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immunodeficiency with hyper-IgM

Wednesday 26 January 2011

Definition: HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections.

In addition to HIGM1, other forms of HIGM include HIGM2 (MIM.605258), which results from mutation in the AICDA gene (MIM.605257), HIGM3 (MIM.606843), which results from mutation in the CD40 gene (MIM.109535), and HIGM5 (MIM.608106), which results from mutation in the UNG gene (MIM.191525). No gene is known in 2010 for HIGM4 (MIM.608184).

Types

- immunodeficiency with hyper-IgM type 1 / HIGM1 (MIM.308230) at Xq26
- immunodeficiency with hyper-IgM type 2 / HIGM2 (MIM.605258) at 12p13
- immunodeficiency with hyper-IgM type 3 / HIGM3 (MIM.606843) at 20q12-q13.2
- immunodeficiency with hyper-IgM type 4 / HIGM4 (MIM.608184)
- immunodeficiency with hyper-IgM type 5 / HIGM5 (MIM.608106) at 12q23-q24.1

Synopsis

- X-linked recessive
- Tonsillar hypertrophy
- Gingivitis
- Ulcerative stomatitis
- Hepatomegaly
- Chronic hepatitis
- Splenomegaly
- Diarrhea
- Proctitis
- Neutropenia, chronic or cyclic
- Anemia
- Hemolytic anemia
- Thrombocytopenia
- Immunodeficiency
- Dysgammaglobulinemia
- Primary dysfunction of B-lymphocyte isotype switching and memory B-cell generation
- Lymph nodes lack germinal centers
- Normal or increased IgM
- Serum IgA, IgG, and IgE severely deficient
- B-cell count normal
- Decreased T cell activation
- Recurrent bacterial infections with onset in the first or second year of life
- Pneumocytosis carinii infection (12 to 42%)
- Opportunistic infections

Etiology

- HIGM1 is caused by mutations in the tumor necrosis factor ligand superfamily, member 5 gene (TNFSF5, 308230.0001)

See also

- immunodeficiencies

  • constitutional immunodeficiencies (genetic immunodeficiencies)