Clinical and Molecular Characterization of Thai Patients with Wiskott-Aldrich Syndrome
| Autor: | Darintr Sosothikul, Pramuk Amarinthnukrowh, S. Ittiporn, Pantipa Chatchatee, Kanya Suphapeetiporn, Siraprapa Tongkobpetch, Vorasuk Shotelersuk |
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| Rok vydání: | 2012 |
| Předmět: |
Male
Ganciclovir Wiskott–Aldrich syndrome DNA Mutational Analysis Immunology Nonsense mutation medicine.disease_cause medicine Humans Genetic Predisposition to Disease Gene Mutation Polymorphism Genetic Angioedema business.industry Infant Newborn Infant General Medicine Thailand medicine.disease Pedigree Wiskott-Aldrich Syndrome Child Preschool Primary immunodeficiency Mutation testing Female Anemia Hemolytic Autoimmune medicine.symptom business Wiskott-Aldrich Syndrome Protein medicine.drug |
| Zdroj: | Scandinavian Journal of Immunology. 77:69-74 |
| ISSN: | 0300-9475 |
| DOI: | 10.1111/sji.12004 |
| Popis: | Wiskott–Aldrich syndrome (WAS) is an X-linked recessive primary immunodeficiency disorder caused by mutations in the gene encoding the WAS protein (WASP). Classic WAS is characterized by thrombocytopenia with small-sized platelets, recurrent infections, eczema and increased susceptibility to autoimmune diseases and haematologic malignancies. Here, we reported on seven unrelated Thai individuals with classic WAS. In addition to clinical and immunologic characterization, mutation analysis by PCR-sequencing the entire coding region of WASP was performed. Recurrent and novel mutations were successfully identified. A nonsense mutation, the c.55C>T (p.Q19X), has not been previously described, expanding the mutational spectrum of WASP. The patient with this newly described mutation developed cow's milk allergy manifesting as angioedema and urticaria and had cytomegalovirus infection that was successfully treated with long-term ganciclovir. This study reported long-term follow-up of seven patients with molecular confirmation of WAS and infrequent features in the patient with classic WAS carrying the novel nonsense mutation. |
| Databáze: | OpenAIRE |
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