1,721,040 research outputs found
[Granulocyte disorders].
No full textThe various "in vitro" tests for evaluating polymorphonuclear leucocyte function in children with recurrent infections are described and the different clinical conditions caused or accompanied by defects in polymorphonuclear function are summarized briefly. The necessity of correct interpretation of the results of the laboratory tests used in the diagnostic evaluation of patients with suspected immunodeficiency is stressed
Immunodeficiency with hyper-IgM (HIM).
No full textImmunodeficiency with hyper-IgM (HIM) is a rare disorder characterized by recurrent infections associated with low IgG and IgA, and normal to increased IgM serum levels. Both primary and secondary forms of HIM syndrome have been reported. Among primary HIM syndrome, evidence for genetic heterogeneity is provided by the occurrence of the disease as X-linked, autosomal recessive, or autosomal dominant trait. The most common clinical manifestations include upper and lower respiratory tract infections, otitis, diarrhoea, oral ulcers, lymphoid hyperplasia, and autoimmunity. Recurrent neutropaenia is a frequent finding. Immunological abnormalities consist of lack of IgG and IgA secretion, and failure to respond to vaccination. Lymph nodes show absence of germinal centres. Few patients with a concurrent T-cell defect, and clinical expression of combined immune deficiency, have been reported. The gene responsible for the X-linked HIM syndrome (HIGM1) has been tentatively assigned to Xq24-27. However, carrier detection and prenatal diagnosis are not yet possible. Pathogenetic hypotheses include failure of B-cell differentiation, and defective regulation of immunoglobulin isotype switching due to abnormal T-cell-mediated signals. Treatment is mainly based upon regular administration of intravenous immunoglobulins. Steroids may be useful in the treatment of neutropaenia and of severe autoimmune manifestations
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations
No full textSevere combined immunodeficiency (SCID) comprises a heterogeneous group of primary immunodeficiencies, a proportion of which are due to mutations in either of the 2 recombination activating genes (RAG)-1 and -2, which mediate the process of V(D)J recombination leading to the assembly of antigen receptor genes. It is reported here that the clinical and immunologic phenotypes of patients bearing mutations in RAGs are more diverse than previously thought and that this variability is related, in part, to the specific type of RAG mutation. By analyzing 44 such patients from 41 families, the following conclusions were reached: (1) null mutations on both alleles lead to the T-B-SCID phenotype; (2) patients manifesting classic Omenn syndrome (OS) have missense mutations on at least one allele and maintain partial V(D)J recombination activity, which accounts for the generation of residual, oligoclonal lymphocytes; (3) in a third group of patients, findings were only partially compatible with OS, and these patients, who also carried at least one missense mutation, may be considered to have atypical SCID/OS; (4) patients with engraftment of maternal T cells as a complication of a transplacental transfusion represented a fourth group, and these patients, who often presented with a clinical phenotype mimicking OS, may be observed regardless of the type of RAG gene mutation. Analysis of the HAG genes by direct sequencing is an effective way to provide accurate diagnosis of RAG-deficient as opposed to RAG-independent V(D)J recombination defects, a distinction that cannot be made based on clinical and immunologic phenotype alone. (C) 2001 by The American Society of Hematology
Subcutaneous infusion of gamma globulins in the management of agammaglobulinemic patients.
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Expansion of the CD19hi CD21low B cell subset correlates with severe B cell lymphopenia in CVID patients
No full textPrimary immunodeficiencies: milestones in the history of pediatric immunology.
No full textPediatric immunology is a recent and important branch of pediatrics. Besides development of vaccines, the discovery of primary immunodeficiencies has represented a major contribution in the history of pediatric immunology. Characterization of these disorders as inborn errors of immunity has been crucial for understanding the functional organization and ontogeny of the immune system. Thus, progress in the study of immunodeficiency diseases has contributed to progress in pediatric immunology as a whole. As a result of these advances and a major biotechnology breakthrough, new therapeutic strategies have been devised. The benefits of these strategies extend far beyond the area of immunodeficiencies; they permit better care of infants and give new therapeutic approaches to other inherited disorders
The lesson of agammaglobulinemia 40 years after Bruton's discovery.
No full textForty years after Bruton's discovery, the spectrum of primary defects of immunoglobulins has been largely extended and characterized. An increasingly more accurate recognition of the basic pathogenetic mechanisms of disease has helped to design more effective drugs and therapeutic strategies for patients with both primary and secondary immune deficiencies. In recent years, major advances in molecular biology have allowed characterization of the genetic basis of many primary immunodeficiencies, resulting in more accurate genetic counseling and leading to the first successful application of genetic therapy to the treatment of a human disease
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