The clinical spectrum of bruton’s agammaglobulinemia

Abstract

X-linked, or Bruton's, agammaglobulinemia (XLA) was described in 1952 as the congenital inability to form antibodies. Patients were typically infants or young children with recurrent, severe bacterial infections. Other, milder cases of hypogammaglobulinemia were considered "acquired," and often presented later in life. Since the discovery of the defective gene in XLA in 1993, it has been shown that a significant number of male patients with sporadic or acquired hypogammaglobulinemia actually have XLA. We present here a case of atypical XLA and discuss similar cases in the literature. We conclude that any male with hypogammaglobulinemia, regardless of age of presentation, might have XLA. Males with low B-cell numbers are particularly likely to have XLA and should have Bruton's tyrosine kinase levels assessed.

Clinical Characteristics and Molecular Analysis of 21 Chinese Children with Congenital Agammaglobulinemia

“…These children had an early age of onset, and about half of the patients in our report developed symptoms before 1 year old. Increased susceptibility to infection was the main clinical manifestation, upper respiratory tract infection (URTI) and lower respiratory tract infection (LRTI) being the most frequent, which was similar to previous studies [6,12,13,16,17]. Besides URTI and LRTI prior to diagnosis, a relatively high incidence of arthritis, otitis media, diarrhoea and skin infection was also noted.…”

Juvenile onset psoriatic arthritis in a patient with X‐linked agammaglobulinemia (Bruton's disease)

“…The disorder occurs in infancy or early childhood with recurrent bacterial infections (1,2). Arthritis affects about 20% of patients suffering from BA, and may be its first clinical manifestation (3 -6).…”

Molecular modeling of mutant kinase domain of Btk, a Tec family member, for structure prediction

“…Two groups reported two different mutations at same position 565. Stewart et al (2001) reported the conversion of proline into leucine ( Figure 5m) and Jo et al (2003) reported the proline into threonine (Figure 5n). Due to structural rigidity produced by proline, the side chain is more interior; however, the leucine is an aliphatic amino acid with more bonding sites.…”