Recurrent Respiratory Infections Revealing CD8α Deficiency

Erwan Dumontet; Jennifer Osman; Nathalie Guillemont-Lambert; Guilhem Cros; Despina Moshous; Capucine Picard

doi:10.1007/s10875-015-0213-x

Recurrent Respiratory Infections Revealing CD8α Deficiency

J Clin Immunol. 2015 Nov;35(8):692-5. doi: 10.1007/s10875-015-0213-x. Epub 2015 Nov 12.

Authors

Erwan Dumontet^{1

2}, Jennifer Osman¹, Nathalie Guillemont-Lambert³, Guilhem Cros^{4

5}, Despina Moshous^{4

5

6}, Capucine Picard^{7

8

9

10

11

12}

Affiliations

¹ Study Center of Primary Immunodeficiency, APHP, Necker Hospital, 75015, Paris, EU, France.
² Service d'Immunologie, Thérapie Cellulaire et Hématopoïèse (ITeCH), CHU Pontchaillou, Rennes, EU, France.
³ Centre de l'Asthme et des Allergies, Groupe Hospitalier Trousseau-La Roche Guyon, Paris 06 Université, Paris, EU, France.
⁴ Immuno-Hematology Unit, Necker Children's Hospital, Assistance Publique Hôpitaux de Paris (APHP), Paris, EU, France.
⁵ Necker Faculty of Medicine, Paris Sorbonne-Cité, Paris Descartes University, Paris, EU, France.
⁶ INSERM URM 1163, Institut IMAGINE, Paris, EU, France.
⁷ Study Center of Primary Immunodeficiency, APHP, Necker Hospital, 75015, Paris, EU, France. capucine.picard@inserm.fr.
⁸ Immuno-Hematology Unit, Necker Children's Hospital, Assistance Publique Hôpitaux de Paris (APHP), Paris, EU, France. capucine.picard@inserm.fr.
⁹ Necker Faculty of Medicine, Paris Sorbonne-Cité, Paris Descartes University, Paris, EU, France. capucine.picard@inserm.fr.
¹⁰ INSERM URM 1163, Institut IMAGINE, Paris, EU, France. capucine.picard@inserm.fr.
¹¹ Centre de référence des déficits immunitaires héréditaires (CEREDIH), Hôpital Necker-Enfants Malades, APHP, Paris, EU, France. capucine.picard@inserm.fr.
¹² Laboratory of Human Genetics of Infectious Diseases, INSERM UMR 1163 IMAGINE Institute, Paris, EU, France. capucine.picard@inserm.fr.

PMID: 26563160
DOI: 10.1007/s10875-015-0213-x

Abstract

CD8A encodes the CD8α chain of the dimeric CD8 protein, a critical coreceptor of cytotoxic T cells. We report here the comprehensive immunological evaluation of a child with a CD8A missense mutation, providing evidence that CD8 deficiency increases susceptibility to recurrent respiratory infections without interfering with the TCR-mediated proliferation of T cells. These observations expand the known phenotypes associated with CD8 deficiency.

Keywords: CD8; CD8A; CID combined immune deficiency; TCR signaling; immunophenotyping.

Publication types

Case Reports

MeSH terms

Adolescent
CD8 Antigens / genetics
CD8 Antigens / metabolism*
Child
Child, Preschool
DNA Mutational Analysis
Humans
Immunologic Deficiency Syndromes / diagnosis*
Immunologic Deficiency Syndromes / genetics
Infant
Lymphocyte Subsets / physiology*
Male
Mutation, Missense / genetics
Pedigree
Phenotype
Receptors, Antigen, T-Cell / metabolism
Recurrence
Respiratory Tract Infections / diagnosis*
Respiratory Tract Infections / genetics
Signal Transduction / genetics
T-Lymphocytes, Cytotoxic / physiology*

Substances

CD8 Antigens
CD8alpha antigen
Receptors, Antigen, T-Cell