X-linked Hyper IgM syndrome


Description

Hyper IgM syndrome is a primary immunodeficiency characterised by an inability to produce immunoglobulin isotypes other than IgM and IgD resulting in susceptibility to bacterial and opportunistic infections. The disease is genetically heterogeneous with both X-linked recessive and autosomal recessive forms. X-linked HIGM is the most common form and affected individuals can be diagnosed on the basis of an abnormality or deficiency of the CD40 ligand protein, CD154. The CD40LG gene has 5 exons and family specific mutations are found throughout the gene.

Also known as

Immunodeficiency with hyper-IgM, type 1 (HIGM1), Hyper-IgM Immunodeficiency, X-linked (XHIM), Hyper-IgM Syndrome 1, Hyper-IgM Syndrome (HIGM / IHIS), CD40 Antigen ligand (CD40L), CD154, TNF-related activation protein (TRAP), Tumor necrosis factor ligand superfamily member 5 (TNFSF5), GP39


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 X-linked HIGM (details on request). Affected patients should be referred to the Molecular Immunology laboratory at GOSH for CD154 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

CD40LG


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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