hyper-IgM syndrome


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hyper-IgM syndrome

an X-linked immunodeficiency disorder with very low serum concentrations of IgG and IgA with a normal or a markedly elevated concentration of polyclonal IgM; secondary to a mutation in the CD40 ligand gene, leading to defective T cell-dependent, B-cell isotope switching affected boys develop recurrent bacterial infections in the first or second years of life.

hyper-IgM syndrome

Hyperimmunoglobulin M syndrome, see there.

hy·per-IgM syn·drome

(hī'pĕr sin'drōm)
An X-linked immunodeficiency disorder with very low serum concentrations of IgG and IgA with a normal or a markedly elevated concentration of polyclonal IgM; affected boys develop recurrent bacterial infections in the first or second year of life.
References in periodicals archive ?
Conley et al., "CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome," Science, vol.
(5) Other primary immunodeficiency diseases (PIDs) that cause recurrent mycobacterial infections include X-linked hyper-IgM syndrome, severe combined immunodeficiency syndrome and deficiencies of the IL-12/23-IFN-[gamma] axis.
Examples of primary immunodeficiency diseases, by affected component of the immune system Designation Gene Genetic locus Antibody deficiencies X-linked agammaglobu- BTK Xg21.3-q22 linemia (XLA) Common variable Unknown immunodeficiency (CVID) ICOS deficiency ICOS 2q33 Immunoglobulin A (IgA) IGAD1 6p21.3 deficiency Hyper-IgM syndrome AID 12p13 type 2 (AID deficiency) (AICDA) Hyper-IgM syndrome CD40 20p12-q13.2 type 3 Cellular deficiencies DiGeorge syndrome DGCR 22q11.2 Interferon gamma IFNGR1 6q23-q24 receptor deficiency IFNGR2 21q22.1-q22.2 IL-12 receptor deficiency IL12B 5q31.1-q33.1 IL12RB1 19p13.1 Combined B- and T-cell deficiencies T-negative, B-positive--severe combined immunodeficiencv (SCID): T cells are missina.
Low IgE levels have been reported in various forms of severe combined immunodeficiency, hyper-IgM syndrome, ataxia telangiectasia, X-linked recessive Bruton agammaglobulinemia, common variable immunodeficiency, transient hypogammaglobulinemia of infancy, and isolated IgE deficiency whose clinical significance is unclear.