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  • 1
    ISSN: 1432-1076
    Keywords: Neonatal neutropenia ; Iso-immune neutropenia ; Anti-neutrophil antibody ; CD16 molecule
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a case of transient neonatal neutropenia due to a maternal iso-immunization against a non polymorphic region of the glycosylphosphatidylinositollinked Fc receptor type III (CD16) on granulocytes. The mother's granulocytes were typed NA1-negative, NA2-negative and CD16-negative with human and monoclonal antibodies whereas her lymphocytes express the CD16 molecule. Expression of other markers were comparable to the controls. Flow cytometric analysis showed that maternal antibody recognized the granulocytes but not the lymphocytes from blood bank donors and that its binding was decreased on normal, phospholipase C-treated, granulocytes. The binding of commercial CD16 monoclonal antibodies was also dramatically decreased on normal granulocytes pre-incubated with maternal serum. The CD16 specificity of the antibody was confirmed by negative reactions with another CD16-deficient granulocytes. This observation leads us to conclude that celllineage specific differences of CD16 molecules are recognized by the patient's antibody. Moreover, we confirm that the absence of the FcRIII (CD16) on granulocytes is not associated with any pathology or susceptibility to infections and that, in the children, the blockade of this receptor by the maternal antibody only led to moderate neutropenia.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We report a case of a boy with Duchenne muscular dystrophy (DMD) associated with GK deficiency (GK), congenital adrenal hypoplasia (AHC), and mental retardation. Cytogenetic analysis of prometaphasic chromosomes revealed an interstitial chromosome deletion at Xp21.2 possibly extending to Xp21.1 or Xp21.3. His phenotypically normal mother was heterozygous for this deletion. DNA probe analysis on Southern blots showed that the deletion affected the following probe sites: 754, pERT 84, 21A, XJ2.3, pERT 87, JBir, and J66-H1, whereas L1, C7, and CX5.4 probes gave a normal signal. Pulse field gel electrophoresis after SfiI digestion did not show abnormal fragments with L1. These data are consistent with a deletion of about 4 megabases and indicate that the GK and AHC loci are proximal to L1 and distal to J66-H1.
    Type of Medium: Electronic Resource
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