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CD8 deficiency

Related gene: CD8A

Inheritance pattern: Autosomal recessive

CD8 deficiency is an extremely rare autosomal recessive disorder due to homozygous variants in the CD8A gene. CD8 is a T cell receptor (TCR) accessory molecule that interacts with the major histocompatibility complex (MHC). CD8 is found on cytotoxic T cells and NK cells.

Individuals with CD8 deficiency have a range of clinical phenotypes from asymptomatic to recurrent sinopulmonary infections beginning later in childhood. CD4+ T cell, B cell, and NK cell percentages and absolute counts are normal, but CD8+ T cells are absent. There is no published data regarding therapy for these patients and management is directed toward infectious complications and may include Ig replacement therapy.

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Learn more about combined immune deficiencies.

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