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Fig. 2 | BMC Pediatrics

Fig. 2

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. 2

Patient 2. a Pedigree. X-linked thrombocytopenia was diagnosed only in the proband (III-6), and his mother was heterozygous for the mutation in Wiskott-Aldrich syndome protein (WASP) gene. b Patient’s platelet counts with intermittent thrombocytopenia pattern not associated to infection or any other triggering factor. c Patient’s peripheral blood smear showing a normal sized and a small platelet (arrow). d Reduced expression of WASP in monocytes and lymphocytes from patient 2 compared to normal control (white histograms) by flow cytometry. Isotype negative control antibody is shown in gray. e Sequencing of the WASP gene from patient 2, showing a C > T nucleotide change in exon 2

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BMC Pediatrics

ISSN: 1471-2431

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