X-linked Hyper IgM syndrome


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

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

40 days

Disease / group



Upon request

Call in advance?

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


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

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