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Novel BTK mutation in X-linked agammaglobulinemia: Report of a 17-year-old male. 2021

Zoha Shaka, and Helia Mojtabavi, and Elham Rayzan, and Samaneh Zoghi, and Sepideh Shahkarami, and Jimenez Heredia Raul, and Iraj Sedighi, and Kaan Boztug, and Nima Rezaei
School of Medicine, Iran University of Medical Sciences, Tehran, Iran.

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

UI MeSH Term Description Entries
D007492 Iran A country bordering the Gulf of Oman, the Persian Gulf, and the Caspian Sea, between Iraq and Pakistan. The capital is Tehran. Islamic Republic of Iran
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005820 Genetic Testing Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000077329 Agammaglobulinaemia Tyrosine Kinase A non-receptor tyrosine kinase that is essential for the development, maturation, and signaling of B-LYMPHOCYTES. It contains an N-terminal zinc finger motif and localizes primarily to the PLASMA MEMBRANE and nucleus of B-lymphocytes. Mutations in the gene that encode this kinase are associated with X-LINKED AGAMMAGLOBULINEMIA. B Cell Progenitor Kinase,Bruton's Tyrosine Kinase,Bruton Tyrosine Kinase,Brutons Tyrosine Kinase,Kinase, Agammaglobulinaemia Tyrosine,Kinase, Bruton's Tyrosine,Tyrosine Kinase, Agammaglobulinaemia,Tyrosine Kinase, Bruton's
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000361 Agammaglobulinemia An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood. Hypogammaglobulinemia,Agammaglobulinemias,Hypogammaglobulinemias
D020125 Mutation, Missense A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) Missense Mutation,Missense Mutations,Mutations, Missense

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