GTR Home > Conditions/Phenotypes > Immunodeficiency with hyper IgM type 1

Disease characteristics

Excerpted from the GeneReview: X-Linked Hyper IgM Syndrome
X-linked hyper IgM syndrome (HIGM1), a disorder of abnormal T- and B-cell function, is characterized by low serum concentrations of IgG and IgA and normal or elevated serum concentrations of IgM. Mitogen proliferation may be normal, but NK- and T-cell cytotoxicity are frequently impaired. Antigen-specific responses may be decreased or absent. The range of clinical findings varies, even within the same family. Over 50% of males with HIGM1 develop symptoms by age one year, and more than 90% are symptomatic by age four years. HIGM1 usually presents in infancy with recurrent upper- and lower-respiratory tract bacterial infections, opportunistic infections, and recurrent or protracted diarrhea associated with failure to thrive. Neutropenia, thrombocytopenia, and anemia are common. Autoimmune and/or inflammatory disorders, such as sclerosing cholangitis, have been reported. Significant neurologic complications, often the result of a CNS infection, are seen in 10%-15% of affected males. Liver disease, including primary cirrhosis and carcinomas (bile duct carcinomas, hepatocellular carcinomas, adenocarcinomas of the liver and gall bladder), and tumors of the gastrointestinal tract (carcinoid of the pancreas, glucagonoma of the pancreas) are common life-threatening complications in adolescents and young adults with HIGM1. Affected males also have an increased risk for lymphoma, particularly Hodgkin's disease associated with Epstein-Barr virus infection.

Available tests

11 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

  • Also known as: RP3-527F8.3, CD154, CD40L, HIGM1, IGM, IMD3, T-BAM, TNFSF5, TRAP, gp39, hCD40L, CD40LG
    Summary: CD40 ligand

Clinical features

  • Neutropenia
  • Splenomegaly
  • Thrombocytopenia
  • IgA deficiency
  • IgE deficiency
  • Absence of lymph node germinal center
  • Impaired Ig class switch recombination
  • IgG deficiency
  • Diarrhea
  • Decreased T cell activation
  • Recurrent bacterial infections
  • Gingivitis
  • Hemolytic anemia
  • Hepatomegaly
  • Immunodeficiency
  • Impaired memory B-cell generation
  • Dysgammaglobulinemia
  • Increased IgM level
  • Stomatitis
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