title: Primary membrane T cell immunodeficiencies.
abstract: Primary membrane T cell immunodeficiencies (ID) have recently been characterized. In this paper we describe the main findings about the leukocyte adhesion deficiencies (LAD), the ID with low expression of the T cell receptor/CD3 complex, and the Omenn's syndrome. LAD is a consequence of mutations in the beta-chain-encoding gene of the leukocyte adhesion proteins. Functional consequences mainly affect phagocytic cells which are incapable of transendothelial migration. Effector T lymphocyte functions are, however, also impaired, i.e., helper T cell activity and cytotoxicity. The latter defect may account for the inability of LAD patients to reject HLA nonidentical bone marrow. Low expression of the T cell receptor CD3 complex is a rare entity characterized by a profoundly diminished expression of the whole complex on all T cells. The basic defect has not yet been unravelled. Interestingly, such T cells differentiate normally and can be activated by some antigens while anti-CD3 and anti-CD2 antibodies are not efficient. In five patients with Omenn's syndrome (combined immunodeficiency with eosinophilia), oligoclonal T cells were detected in blood, skin, and gut. These T cells are also in vivo activated. Since in one family, one sibling presented with typical SCID, i.e., alymphocytosis, and another with the Omenn's syndrome, it is proposed that the latter syndrome may correspond to a form of leakiness of SCID as found in the mice SCID model.
authors.affiliation: INSERM U 132, Hôpital Necker Enfants Malades, Paris, France.
authors.forename: F
authors.initials: F
authors.lastname: Le Deist
authors.forename: G
authors.initials: G
authors.lastname: de Saint Basile
authors.forename: F
authors.initials: F
authors.lastname: Mazerolles
authors.forename: G
authors.initials: G
authors.lastname: Thoenes
authors.forename: J P
authors.initials: JP
authors.lastname: De Villartay
authors.forename: N
authors.initials: N
authors.lastname: Cerf-Bensussan
authors.forename: B
authors.initials: B
authors.lastname: Lisowska-Grospierre
authors.forename: C
authors.initials: C
authors.lastname: Griscelli
authors.forename: A
authors.initials: A
authors.lastname: Fischer
mesh_terms: D000945:Antigens, Differentiation, T-Lymphocyte; D017252:CD3 Complex; D004802:Eosinophilia / Q000276:immunology; D007153:Immunologic Deficiency Syndromes / Q000276:immunology*; D016167:Integrin alphaXbeta2; D016169:Lymphocyte Function-Associated Antigen-1; D016177:Macrophage-1 Antigen; D011948:Receptors, Antigen, T-Cell; D013601:T-Lymphocytes / Q000276:immunology*
chemical_list: D000945:Antigens, Differentiation, T-Lymphocyte; D017252:CD3 Complex; D016167:Integrin alphaXbeta2; D016169:Lymphocyte Function-Associated Antigen-1; D016177:Macrophage-1 Antigen; D011948:Receptors, Antigen, T-Cell