Hyper-IgM Syndromes

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis.
  • Differential diagnosis from other types of B cell immunodeficiency.
  • Appropriate medical management.
  • Carrier testing in siblings or other relatives.
  • Prenatal diagnosis.


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


81404x1, 81479x1
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.


  1. Revy P et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell. 2000 102(5):565-75.11007475
  2. Kasahara Y et al. Hyper-IgM syndrome with putative dominant negative mutation in activation-induced cytidine deaminase. The Journal Of Allergy And Clinical Immunology. 2003 112(4):755-60.14564357
  3. Durandy A et al. Activation-induced cytidine deaminase: structure-function relationship as based on the study of mutants. Human Mutation. 2006 27(12):1185-91.16964591
  4. Lee WI et al. Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. Blood. 2005 105(5):1881-90.15358621
  5. Etzioni A and Ochs HD. The hyper IgM syndrome--an evolving story. Pediatric Research. 2004 56(4):519-25.15319456
  6. Durandy A et al. Hyper-IgM syndromes. Current Opinion In Rheumatology. 2006 18(4):369-76.16763457
  7. Ferrari S et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proceedings Of The National Academy Of Sciences Of The United States Of America. 2001 98(22):12614-9.11675497
  8. Mazzolari E et al. First report of successful stem cell transplantation in a child with CD40 deficiency. Bone Marrow Transplantation. 2007 40(3):279-81.17502893
  9. Lanzi G et al. Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. Blood. 2010 116(26):5867-74.20702779
  10. Imai K et al. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nature Immunology. 2003 4(10):1023-8.12958596
  11. Hunter ZR et al. IgA and IgG hypogammaglobulinemia in Waldenström\\\'s macroglobulinemia. Haematologica. 2010 95(3):470-5.19903677