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Query: UMLS:C0027947 (neutropenia)
 17,527 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autoimmune neutropenia is thought to be an uncommon disorder in adults. Over a 2-year period, however, autoimmune neutropenia was diagnosed in seven adults in a county with a population of approximately 105,000 people. The median age of the patients was 52 years old (range of 22 to 81 years), and five of the seven patients were women. All seven patients had at least one other symptom of autoimmune disease. Three patients had splenomegaly, three patients had positive direct antiglobulin tests, and two patients had immune thrombocytopenia. Antibodies reacting to neutrophils were detected by either granulocyte agglutination (GA) or granulocyte immunofluorescence (GIF) testing in five of the seven patients. Antibodies in four patients reacted with an 80 kd neutrophil membrane glycoprotein, and antibodies from two people reacted with a 60 kd membrane glycoprotein. Three patients were given treatment with splenectomy, which resulted in only transient improvement in the neutrophil counts. Serious infections occurred in only three patients over the 2 years of observation. In summary, autoimmune neutropenia in adults may occur more often than appreciated. Most cases of autoimmune neutropenia in adults appear to be associated with other autoimmune phenomena.
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PMID:Autoimmune neutropenia in Sheboygan County, Wisconsin. 159 17

The healthy mother of a child with transient immune neutropenia was found to be "NA-null." The mother's neutrophils did not react with anti-NA1 and anti-NA2 antibodies (polyclonal human alloantibodies and mouse monoclonal antibodies). A healthy donor was discovered during routine neutrophil antigen typing whose neutrophils were also "NA-null." This NA-phenotype was due to the absence of FcRIII (CD16 antigen) on neutrophils as demonstrated with anti-FcRIII monoclonal antibodies. The neutrophils of these two individuals were not able to bind dimeric immunoglobulin G. However, their cells had a normal expression of other phosphatidylinositol (PI)-linked membrane glycoprotein (CD24, CD67, and CLB gran/5 antigens), ruling out the existence of a PI-linkage defect, such as paroxysmal nocturnal hemoglobinuria. The mother (propsitus) had isoantibodies in her blood against neutrophil-FcRIII without allospecificity, apparently produced during pregnancy and responsible for the neutropenia of her child. The expression of FcRIII on natural killer lymphocytes of both individuals was normal. FcRIII is encoded by two separate genes, one (FcRIII-1) for the neutrophil-PI-linked receptor, another (FcRIII-2) for the natural killer cell and macrophage-transmembrane receptor. By messenger RNA and DNA analysis (with an FcRIII-cDNA probe and restriction endonucleases) the neutrophil-FcRIII deficiency appeared to be due to deletion of the FcRIII-1 gene in both individuals, while the FcRIII-2 gene was normally present. The parents of the propositus were found to be heterozygous for this defect. Thus, FcRIII-1 gene deficiency of the mother may be a cause of (iso)immune neutropenia of the newborn. Whether this deficiency may have other clinical consequences has to be studied.
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PMID:Maternal genomic neutrophil FcRIII deficiency leading to neonatal isoimmune neutropenia. 183 May 1

Bernard-Soulier syndrome is an inherited bleeding abnormality characterized by thrombocytopenia with large platelets and deficiency of the platelet membrane glycoprotein (GP) Ib-IX complex. We have identified a young female with an acquired Bernard-Soulier-like platelet defect and a coexisting primary myelodysplastic disorder. Abnormal bruising had developed at age 5. A normal platelet count with some giant platelets was noted at age 7. At age 9 she developed a large haematoma following surgery. Laboratory investigation revealed thrombocytopenia and large platelets. Platelet membrane glycoprotein analysis showed a marked deficiency of the components of the GP Ib-IX complex (approximately equal to 25% of normal). Flow cytometry revealed two populations of platelets: a predominant population of large platelets lacking the GP Ib-IX complex and a minor population of normal-sized platelets with normal GP Ib-IX expression. The patient developed progressive anaemia, more severe thrombocytopenia and neutropenia, and circulating blast cells were seen. A bone marrow showed gross hypercellularity with marked dysplasia of all three lineages and increased blasts. Marrow cytogenetic studies showed the presence of monosomy 7 in all metaphases, with an additional trisomy 21 in 10%. Peripheral blood cells were normal 46XX. The above data are consistent with an acquired myelodysplastic syndrome associated with a Bernard-Soulier-like platelet defect.
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PMID:An acquired Bernard-Soulier-like platelet defect associated with juvenile myelodysplastic syndrome. 334 99