Hyper-IgM syndrome type 2

In medicine, Hyper IgM Syndrome Type 2 is a rare disease.

Unlike other hyper-IgM syndromes, the Type 2 patients identified thus far did not present with a history of opportunistic infections. One would expect opportunistic infections in any immunodeficiency syndrome. The putative genetic lesion is in the AICDA gene found at 12p13. The patients have three common findings:^[1]

the absence of immunoglobulin class switch recombination
the lack of immunoglobulin somatic hypermutations, and
lymph node hyperplasia caused by the presence of giant germinal centers.

References

↑ Revy P, Muto T, Levy Y, et al. (September 2000). "Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)". Cell. 102 (5): 565–75. doi:10.1016/S0092-8674(00)00079-9. PMID 11007475.

Online Mendelian Inheritance in Man (OMIM) Immunodeficiency with Hyper-IgM, Type 2 -605258

Immune disorders: Lymphoid and complement immunodeficiency (D80–D85, 279.0–4)

Primary

Antibody/humoral (B)

Hypogammaglobulinemia	X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy

Dysgammaglobulinemia	IgA deficiency IgG deficiency IgM deficiency Hyper IgM syndrome (1 2 3 4 5) Wiskott-Aldrich syndrome Hyper-IgE syndrome

Other	Common variable immunodeficiency ICF syndrome

T cell deficiency (T)

thymic hypoplasia: hypoparathyroid (Di George's syndrome)
euparathyroid (Nezelof syndrome
Ataxia telangiectasia)

peripheral: Purine nucleoside phosphorylase deficiency

Hyper IgM syndrome (1)

Severe combined (B+T)

x-linked: X-SCID
autosomal: Adenosine deaminase deficiency
Omenn syndrome
ZAP70 deficiency
Bare lymphocyte syndrome

Acquired

AIDS

Leukopenia:
Lymphocytopenia

Idiopathic CD4+ lymphocytopenia

Complement deficiency

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