X-Linked Wiskott–Aldrich Syndrome in a Girl
Open Access
- 29 January 1998
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 338 (5) , 291-295
- https://doi.org/10.1056/nejm199801293380504
Abstract
The Wiskott–Aldrich syndrome is a life-threatening X-linked recessive disorder. Affected males present with recurrent infections, eczema, and thrombocytopenia with small platelets. The immune defect involves both humoral and cellular immunity and increases in severity with age.1Keywords
This publication has 18 references indexed in Scilit:
- A PCR-based non-radioactive X-chromosome inactivation assay for genetic counseling in X-linked primary immunodeficienciesLife Sciences, 1997
- WASPbase: a database of WAS- and XLT-causing mutationsImmunology Today, 1996
- Studies of the expression of the Wiskott-Aldrich syndrome protein.Journal of Clinical Investigation, 1996
- Two sisters with clinical diagnosis of Wiskott‐Aldrich syndrome: Is the condition in the family autosomal recessive?American Journal of Medical Genetics, 1995
- Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locusHuman Molecular Genetics, 1995
- Random X chromosome inactivation in a female with a variant of Wiskott‐Aldrich syndromeBritish Journal of Haematology, 1995
- Isolation of a novel gene mutated in Wiskott-Aldrich syndromeCell, 1994
- Nonrandom X chromosome DNA methylation patterns in hemophiliac females.Journal of Clinical Investigation, 1989
- X-Chromosome inactivation in the Wiskott-Aldrich syndrome: A marker for detection of the carrier state and identfication of cell lineages expressing the gene defectGenomics, 1989
- Review Lecture: Mechanisms and evolutionary origins of variable X-chromosome activity in mammalsProceedings of the Royal Society of London. B. Biological Sciences, 1974