Hyper-IgM syndrome type 1

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

The Hyper-IgM syndrome type 1 ( HIGM1 ) is a special form of the rare hyper-IgM syndrome , a hereditary disease with increased immunoglobulin M and simultaneously reduced to the absence of immunoglobulin G and immunoglobulin A in the blood serum .

Synonyms are: Hyper-IgM syndrome due to CD40 ligand deficiency; XHIGM; HYPER-IgM IMMUNODEFICIENCY, X-LINKED; XHIM; HYPER-IgM SYNDROME; HIGM; IHIS

distribution

The frequency is unknown; inheritance is X-linked - recessive . This type is considered to be the most common in the group of hyper-IgM syndromes.

root cause

The disease are mutations in TNFSF5- gene on locus Xq26 basis that the protein encoded CD 154 which binds to the T lymphocytes place.

Clinical manifestations

The disease belongs with the hyper-IgM syndrome type 3 to the forms with increased infections , an increased tendency to infection due to the immune deficiency . In contrast to isolated immunodeficiency diseases, infections with Pneumocystis carinii often occur in this syndrome .

treatment

Treatment consists of substitution therapy .

literature

  • PN Liu, H. Li, Q. Li, ZW Yin, CY Zhou, MY Jiang, X. Guo: A novel mutation in the CD40 ligand gene in a Chinese boy with X-linked hyper-IgM syndrome. In: Asian Pacific journal of allergy and immunology / launched by the Allergy and Immunology Society of Thailand. Vol. 32, No. 3, September 2014, pp. 270-274, doi: 10.12932 / AP0365.32.3.2014 , PMID 25268346 .

Individual evidence

  1. ↑ a b Hyper-IgM syndrome, X-linked. In: Orphanet (Rare Disease Database).
  2. ↑ Immune Disease
  3. ↑ 308230 Immunodeficiency, X-linked, with hyper-IgM.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ Hyper-IgM syndrome with opportunistic infections. In: Orphanet (Rare Disease Database).
  5. ↑ 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 .
  6. ↑ T. Luthardt: Intravenous immunoglobulin substitution in the case of antibody deficiency syndrome. In: German Medical Weekly (1946). Vol. 105, No. 28, July 1980, pp. 993-997, doi: 10.1055 / s-2008-1070798 , PMID 7408694 .