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.

Farlex Partner Medical Dictionary © Farlex 2012

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.

Medical Dictionary for the Health Professions and Nursing © Farlex 2012

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References in periodicals archive

Conley et al., "CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome," Science, vol.

Persistent polyclonal B cell lymphocytosis B cells can be activated through CD40-CD154 interaction

(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.

A novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa

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.

Applying public health strategies to primary immunodeficiency diseases: a potential approach to genetic disorders

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.

Immunoglobulin E