The genotype of the original Wiskott phenotype.

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.

The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immune deficiency disorder characterized by thrombocytopenia, small platelet size, eczema, recurrent infections, and increased risk of autoimmune disorders and malignancies. X-linked thrombocytopenia (XLT) is an allelic variant of WAS which presents with a milder phenotype, generally limited to thrombocytopenia. WAS and XLT are caused ...

Genotype and phenotype of COVID-19: Their roles in pathogenesis

COVID-19 is a novel coronavirus with an outbreak of unusual viral pneumonia in Wuhan, China, and then pandemic. Based on its phylogenetic relationships and genomic structures the COVID-19 belongs to genera Betacoronavirus. Human Betacoronaviruses (SARS-CoV-2, SARS-CoV, and MERS-CoV) have many similarities, but also have differences in their genomic and phenotypic structure that can influence th...

kidd blood group genotyping in alloimmunized thallasemia patients

Abstract Background and Objectives Hemagglutination has limitations in identifying the phenotype of patients who have been recently transfused due to the presence of donor red cells (RBCs) in the patient’s circulation. Kidd blood group is one of the most important blood groups in transfusion medicine and related antibodies are responsible for one third of delayed haemolytic transfusion reactio...

Wiskott-Aldrich Syndrome (WAS): A Case Report in Mauritius and Review

Wiskott-Aldrich is an X-lined recessive disorder typically characterized by thrombocytopenia, eczema and recurrent infections. We report the four year treatment progress of a six year old boy who initially presented with vesicular lesions over the trunk, upper and lower extremities and face and blood tinged stools at the age of 2 weeks. From the family pedigree, there were two suspected cases t...