Hyper-IgM syndrome type 4

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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 4 ( HIGM4 ) 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 .

The exact cause is not yet known.

Clinical manifestations

The disease belongs to the forms without increased infections , i.e. no increased tendency to infection due to the immunodeficiency .

literature

  • K. Imai, N. Catalan, A. Plebani, L. Maródi, O. Sanal, S. Kumaki, V. Nagendran, P. Wood, C. Glastre, F. Sarrot-Reynauld, O. Hermine, M. Forveille, P. Revy, A. Fischer, A. Durandy: Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination. In: The Journal of clinical investigation. Vol. 112, No. 1, July 2003, pp. 136-142, doi: 10.1172 / JCI18161 , PMID 12840068 , PMC 162294 (free full text).

Individual evidence

  1. ↑ Hyper-IgM syndrome type 4. In: Orphanet (database for rare diseases).
  2. ^ Immunodeficiency with Hyper-IgM, type 4.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ Hyper-IgM syndrome without opportunistic infections. In: Orphanet (Rare Disease Database).