title: Recurrent Respiratory Infections Revealing CD8α Deficiency.
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.
authors.affiliation: Study Center of Primary Immunodeficiency, APHP, Necker Hospital, 75015, Paris, EU, France.|Service d'Immunologie, Thérapie Cellulaire et Hématopoïèse (ITeCH), CHU Pontchaillou, Rennes, EU, France.
authors.forename: Erwan
authors.initials: E
authors.lastname: Dumontet
authors.affiliation: Study Center of Primary Immunodeficiency, APHP, Necker Hospital, 75015, Paris, EU, France.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Osman
authors.affiliation: Centre de l'Asthme et des Allergies, Groupe Hospitalier Trousseau-La Roche Guyon, Paris 06 Université, Paris, EU, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Guillemont-Lambert
authors.affiliation: Immuno-Hematology Unit, Necker Children's Hospital, Assistance Publique Hôpitaux de Paris (APHP), Paris, EU, France.|Necker Faculty of Medicine, Paris Sorbonne-Cité, Paris Descartes University, Paris, EU, France.
authors.forename: Guilhem
authors.initials: G
authors.lastname: Cros
authors.affiliation: Immuno-Hematology Unit, Necker Children's Hospital, Assistance Publique Hôpitaux de Paris (APHP), Paris, EU, France.|Necker Faculty of Medicine, Paris Sorbonne-Cité, Paris Descartes University, Paris, EU, France.|INSERM URM 1163, Institut IMAGINE, Paris, EU, France.
authors.forename: Despina
authors.initials: D
authors.lastname: Moshous
authors.affiliation: Study Center of Primary Immunodeficiency, APHP, Necker Hospital, 75015, Paris, EU, France. capucine.picard@inserm.fr.|Immuno-Hematology Unit, Necker Children's Hospital, Assistance Publique Hôpitaux de Paris (APHP), Paris, EU, France. capucine.picard@inserm.fr.|Necker Faculty of Medicine, Paris Sorbonne-Cité, Paris Descartes University, Paris, EU, France. capucine.picard@inserm.fr.|INSERM URM 1163, Institut IMAGINE, Paris, EU, France. capucine.picard@inserm.fr.|Centre de référence des déficits immunitaires héréditaires (CEREDIH), Hôpital Necker-Enfants Malades, APHP, Paris, EU, France. capucine.picard@inserm.fr.|Laboratory of Human Genetics of Infectious Diseases, INSERM UMR 1163 IMAGINE Institute, Paris, EU, France. capucine.picard@inserm.fr.
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
mesh_terms: D000293:Adolescent; D016827:CD8 Antigens / Q000235:genetics / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D016131:Lymphocyte Subsets / Q000502:physiology*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011948:Receptors, Antigen, T-Cell / Q000378:metabolism; D012008:Recurrence; D012141:Respiratory Tract Infections / Q000175:diagnosis* / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics; D013602:T-Lymphocytes, Cytotoxic / Q000502:physiology*
chemical_list: D016827:CD8 Antigens; C431698:CD8alpha antigen; D011948:Receptors, Antigen, T-Cell
keywords: CD8; CD8A; CID combined immune deficiency; TCR signaling; immunophenotyping