Infantile cortical hyperostosis associated with the Wiskott-Aldrich syndrome
✍ Scribed by M. Abinun; M. Mikuška; B. Filipović
- Publisher
- Springer
- Year
- 1988
- Tongue
- English
- Weight
- 539 KB
- Volume
- 147
- Category
- Article
- ISSN
- 0340-6997
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✦ Synopsis
A case report of an infant with the Wiskott-Aldrich syndrome and clinical and radiological features of infantile cortical hyperostosis (Caffey disease) is presented. This is the third case described of the association of these two rare disorders and gives further support to the role of an immunologic defect in the pathogenesis of infantile cortical hyperostosis.
📜 SIMILAR VOLUMES
Whole-blood cells of obligate carriers of the X-linked Wiskott-Aldrich syndrome (WAS) exhibit nonrandom inactivation of the X-chromosomes. However, because of the limited polymorphism of the probes available, the X-methylation pattern can only be determined in a restricted proportion of females. We
The Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disorder characterized by eczema, thrombocytopenia, and immunodeficiency. An allelic variant of the disease is characterized by isolated thrombocytopenia (XLT). The gene responsible for WAS/XLT (WASP) encodes for a 502 amino acid protei