vitamin-b-12 and Agammaglobulinemia

We have described two patients with pernicious anemia in whom incidental hypogammaglobulinemia was discovered. According to our review of 41 cases of this association reported in the literature, our patients are similar to those previously reported in their young age, the evidence for antral involvement with the atrophic gastritis, and the absence in one case of autoantibodies. They differ in their milder degree of hypogammaglobulinemia and in the previously unreported finding of improvement in gamma-globulin levels after vitamin B12 therapy.

Topics: Adult; Agammaglobulinemia; Anemia, Pernicious; Humans; Injections, Intramuscular; Male; Vitamin B 12

Topics: Adult; Agammaglobulinemia; Anemia, Pernicious; Autoantibodies; Autoimmune Diseases; Female; Gastric Juice; Humans; Immunity, Cellular; Infant, Newborn; Intrinsic Factor; Male; Middle Aged; Steroids; Stomach; Vitamin B 12

Topics: Abetalipoproteinemia; Agammaglobulinemia; Animals; Bile Acids and Salts; Biological Transport; Biopsy; Carbohydrate Metabolism; Celiac Disease; Deficiency Diseases; Dermatitis Herpetiformis; Digestion; Endocrine System Diseases; Glutens; Glycoside Hydrolases; Histocytochemistry; Humans; Intestinal Absorption; Intestinal Diseases, Parasitic; Intestinal Mucosa; Intestine, Small; Intestines; Lymphatic Diseases; Malabsorption Syndromes; Methods; Monosaccharides; Protein-Losing Enteropathies; Psoriasis; Radiography; Sprue, Tropical; Vitamin B 12; Whipple Disease

Autoimmune lymphoproliferative syndrome (ALPS) is mainly caused by defects in the CD95 pathway. Raised CD3+TCRαβ+CD4-CD8- double negative T cells and impaired T cell apoptosis are hallmarks of the disease. In contrast, the B cell compartment has been less well studied. We found an altered distribution of B cell subsets with raised transitional B cells and reduced marginal zone B cells, switched memory B cells and plasma blasts in most of 22 analyzed ALPS patients. Moreover, 5 out of 66 ALPS patients presented with low IgG and susceptibility to infection revealing a significant overlap between ALPS and common variable immunodeficiency (CVID). In patients presenting with lymphoproliferation, cytopenia, hypogammaglobulinemia and impaired B cell differentiation, serum biomarkers were helpful in addition to apoptosis tests for the identification of ALPS patients. Our observations may indicate a role for apoptosis defects in some diseases currently classified as CVID.

Topics: Adolescent; Adult; Agammaglobulinemia; Apoptosis; Autoimmune Lymphoproliferative Syndrome; B-Lymphocytes; Biomarkers; Child; Child, Preschool; Common Variable Immunodeficiency; Diagnosis, Differential; Fas Ligand Protein; fas Receptor; Flow Cytometry; Humans; Immunoglobulin G; Interleukin-10; Middle Aged; Monocytes; Phenotype; T-Lymphocytes; Vitamin B 12

Topics: Adult; Agammaglobulinemia; Anemia, Pernicious; Drug Therapy, Combination; Humans; Immunoglobulins; Immunologic Factors; Male; Treatment Outcome; Vitamin B 12; Vitamin B Complex

Topics: Adenocarcinoma; Adolescent; Adult; Agammaglobulinemia; Anemia, Pernicious; Gastrectomy; Gastrointestinal Neoplasms; Genetic Diseases, X-Linked; Humans; Male; Recurrence; Vitamin B 12; Vitamin B 12 Deficiency

Three pernicious anemia (PA) patients with selective IgA deficiency and anti-IgA antibodies in their sera were followed for over 3 years. After instituting therapy with cyanocobalamin there was a slight increase in the anti-IgA antibodies. After 1 year the titers of anti-IgA antibodies in the sera of these patients declined significantly as compared to the values before treatment (P less than 0.02), and after 2 years one patient had no measurable anti-IgA antibodies, yet no IgA appeared in the serum of any of the three. Further, in a medium with no anti-IgA the lymphocytes of these patients were not capable of producing IgA in vitro. Thus, the reason for the IgA deficiency in PA appears to be linked to the function of B cells rather than to anti-IgA antibodies.

Topics: Adolescent; Adult; Agammaglobulinemia; Aged; Anemia, Pernicious; Antibodies, Anti-Idiotypic; Autoantibodies; Autoimmune Diseases; Humans; IgA Deficiency; Immunoglobulin A; Male; Middle Aged; Secretory Component; Vitamin B 12

An infant with transcobalamin II deficiency had the unusual feature of a low serum cobalamin level. Moreover, the level did not rise greatly with cobalamin therapy. Clinically, the features of the infant's illness were unexceptional other than the somewhat delayed onset of symptoms at 3 1/2 months of age. In addition, the patient's impaired antibody response to specific antigen challenge was not completely corrected following cobalamin therapy, and this result contrasts with the findings in the only previous examination of this feature of the disorder. As in previous cases, the transcobalamin II deficiency was accompanied by findings in the serum of complexing of the patient's R binder and the relative prominence of a cobalamin-binding peak eluting at a molecular weight of approximately 70,000 on Sephadex G-200 gel chromatography. In addition, the total serum R binder (free and complexed) level was low. This case demonstrates that transcobalamin II deficiency should be considered in any infant with a low serum cobalamin level in the first few months of life.

