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Concept information

Hemic and Lymphatic Diseases > Hematologic Diseases > Blood Protein Disorders > Dysgammaglobulinemia > Hyper-IgM Immunodeficiency Syndrome
Immune System Diseases > Immunologic Deficiency Syndromes > Dysgammaglobulinemia > Hyper-IgM Immunodeficiency Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Primary Immunodeficiency Diseases > Hyper-IgM Immunodeficiency Syndrome
Immune System Diseases > Immunologic Deficiency Syndromes > Primary Immunodeficiency Diseases > Hyper-IgM Immunodeficiency Syndrome

Terme préférentiel

Hyper-IgM Immunodeficiency Syndrome  

Type

  • mesh:Descriptor

Définition

  • A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation. Hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding activation-induced CYTIDINE DEAMINASE. Hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 ANTIGEN.

Concept générique

Concepts spécifiques

Synonyme(s)

  • Hyper-IgM Syndrome
  • Immunodeficiency with Hyper-IgM Syndrome

Qualificatif(s) autorisé(s)

Traductions

  • Syndrome d'hyper-IgM

    français

  • HIGM
  • Hyperimmunoglobulinémie M
  • Syndrome d'hyper IgM
  • Syndrome hyper IgM
  • Syndrome hyper-IgM

URI

http://data.loterre.fr/ark:/67375/JVR-NVFB4QC1-X

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RDF/XML TURTLE JSON-LD Date de création 05/07/2006, dernière modification le 17/06/2019