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.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis


3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs


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


  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