Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.

doi:10.1007/s10875-013-9927-9

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Article

Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.

Journal of clinical immunology - 1 Oct 2013

Boonyawat Boonchai, Dhanraj Santhosh, Al Abbas Fahad, Zlateska Bozana, Grunenbaum Eyal, Roifman Chaim M, Steele Leslie, Meyn Stephen, Blanchette Victor, Scherer Stephen W, Swierczek Sabina, Prchal Josef, Zhu Qili, Torgerson Troy R, Ochs Hans D, Dror Yigal

Abstract excerpt

OBJECTIVE: Disorders linked to mutations in the X chromosomes typically affect males. The aim of the study is to decipher the mechanism of disease expression in a female patient with a heterozygous mutation on the X-chromosome. PATIENTS AND METHODS: Clinical data was extracted from the Canadian Inherited Marrow Failure Registry. Genomic ribonucleic acid (DNA) and complementary DNA (cDNA) underwent Sanger...

Topics

Antibody Formation
DNA Methylation
Female
Genes, X-Linked
Genotype
Humans
Immunity
Infant
Infant, Newborn
Microarray Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Polymorphism, Single Nucleotide

T-Lymphocytes

Thrombocytopenia

Wiskott-Aldrich Syndrome

Wiskott-Aldrich Syndrome Protein Family

Source

Open in PubMed

Identifiers

PMID: 23943155
DOI: 10.1007/s10875-013-9927-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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