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immunodeficiency with hyper-IgM type 4
MIM.608184
Wednesday 26 January 2011
Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.
See also
immunodeficiencies
- constitutional immunodeficiencies (genetic immunodeficiencies)
immunodeficiency with hyper-IgM
- 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
References
Imai, K., Catalan, N., Plebani, A., Marodi, L., Sanal, O., Kumaki, S., Nagendran, V., Wood, P., Glastre, C., Sarrot-Reynauld, F., Hermine, O., Forveille, M., Revy, P., Fischer, A., Durandy, A. Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination. J. Clin. Invest. 112: 136-142, 2003. [PubMed: 12840068]