Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: A cohort study

Bruton’s agammaglobulinemia in an adult male due to a novel mutation: a case report

“…In his previous hospitalizations, Lower respiratory tract secretion specimens were not obtained, and no pathogenic bacteria were isolated on routine sputum culture. BTK mutations lead to impaired humoral immunity, thus rendering the patient susceptible to Streptococci, Neisseria, Enterovirus and other pathogens (14)(15)(16). In XLA patients with long-standing impairment of immunity, the possibility of occult opportunistic infections should be considered despite negative sputum culture.…”

Clinical and immunological analysis of patients with X-linked agammaglobulinemia – single center experience

“…There are some reports on clinical presentation and longterm observation on a large group of patients with XLA [5,6,9]. It is the first clinical report on such a large group of children from one center in Poland.…”

“…Mutations in Btk are highly variable but no clear genotype-phenotype correlation has been found to date. The disorder is maintained in the population by new mutations [2,4,5].…”

“…There are a few reports on long-term observation of agammaglobulinemic patients [5,6,9]. In this paper we present clinical analysis of 33 XLA patients from the biggest pediatric referral center for primary immune deficiencies (PID) in Poland.…”

Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia

“…The BTK mutations have been reported from many different regions (6). Our group has been the only one to publish the diagnosis of XLA by analysis of mutations of the BTK gene in Brazilian patients (7).…”