Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy

Because of the erythroderma and infectious problems combined with lymphocytopenia in peripheral blood, a primary immunodeficiency was suspected. The recurrence risk of UPD without chromosomal disturbances in parents is low (

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Bibliographic Details
Published in:Journal of allergy and clinical immunology 2013-07, Vol.132 (1), p.222-223
Main Authors: Geelen, Joyce, PhD, Pfundt, Rolph, PhD, Meijer, Judith, BASc, Verheijen, Frans W., PhD, van Kuilenburg, Andre B.P., PhD, Warris, Adilia, PhD, Marcelis, Carlo, MD
Format: Article
Language:English
Subjects:
Adenosine Deaminase - deficiency
Adenosine Deaminase - genetics
Agammaglobulinemia - genetics
Allergy and Immunology
Biological and medical sciences
Chromosomes
Chromosomes, Human, Pair 20
Female
Fundamental and applied biological sciences. Psychology
Fundamental immunology
Genes
Homozygote
Humans
Infant, Newborn
Medical sciences
Mutation
Phenotype
Respiratory distress syndrome
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
Severe Combined Immunodeficiency - genetics
Uniparental Disomy
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Description
Summary:Because of the erythroderma and infectious problems combined with lymphocytopenia in peripheral blood, a primary immunodeficiency was suspected. The recurrence risk of UPD without chromosomal disturbances in parents is low (
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2012.11.006