here.
Keywords: family history; history scid; scid unrevealing; wes approach ... See more keywords