Somatic D816V KIT mutation in a case of adult-onset familial mastocytosis

The presence of the D816V mutation was also investigated on genomic DNA from total peripheral blood (PB) and from fluorescence-activated cell sorting-purified populations of PB neutrophils, monocytes, and lymphocytes, by allele-specific real-time quantitative PCR.6 Genomic DNA from total PB sample o...

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Published in:Journal of allergy and clinical immunology 2013-02, Vol.131 (2), p.605-607
Main Authors: Zanotti, Roberta, MD, Simioni, Livio, MD, Garcia-Montero, Andres C., PhD, Perbellini, Omar, MD, Bonadonna, Patrizia, MD, Caruso, Beatrice, MD, Jara-Acevedo, Maria, MSc, Bonifacio, Massimiliano, MD, De Matteis, Giovanna, PhD
Format: Article
Language:English
Subjects:
Adult
Allergy and Immunology
Animals
Biological and medical sciences
Bone marrow
Cell growth
Cellular biology
Deoxyribonucleic acid
DNA
Female
Fundamental and applied biological sciences. Psychology
Fundamental immunology
Histology
Humans
Hymenoptera - immunology
Immunopathology
Immunotherapy
Laboratories
Lymphocytes
Male
Mastocytosis, Systemic - genetics
Mastocytosis, Systemic - immunology
Medical sciences
Middle Aged
Mutation
Patients
Pediatrics
Proto-Oncogene Proteins c-kit - genetics
Proto-Oncogene Proteins c-kit - immunology
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
Signal transduction
Venom
Venoms - immunology
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Summary:The presence of the D816V mutation was also investigated on genomic DNA from total peripheral blood (PB) and from fluorescence-activated cell sorting-purified populations of PB neutrophils, monocytes, and lymphocytes, by allele-specific real-time quantitative PCR.6 Genomic DNA from total PB sample of the son showed a slight positivity (2.5%-5%) of the D816V KIT mutation, whereas the mother was negative, which would confirm that it was not a case of germline but somatic mutation. [...]analysis of genomic DNA from purified PB cell populations of the son revealed that only monocytes and granulocytes carried the D816V KIT mutation while T lymphocytes were negative for this mutation.
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2012.11.040