A novel mutation of WAS gene in a boy with Mycobacterium bovis infection in spleen.
Asian Pac J Allergy Immunol
; 35(3): 166-170, 2017 Sep.
Article
em En
| MEDLINE
| ID: mdl-27996282
ABSTRACT
Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disorder caused by mutations of the gene encoding WAS protein (WASp). A scoring system has been used to grade severity of the disease. However, the phenotype of the disease may progress over time, especially in children younger than 2 years of age. Here, we report a male child who presented with X-linked thrombocytopenia (XLT). Mutation analysis revealed a novel hemizygous 13-bp deletion (c.181_193delGCTGAGCACTGGA) on exon 2 of the WAS gene. This frameshift mutation resulted in a premature terminating codon at position 71 (p.A61fsX10). Molecular analysis of maternal DNA revealed a heterozygosity of the same mutation. The disease progressed to classic WAS within 8 months. Later, gastric varices as a consequence of Mycobacterium bovis infection in the spleen was detected. The rapid worsening of the disease may be due to the severe genotype of this patient.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Baço
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Síndrome de Wiskott-Aldrich
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Proteína da Síndrome de Wiskott-Aldrich
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Mutação
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Mycobacterium bovis
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Infecções por Mycobacterium
Tipo de estudo:
Diagnostic_studies
Limite:
Animals
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article