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Constitutional mismatch repair deficiency

Related gene: PMS2

Inheritance pattern: Autosomal recessive

PMS2 gene variants cause a type of constitutional mismatch repair deficiency (CMMRD) with defective Ig class switching from IgM to IgG and IgA. It is a very rare primary immunodeficiency resulting in low serum IgG and IgA with elevated serum IgM. This disorder results in café-au-lait spots on the skin, and patients are predisposed to several types of cancers.

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Other antibody deficiencies 

Similar to the patients with X-linked agammaglobulinemia (XLA)hyper IgM syndromecommon variable immune deficiency (CVID), and specific antibody deficiency (SAD), individuals with less common antibody deficiencies usually present with upper respiratory infections or infections of the sinuses or lungs, typically with organisms like Streptococcus pneumoniae and Haemophilus influenzae. Laboratory studies show low immunoglobulins and/or deficient specific antibody production. Many of these disorders also include abnormalities in the cells responsible for generating or maintaining an antibody response. The patients often improve with antibiotics but get sick again when these are discontinued. The cornerstone of therapy for antibody deficiency disorders is immunoglobulin (Ig) replacement therapy.

This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.

Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition 
Copyright ©2019 by Immune Deficiency Foundation, USA