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http://purl.uniprot.org/citations/26910880http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/26910880http://www.w3.org/2000/01/rdf-schema#comment"

Objectives

Impairment in early B-cell development can cause a predominantly antibody deficiency with severe depletion of peripheral B-cells. Mutations in the gene encoding for Bruton's-tyrosine-kinase (BTK) and the components of the pre-B-cell receptor complex or downstream signaling molecules have been related to this defect in patients with agammaglobulinemia.

Methods

Iranian patients with congenital agammaglobulinemia were included and the correlation between disease-causing mutations and parameters such as clinical and immunologic phenotypes were evaluated in available patients.

Results

Out of 87 patients, a molecular investigation was performed on 51 patients leading to identification of 39 cases with BTK (1 novel mutation), 5 cases of µ-heavy chain (3 novel mutations) and 1 case of Igα-deficiencies.

Conclusion

Although there is no comprehensive correlation between type of responsible BTK mutation and severity of clinical phenotype, our data suggest that BTK-deficient and autosomal recessive agammaglobulinemia patients differ significantly regarding clinical/immunologic characteristics."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.org/dc/terms/identifier"doi:10.1586/1744666x.2016.1139451"xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/author"Plebani A."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/author"Hammarstrom L."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/author"Vitali M."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/author"Mahdaviani S.A."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/author"Rezaei N."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/author"Giliani S."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/author"Abolhassani H."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/author"Aghamohammadi A."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/author"Cheraghi T."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/author"Parvaneh N."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/author"Parvaneh L."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/author"Lougaris V."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/author"Negahdari B."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/author"Mohammadi J."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/author"Mirminachi B."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/author"Khazaei H."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/author"Kiaei F."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/author"Tavakolinia N."xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/date"2016"xsd:gYear
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/name"Expert Rev Clin Immunol"xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/pages"479-486"xsd:string
http://purl.uniprot.org/citations/26910880http://purl.uniprot.org/core/title"Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects."xsd:string
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