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خرید پکیج

تعداد آیتم قابل مشاهده باقیمانده : 3 مورد

Diagnostic criteria for X-linked severe combined immunodeficiency (SCID)^[1]

Diagnostic criteria for X-linked severe combined immunodeficiency (SCID)^[1]

Male with absent or very low number of T cells (<300 autologous T cells/microL) or T cells of maternal origin, and

No or very low T cell function (<10% of lower limit of normal) as measured by response to phytohemagglutinin (PHA), and

Normal B cell numbers, and low to absent NK cells (<40/microL), and

Presence of a hemizygous pathogenic variant in IL2RG gene by molecular testing or absent expression of IL2RG on B lymphocytes (may be present in some mutations but nonfunctional)

NOTE: Family history of SCID in male is supportive of diagnosis

NK: natural killer; IL2RG: interleukin 2 receptor gamma.

Reference:

Puck JM. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: The winner is T-cell receptor excision circles. J Allergy Clin Immunol 2012; 129:607.

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