acid-phosphatase and Immunologic-Deficiency-Syndromes

Topics: Acid Phosphatase; Agranulocytosis; Blood Bactericidal Activity; Chediak-Higashi Syndrome; Chemotaxis; Child, Preschool; Complement System Proteins; Cytoplasmic Granules; Female; Glucosephosphate Dehydrogenase Deficiency; Humans; Immunologic Deficiency Syndromes; Infant, Newborn; Infant, Premature; Leukocytes; Liver; Lysosomes; Macrophages; Male; Monocytes; Mononuclear Phagocyte System; Muramidase; NADH, NADPH Oxidoreductases; Neutrophils; Opsonin Proteins; Peroxidases; Phagocyte Bactericidal Dysfunction; Phagocytosis; Spleen

Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia, characterized by metaphyseal lesions, neurological impairment and immune dysregulation associated with lupus-like features. SPENCD is caused by biallelic mutations in the ACP5 gene encoding tartrate-resistant phosphatase. We report on a child, who presented with spasticity, multisystem inflammation, autoimmunity and immunodeficiency with minimal metaphyseal changes due to compound heterozygosity for two novel ACP5 mutations. These findings extend the phenotypic spectrum of SPENCD and indicate that ACP5 mutations can cause severe immune dysregulation and neurological impairment even in the absence of metaphyseal dysplasia.

Topics: Acid Phosphatase; Autoimmune Diseases; Autoimmunity; Bone Diseases; Child; Female; Humans; Immunologic Deficiency Syndromes; Inflammation; Isoenzymes; Magnetic Resonance Imaging; Muscle Spasticity; Mutation; Osteochondrodysplasias; Tartrate-Resistant Acid Phosphatase; Tomography, X-Ray Computed

Topics: Acid Phosphatase; Adult; Antibody Formation; Humans; Immunologic Deficiency Syndromes; Leukemia, Lymphoid; Lymphocytes; Male; Pokeweed Mitogens

Activity of lysosomal acid phosphatase in peripheral blood lymphocytes of mice fed a low-Zn diet has been studied. The study comprised 40 CBA T6T6 mice, female, aged 8 weeks, with body weight equal to about 18.0 g. The animals were fed during 10 days with a low-Zn diet. This latter diet, as well as the control one contained 0.8 mg% and 11.4 mg% of zinc, respectively; potable water contained 0.06 mg% of this element. Activity of the enzyme was determined semiquantitatively using cytochemical method of Barka and Anderson. Peripheral blood lymphocytes in mice fed a low-Zn diet exhibited statistically significant lowering of the intracellular enzyme activity when compared with control groups. Absolute count of enzyme-positive lymphocytes was also significantly lowered. The Authors discuss the importance of their observations for evaluation of immune reactivity in trace-elements-deficient animals.

Topics: Acid Phosphatase; Animals; Antibody Formation; Female; Immunologic Deficiency Syndromes; Lymphocytes; Lysosomes; Mice; Zinc

Topics: Acid Phosphatase; Alkaline Phosphatase; Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Catalase; Cell Line; Culture Techniques; Cystic Fibrosis; Cystinosis; Diffuse Cerebral Sclerosis of Schilder; Humans; Immunologic Deficiency Syndromes; Leukocytes; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Methods; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Muscular Dystrophies; Myotonia; Refsum Disease; Skin

Topics: Acid Phosphatase; Chromosome Aberrations; Culture Techniques; Cytoplasmic Granules; Esterases; Female; Humans; Immunologic Deficiency Syndromes; Infant; Karyotyping; Leukocytes; Lymphocyte Activation; Lymphocytes; Lysosomes; Microscopy, Fluorescence; Surface-Active Agents

Quantitative chemical analyses of the subcellular distribution patterns for acid and alkaline phosphatase, beta glucuronidase and peroxidase were obtained for human peripheral blood leukocytes of four patients with chronic granulomatous disease (CGD). Five young adults with acute infections served as controls. The observations were made on fractions obtained by homogenization and centrifugation of leukocytes previously incubated with or without particles for ingestion. Distributions in resting CGD and normal cells were very similar for acid and alkaline phosphatase and peroxidase, but the proportion of beta glucuronidase in the granule fraction of CGD cells was depressed, with an increased proportion in the soluble fraction. Release of granule-bound enzymes during phagocytosis of a variety of particles was the same for CGD and control cells, except that release of beta glucuronidase was less marked in CGD cells. Total enzymatic activity of CGD cells for the hydrolases studied was normal. The data indicated that granular enzymes are released in a normal fashion in phagocytizing CGD cells. Supportive evidence of release of enzymes into the phagocytic vacuole of CGD cells was obtained by an electron microscopic study of myeloperoxidase.

Topics: Acid Phosphatase; Alkaline Phosphatase; Glucuronidase; Histocytochemistry; Humans; Immunologic Deficiency Syndromes; Leukocytes; Microscopy, Electron; Peroxidases; Phagocytosis