Novel BTK mutation in X-linked agammaglobulinemia: Report of a 17-year-old male.

Abstract

INTRODUCTION AND OBJECTIVES:

X-linked agammaglobulinemia (XLA), the first known primary immunodeficiency, is caused by rare mutations in Bruton's tyrosine kinase (BTK) gene. Mutations in the BTK gene lead to a failure in the development and maturation of B-cell linage. A decreased number of B-cells results in agammaglobulinemia and increased susceptibility to a variety of infections. Therefore, patients with XLA usually manifest with repetitive bacterial infections, such as upper respiratory tract infections, septic arthritis, osteomyelitis, and urinary tract infections, since their infancy.

PATIENTS:

We report a 17-year-old Iranian boy with XLA, referred to us with a history of severe and recurrent episodes of bacterial infections for a period of six years.

RESULTS:

Genetic analysis using the whole Exome sequencing revealed a hemizygous missense mutation in the BTK gene (c.428 A > T, p.His143Leu).

CONCLUSION:

To our knowledge, c.428 A > T has not been reported in the BTK gene.

• Authors: Zoha Shaka, Helia Mojtabavi, Elham Rayzan, Samaneh Zoghi, Sepideh Shahkarami, Jimenez Heredia Raul, Iraj Sedighi, Kaan Boztug, Nima Rezaei
• Journal: Allergologia et immunopathologia (Allergol Immunopathol (Madr)) Vol. 49 Issue 2 Pg. 80-83 ( 2021) ISSN: 1578-1267 [Electronic] Singapore
• PMID: 33641298 (Publication Type: Case Reports, Journal Article)

Chemical References

• Agammaglobulinaemia Tyrosine Kinase
• BTK protein, human

Topics

• Adolescent
• Agammaglobulinaemia Tyrosine Kinase (genetics)
• Agammaglobulinemia (blood, diagnosis, genetics, immunology)
• DNA Mutational Analysis
• Genetic Diseases, X-Linked (blood, diagnosis, genetics, immunology)
• Genetic Testing
• Humans
• Iran
• Male
• Mutation, Missense
• Pedigree