Hematopoietic stem cell transplantation from a donor with Klinefelter syndrome for Wiskott–Aldrich syndrome

Abstract

WAS is a rare X-linked recessive disorder characterized by primary progressive T cell immunodeficiency, impaired antipolysaccharide antibody response, thrombocytopenia with small platelet, and eczematoid dermatitis. Untreated patients with typical WAS have poor prognosis with the major causes of death being infection, bleeding, lymphoproliferative disorders, and malignancy. Due to the increased risk of infectious and hemorrhagic episodes the best results with HSCT are achieved in patients less than five yr of age and are recommended as early as possible. Here, we report a three-yr-old boy with WAS who underwent UCB and BMT from his genotypically identical brother with Klinefelter syndrome.

Donor-derived 47, XXY in an unrelated cord blood transplant recipient

“…These analyses identify indirectly the karyotype of donor cells. Various types of constitutional abnormalities of karyotype have been reported to be transmitted after allogeneic hematopoietic stem cell transplantation as shown in Table 1 (Graze et al 1977; Becher et al 1986; Kuffel et al 1991; Barquinero et al 1995; Halaburda et al 2000; Moore et al 2005; Manola et al 2006; Ismail et al 2007; Balci et al 2008; Frey et al 2008; Consoli et al 2011). All donors with Down syndrome were identified before stem cell donations as the manifestations of Down syndrome were evident.…”

X-linked Chronic Granulomatous Disease in a male child with an X-CGD carrier, Klinefelter brother

“…Similarly the KS sibling of a Wiskott Aldrich patient was discovered because he was a candidate donor for his affected brother. 16 The co-segregation of KS has also been observed at a low frequency in a number of X-linked syndromes. 17,18 One of these, Incontinentia pigmenti (IP) is distinctive in that it is normally fatal in males.…”

“…This study brings the number of reported cases where KS is associated with X-PIDs to 5. These cases argue for family members to be included in investigations of PID patients, 9,13,15,16 for two main reasons. Firstly, as these studies suggest, other concurrent and potentially modifying, genetic abnormalities may surface.…”

X-chromosomale Intelligenzminderung

“…Rezessive X-chromosomale Mutationen führen in Verbindung mit dem Turner-Syndrom (45,X) zum Vollbild der Erkrankung auch bei Mädchen, und männliche Anlageträger werden bei gleichzeitigem Vorliegen eines Klinefelter-Syndroms (47,XXY) vor den klinischen Auswirkungen weitgehend geschützt. Angesichts der Häufigkeit sowohl von Turner-als auch Klinefelter-Syndrom überrascht es nicht, dass beide Szenarien schon mehrfach in Kombination mit verschiedenen X-chromosomalen Krankheitsbildern beschrieben worden sind [4,19].…”