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Article
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene
Griscelli disease (OMIM 214450) is a rare autosomal recessive disorder characterized by pigmentary dilution, variable cellular immunodeficiency and onset of acute phases of uncontrolled lymphocyte and macropha...
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Article
Immunogenicity ofHaemophilus influenzae type b capsular polysaccharide and its tetanus toxoid conjugate in patients with recurrent infections or humoral immunodeficiency
The antibody response to the capsular polysaccharide ofHaemophilus influenzae type b was evaluated after vaccination with the capsular polysaccharide or its tetanus toxoid conjugate in 41 randomized patients with...
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Article
Hyper-IgM immunodeficiency syndrome: Influence of lymphokines onin vitro maturation of peripheral B cells
Peripheral B cells from six patients affected with the hyper-IgM immunodeficiency syndrome, characterized by an absence of IgG and IgA in serum with a concomitant elevated level of IgM, were analyzed for pheno...
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Article
An HLA-DRα promoter DNA-binding protein is expressed ubiquitously and maps to human chromosomes 22 and 5
The class II major histocompatibility complex antigens are a family of integral membrane proteins whose expression is tissue-specific and developmentally regulated. Three consensus sequences, X1, X2, and Y, separ...
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Article
Molecular characterization of ataxia telangiectasia T cell clones
To delimit the 14q32.1 recurrent breakpoint of ataxia telangiectasia clones, we performed an in situ hybridization study with various probes located on the 14q32 band. We thus mapped this breakpoint between th...
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Article
Molecular characterization of different ataxia telangiectasia T-cell clones
Using in situ chromosomal hybridization we have mapped the gene for the T-cell receptor α-chain in three different non-malignant T-cell clones occurring in ataxia telangiectasia. The constant region was transl...
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Chapter
Mannan Antigen of Candida Albicans and Cellular Immune Responses in Vitro and in Vivo
Candidaalbicans (CA) is an ubiquitous pathogen that can cause severe infection in immunocompromised subjects. By studying the types of immunodeficiencies (ID) which are associated with CA infections, it is possib...
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Article
A study of 25 patients with chronic granulomatous disease: A new classification by correlating respiratory burst, cytochrome b, and flavoprotein
Twenty-five patients suffering from chronic granulomatous disease (CGD) and their families were investigated. Defects in the superoxide generating system were characterized at the level of the heme-containing ...
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Article
CYTIDINE DEAMINASE DEFICIENCY AND IMMUNODEFICIENCY MORE THAN A COINCIDENCE ?: 155
A 9 month-old boy, the fourth and the only surviving child of consanguineous parents of tunisian origin, was investigated for severe immunodeficiency associated with autoimmune anemia and thrombocytopenia. Inc...
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Chapter
Congenital and Acquired Lactoferrin Deficiencies in Neutrophils
Human polymorphonuclear leukocytes (PMN) contain two main types of granules: the primary or azurophil granules and the secondary or specific granules 1. Each one can be recognized by specific markers of their con...
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Chapter
Enzymatic Deficiency in Monocytes from Patients with Chronic Granulomatous Disease
Chronic granulomatous disease (CGD) is by convention defined as a disorder involving a high susceptibility to bacterial infection related to the inability of the patient’s neutrophils to increase oxygen consum...
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Article
Nonspecific Alpha-Naphtyl Acetate Esterase Activity of T-Lymphocytes: Study in Healthy Newborns and Children, in Immune Deficiencies and Juvenile Rheumatoid Arthritis
Summary: The aim of this study was to compare the E rosette-forming cells and nonspecific alpha naphtyl esterase (ANAE)-positive lymphocyte values in normal and pathologic situations. In newborns, the ANAE-pos...
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Article
Molecular and functional anomalies in two new mutant glucose-phosphate-isomerase variants with enzyme deficiency and chronic hemolysis
Two new deficient glucose-phosphate-isomerase (GPI) variants have been described in patients suffering from severe chronic hemolytic anemias. The patients' parents were consanguineous, such that the patients w...
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Chapter
Gut-Associated Lymphoblasts and Intestinal IgA Plasma Cells
The term “gut-associated lymphoid system” (GALS) can he applied, in the mouse and in the rat, to the lymphoid cells present in 1) the Peyers’ patches (PP) ; 2) the intestinal mucosa, where these cells consist ...