Topics: Agammaglobulinemia; Antibody Formation; Chromatography, Gel; Female; Humans; Immune Tolerance; Infant, Newborn; Injections, Intramuscular; Radioimmunoassay; Transcobalamins; Vitamin B 12

Topics: Achlorhydria; Adult; Agammaglobulinemia; Anemia, Hypochromic; Gastritis; Humans; Intestinal Absorption; Male; Vitamin B 12

Topics: Adenosine; Agammaglobulinemia; Aminohydrolases; Anemia, Pernicious; Antibody Formation; B-Lymphocytes; Binding Sites, Antibody; Bone Marrow Cells; Bone Marrow Transplantation; Cell Differentiation; Cell Membrane; Female; Fetus; Fluorescent Antibody Technique; gamma-Globulins; Gastrointestinal Diseases; Hematopoietic Stem Cells; Humans; Immunization, Passive; Immunoglobulin G; Immunoglobulin M; Immunoglobulins; Immunologic Deficiency Syndromes; Male; Vitamin B 12; Vitamin B 12 Deficiency; World Health Organization

Topics: Agammaglobulinemia; Alpha-Globulins; Anemia, Megaloblastic; Beta-Globulins; Blood Cell Count; Blood Platelets; Blood Transfusion; Bone Marrow; Bone Marrow Examination; Consanguinity; Humans; Infant, Newborn; Infant, Newborn, Diseases; Leukocyte Count; Male; Neutrophils; Pedigree; Protein Binding; Vitamin B 12; Vitamin B 12 Deficiency

Evidence of cell-mediated immunity to gastric intrinsic factor was present in 86% of patients with pernicious anaemia and in at least 13% of patients with hyperthyroidism, 21% of patients with atrophic gastritis, and four out of nine (46%) patients with hypogammaglobulinaemia. Controls gave negative results. The four patients with hypogammaglobulinaemia and cell-mediated immunity to intrinsic factor had evidence of impaired gastric function.

Topics: Agammaglobulinemia; Anemia, Pernicious; Antibodies; Autoimmune Diseases; Cell Migration Inhibition; Diabetes Mellitus; Female; Gastritis; Hematocrit; Humans; Hyperthyroidism; Hypothyroidism; Immunity, Cellular; Intestinal Absorption; Intrinsic Factor; Leukocytes; Lymphocyte Activation; Male; Vitamin B 12

Topics: Agammaglobulinemia; Aged; Anemia, Pernicious; Animals; Blood Protein Electrophoresis; Female; Horses; Humans; Immune Sera; Immunoelectrophoresis; Immunoglobulin A; Immunoglobulin Fragments; Immunoglobulin G; Immunoglobulin M; Male; Myeloma Proteins; Stimulation, Chemical; Vitamin B 12

Five patients with adult acquired hypogammaglobulinaemia, four of whom were achlorhydric, were studied. Jejunal bacterial counts were much higher than those in a control group of acid secretors, but were similar to those in a control group of patients with pernicious anaemia; Giardia lamblia were isolated from the jejunal content of all patients with hypogammaglobulinaemia. The concentration of conjugated bile acids in the fasting state was lower in hypogammaglobulinaemia than in pernicious anaemia, but in the two hypogammaglobulinaemic patients with steatorrhoea there was a normal bile salt response to a fatty meal.

Topics: Adult; Agammaglobulinemia; Aged; Anemia, Pernicious; Bile Acids and Salts; Biopsy; Celiac Disease; Fats; Feces; Female; Giardia; Humans; Immunoglobulin A; Intestine, Small; Intestines; Jejunum; Male; Middle Aged; Vitamin B 12

Topics: Agammaglobulinemia; Agranulocytosis; Anemia; Anemia, Hemolytic; Anemia, Hypochromic; Anemia, Macrocytic; Anemia, Sideroblastic; Antineoplastic Agents; Bone Marrow Diseases; Elliptocytosis, Hereditary; Female; Folic Acid; Folic Acid Deficiency; Humans; Iron; Myeloproliferative Disorders; Polycythemia Vera; Pregnancy; Primary Myelofibrosis; Spherocytosis, Hereditary; Thalassemia; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Agammaglobulinemia; Anemia, Pernicious; Antibodies; Arthritis; Blood Protein Electrophoresis; Bronchiectasis; Diarrhea; Humans; Male; Middle Aged; Prednisone; Radiography; Schilling Test; Vitamin B 12

Topics: Achlorhydria; Adult; Agammaglobulinemia; Anemia, Pernicious; Antibodies; Arthritis, Rheumatoid; Atrophy; Autoimmune Diseases; Colitis, Ulcerative; Diarrhea; Female; Fluorescent Antibody Technique; gamma-Globulins; Gastric Mucosa; Gastritis; Giardiasis; Humans; Hypersensitivity; Hypersensitivity, Delayed; Infections; Intrinsic Factor; Male; Middle Aged; Vitamin B 12

Topics: Agammaglobulinemia; Anemia; Anemia, Pernicious; Autoimmune Diseases; Blood Protein Electrophoresis; Cobalt Isotopes; Corrinoids; Genetics, Medical; Hematinics; Humans; Myxedema; Vitamin B 12

Topics: Agammaglobulinemia; Anemia; Anemia, Hypochromic; Anemia, Pernicious; Blood Proteins; Electrophoresis; Geriatrics; Humans; Vitamin B 12; Vitamin B 12 Deficiency