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Review
. 2023 Feb 7;12(2):272.
doi: 10.3390/pathogens12020272.

Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review

Kalpana George  1   2 , Geeta Govindaraj  2   3   4
Affiliations
Review

Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review

Kalpana George et al. Pathogens. .

Abstract

Enhanced susceptibility to microbes, often resulting in severe, intractable and frequent infections due to usually innocuous organisms at uncommon sites, is the most striking feature in individuals with an inborn error of immunity. In this narrative review, based on the International Union of Immunological Societies' 2022 (IUIS 2022) Update on phenotypic classification of human inborn errors of immunity, the focus is on commonly encountered Combined Immunodeficiency Disorders (CIDs) with susceptibility to infections. Combined immune deficiency disorders are usually commensurate with survival beyond infancy unlike Severe Combined Immune Deficiency (SCID) and are often associated with clinical features of a syndromic nature. Defective humoral and cellular immune responses result in susceptibility to a broad range of microbial infections. Although disease onset is usually in early childhood, mild defects may present in late childhood or even in adulthood. A precise diagnosis is imperative not only for determining management strategies, but also for providing accurate genetic counseling, including prenatal diagnosis, and also in deciding empiric treatment of infections upfront before investigation reports are available.

Keywords: combined immune deficiency; inborn errors of immunity; infections.

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Conflict of interest statement

The authors declare no conflict of interest.

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