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Combined immunodeficiencies

Francisco A Bonilla, MD, PhD
Section Editor
Luigi D Notarangelo, MD
Deputy Editor
Elizabeth TePas, MD, MS


Several genetic mutations lead to variable immune defects of humoral and cell-mediated immunity (table 1) [1-3]. Combined immunodeficiency syndromes are somewhat arbitrarily distinguished from severe combined immunodeficiency (SCID) in that they do not characteristically lead to death from overwhelming infection in the first year of life. In addition, combined immunodeficiency syndromes frequently have associated clinical features.

Mutations of a particular gene may lead to SCID or to milder combined immunodeficiency, depending upon whether the gene defect is fully penetrant or on the functional consequences of the specific mutation: amorphic (complete defect) or hypomorphic (partial defect). Genetic defects in which the mutations primarily lead to a SCID phenotype are discussed separately. (See "Severe combined immunodeficiency (SCID): Specific defects" and "CD3/T cell receptor complex disorders causing immunodeficiency".)

The following combined immunodeficiency syndromes are discussed separately:

CD40 and CD40 ligand deficiencies (see "Hyperimmunoglobulin M syndromes")

Wiskott-Aldrich syndrome (see "Wiskott-Aldrich syndrome")

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Literature review current through: Nov 2017. | This topic last updated: May 20, 2016.
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