Hyper IgM Syndrome

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Classification according to ICD-10
D80.5 Immunodeficiency with increased immunoglobulin M [IgM]
ICD-10 online (WHO version 2019)

With Hyper-IgM syndrome , and IgM syndrome, a group of the will Dysgammaglobulinämien counting rare congenital diseases with increased immunoglobulin M and simultaneously reduced to a lack of immunoglobulin G and immunoglobulin A in blood serum designated.

Classification and causes

Depending on the underlying genetic mutation , a distinction is currently made:

  • HIGM1 ( Hyper-IgM syndrome due to CD40 ligand deficiency; XHIGM; HYPER-IgM IMMUNODEFICIENCY, X-LINKED; XHIM; HYPER-IgM SYNDROME 1; HYPER-IgM SYNDROME; HIGM; IHIS ), X-linked with. - recessive , Infection tendency, TNFSF5 gene at locus Xq26.3
  • HIGM2 ( AID deficiency; activation-induced cytidine deaminase deficiency ), no tendency to infection, autosomal recessive, AICDA gene at 12p13.31
  • HIGM3 ( hyper-IgM syndrome due to CD40 deficiency ) with a tendency to infection, autosomal recessive, CD140 gene at 20q13.12
  • HIGM4 with no tendency to infection
  • HIGM5 ( Hyper-IgM syndrome due to UNG deficiency; Hyper-IgM syndrome due to uracil-N-glycosylase deficiency ) without a tendency to infection, autosomal recessive, UNG gene at 12q24.11

Clinical manifestations

From a clinical point of view, the alternative classification according to increased susceptibility to infection due to the immunodeficiency is relevant:

  • Forms with increased infections: HIGM1 and HIGM3
  • Forms without an increased risk of infection: HIGM2, HIGM4 and HIGM5

In contrast to isolated immunodeficiency diseases, infections with Pneumocystis carinii often occur in this syndrome .

Individual evidence

  1. ↑ G. Horneff, N. Wagner: Hyper-IgM-Syndrome ( Memento of the original from January 16, 2016 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice. @1@ 2Template: Webachiv / IABot / www.immundefekt.de
  2. ↑ Hyper-IgM syndrome, X-linked. In: Orphanet (Rare Disease Database).
  3. ↑ Immunodeficiency, X-linked, with hyper-IgM.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ Hyper-IgM syndrome type 2. In: Orphanet (database for rare diseases).
  5. ↑ Immunodeficiency with hyper-IgM, type 2.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ Hyper-IgM syndrome type 3. In: Orphanet (database for rare diseases).
  7. ↑ Immunodeficiency with hyper-IgM, type 3.  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ Hyper-IgM syndrome type 4. In: Orphanet (database for rare diseases).
  9. ^ Immunodeficiency with Hyper-IgM, type 4.  In: Online Mendelian Inheritance in Man . (English)
  10. ↑ Hyper-IgM syndrome type 5. In: Orphanet (database for rare diseases).
  11. ^ Immunodeficiency with hyper IgM, type 5.  In: Online Mendelian Inheritance in Man . (English)
  12. ↑ Hyper-IgM syndrome with opportunistic infections. In: Orphanet (Rare Disease Database).
  13. ↑ Hyper-IgM syndrome without opportunistic infections. In: Orphanet (Rare Disease Database).
  14. ↑ R. Heiming, T. Beuschausen, T. Liebner, J. Seidenberg, J. Roesler: Life-threatening Pneumocystis carinii pneumonia in a 4-month-old boy with Hyper IgM syndrome. In: Monthly Pediatric  : Organ of the German Society for Pediatrics. Vol. 141, No. 11, November 1993, pp. 860-863, PMID 8283991 .

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