Hyper-IgM (HIGM) syndrome [8 genes]

Hyper-IgM syndrome (HIGM) is a type of primary antibody deficiency characterized by the inability of B cells to switch from being IgM producing cells to being IgG, IgA, or IgE producing cells (class switch recombination deficiency). As a result, patients have decreased levels of immunoglobulin G (IgG) or IgA and normal to elevated levels of IgM in blood. Most of reported HIGM cases (70%) are caused by mutations in CD40LG, whereas the remaining 30% are caused by any of the other genes.

  • 1/500,000
  • 1/1,000,000 (AICDA deficiency)
  • 70% casos (CD40LG)

  • Differential diagnosis: CVID, agammaglobulinemia, CID
  • Genetic counseling
  • Ig replacement (IVIG)
  • Antibiotic prophylaxis
  • Avoid corticosteroids and live viral vaccines

Identifying a genetic defect responsible for the disease would allow a precise molecular diagnosis to be issued and make it possible to provide genetic counseling to the patient and their family members. In some cases, detecting a genetic variant can help explore specific treatment options.

  • Chronic bacterial infections
  • Elevated serum IgM levels
  • Lymphoid hyperplasia
  • Autoimmunity
  • Onset: infancy and childhood, mostly boys

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Hyper-IgM (HIGM) syndrome

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-201906890

Hyper-IgM (HIGM) syndrome: View panel
  • AICDA
  • CD40
  • CD40LG
  • INO80
  • MSH6
  • PIK3R1
  • PMS2
  • UNG

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Immune Deficiency Foundation (IDF). Hyper IgM Syndromes.
  2. NORD (National Organization for Rare Disorders). Hyper IgM Syndrome. https://rarediseases.org/rare-diseases/hyper-igm-syndrome/. Accessed May 22, 2018.
  3. Petrovski, S., Parrott, R. E., Roberts, J. L., Huang, H., Yang, J., Gorentla, B., … Buckley, R. H. (2016). Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. Journal of Clinical Immunology, 36(5), 462–471. https://doi.org/10.1007/s10875-016-0281-6
  4. Rezaei N, Bonilla FA, Sullivan KE, De Vries E, Orange JS. An introduction to primary immunodeficiency diseases. Prim Immunodefic Dis Defin Diagnosis, Manag. 2008:1-38. doi:10.1007/978-3-540-78936-9_1
  5. Winkelstein JA, Marino MC, Ochs H, et al. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore). 2003;82(6):373-384. doi:10.1097/01.md.0000100046.06009.b0