exudates and Agammaglobulinemia

Bruton's tyrosine kinase (BTK) is a cytoplasmic protein involved in the B cell development. X-linked agammaglobulinemia (XLA) is caused by mutation in the. Twenty-two patients (from 16 unrelated families) were molecularly diagnosed as XLA. Genetic testing revealed fifteen distinct mutations, including four splicing mutations, four missense mutations, three nonsense mutations, three short deletions, and one large indel mutation. These mutations scattered throughout the. This report provides the first overview of demographic, clinical, immunological and genetic data of XLA in Malaysia. The combination of flow cytometric assessment and

Topics: Agammaglobulinaemia Tyrosine Kinase; Agammaglobulinemia; COVID-19; Female; Humans; Malaysia; Male; Pregnancy; Protein-Tyrosine Kinases

X linked agammaglobulinemia (XLA) is rarely reported from developing countries especially from South East Asia. It appears that X linked agammaglobulinemia is less common in certain ethnic groups. It is very uncommon in black people in USA and South Africa. In multiracial Malaysia we have documented five XLA in Malays and Indians but not in the Chinese that constitute about 31% of the population. First degree relatives afflicted with XLA or other primary immunodeficiencies occurred more often in our study. All showed lung involvement although the etiologic organisms involved were atypical, being Gram negative.

Topics: Adolescent; Adult; Agammaglobulinemia; Child; Child, Preschool; Ethnicity; Genetic Linkage; Humans; India; Malaysia; Male; Respiratory Tract Infections; X Chromosome