Antibody Deficiency Syndromes  

Oleh:

Sorensen, Ricardo U. ; Moore, Cleveland

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Pediatric Clinics of North America vol. 47 no. 06 (Dec. 2000), page 1225-1252.
Topik: Primary Immune Deficiencies ( Presentation; Diagnosis; Management)

Ketersediaan

Perpustakaan FK Nomor Panggil: P13.K.2000.06 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Antibodies play a crucial role in protecting against infections, and antibody deficiencies are the most frequently reported immunodeficiencies in different areas of the world. The spectrum of antibody deficiencies ranges from severe deficiencies of all immunoglobulins (agammaglobulinemia) to milder, but clinical relevant, deficiencies of specific antibodies in patients with normal immunoglobulin concentrations. Antibody deficiencies may be the only abnormality present in a patient, or antibodies may be present and aggravate the symptoms of a variety of other conditions. Because the presence of an antibody deficiency is very difficult to predict from its clinical presentation only, it is important to perform an evaluation of antibody-mediated immunity, even knowing that, in many cases, the result will be normal. When immunizations are included as part of the evaluation scheme, many patients experience a benefit from enhanced immunity against pathogens. Advances in the understanding of the molecular and genetic bases of many of the antibody deficiency syndromes now allow the identification of different molecular defects causing the same immunologic phenotype and also the recognition that mutations of the same gene may have very different genotypic expressions in different patients. When information about a gene defect is obtained for a patient, knowledge of the mutation allows carrier and heterozygote identification and also identification of the abnormality in patients and family members with atypical clinical features and immunological abnormalities.

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