X-Linked lymphoproliferative disease 1


Description

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, XLP2, XIAP-deficiency, 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)


Request a test

When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.


Additional information

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. Download additional information >


Sending address

Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square
London
WC1N 3BH

Laboratory service

Genetics


Sample requirements

1ml EDTA neonates, 5ml EDTA adults


Reference range

Not applicable


Turnaround time

40 days


Disease / group

SH2D1A, XIAP


Cost

Upon request


Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


Genetics

The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

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