XLP 1 and XLP 2 are X-linked immunodeficiencies characterised by extreme sensitivity to the Epstein Barr virus (EBV). Affected individuals can be diagnosed on the basis of an abnormality or deficiency of the SLAM associated protein (SAP) or XIAP protein. The SH2D1A gene (encoding for SAP) has 4 exons and family specific mutations are found throughout the gene.
Also known as
XLP1, Lymphoproliferative disease X-linked (XLPD), LYP, Duncan disease, Epstein-Barr virus infection familial fatal, EBV infection severe, susceptibility to (EBVS), Infectious mononucleosis severe susceptibility to, immunodeficiency X-linked progressive combined variable, Immunodeficiency 5 (IMD5), Purtilo syndrome, Signaling lymphocyte activation molecule-associated protein SLAM-associated protein (SAP)
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When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.
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The guidelines for the NCG service for immunodeficiencies apply to the molecular analysis of XLP (details on request). Affected patients should be referred to the Molecular Immunology laboratory at GOSH for SH2D1A protein analysis. This requires prior arrangement and completion of specific request forms (contact Dr Kimberly Gilmour in Molecular Immunology, GOSH � Tel: +44 (0) 20 7829 8835, Email: Kimberly.Gilmour@gosh.nhs.uk). We work closely with this department and will undertake mutation screening in appropriate patients.
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
1ml EDTA neonates, 5ml EDTA adults
Disease / group
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Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis