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Fig. 1 | BMC Pediatrics

Fig. 1

From: Intermittent low platelet counts hampering diagnosis of X-linked thrombocytopenia in children: report of two unrelated cases and a novel mutation in the gene coding for the Wiskott-Aldrich syndrome protein

Fig. 1

Patient 1. a Pedigree. The proband (III-1) is the only affected family member with X-linked thrombocytopenia. Mother is indicated as carrier. b Patient’s platelet count profile with intermittent thrombocytopenia without any clinically detectable triggering factor. c Patient’s peripheral blood smear with two platelets, one normal sized and a small platelet (arrow). d Wiskott-Aldrich syndome protein (WASP) expression analyzed by flow cytometry in monocytes and lymphocytes. In comparison to normal control, patient 1 showed reduced expression of WASP in both monocytes and lymphocytes (white histograms). Gray histograms represent isotype negative control antibody. e WASP gene sequencing from patient 1, with a C > T missense mutation in exon 2

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BMC Pediatrics

ISSN: 1471-2431

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