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

Abstract

X-linked agammaglobulinemia (XLA) is caused by mutation in the gene coding for Bruton's tyrosine kinase (BTK), which impairs peripheral B cell maturation and hypogammaglobulinemia. In this report, we present a case of XLA in a 22-year-old adult male. Genetic testing revealed a novel mutation located at the conserved region (c.383T>C). The patient had a history of recurrent respiratory tract infection which eventually progressed to chronic type II respiratory failure. Several pathogenic bacteria were isolated on culture of respiratory secretions obtained on bronchoscopy. The patient improved on treatment with antibiotics.

Cytomegalovirus Pneumonia in a Patient with X-Linked Agammaglobulinemia: A Case Report

“…In the present case, despite the elevated levels of serum IgG, other common pathogenic microorganisms were absent compared with two other studies [ 8 , 9 ], and only CMV was detected. Serum IgG trough levels >500 mg/dL are generally accepted as the required minimum threshold for patients with primary immunodeficiency [ 21 ].…”

“…Herein, we described the case of a patient with XLA presenting symptoms of CMV pneumonia, which was confirmed by serology and RT-PCR analysis of BAL fluid and sputum. To date, only two studies have reported CMV as the pneumonia-causing pathogen in patients with XLA ( Table 1 ) [ 8 , 9 ]. In these case studies, the patients were treated with antibiotics and IVIG, demonstrating treatable outcomes with and without ganciclovir therapy.…”

Mucosal IgA Prevents Commensal Candida albicans Dysbiosis in the Oral Cavity

“…Although selective IgA deficiency is a mild form of immunodeficiency, some patients develop a variety of significant clinical problems, such as CMC (70). Furthermore, Candida infections in individuals with Xlinked agammaglobulinemia (XLA), a mutation in the gene encoding for Bruton tyrosine kinase (BTK) which leads to impaired peripheral B cell maturation, have been described (71)(72)(73). Lymphoid cancers patients treated with ibrutinib, a BTK inhibitor, develop invasive fungal infections including candidemia (74).…”

Pulmonary Manifestations of Predominantly Antibody Deficiencies

“…While BTK deficiency can leave the body in a state of immunodeficiency (e.g., XLA), its upregulation may lead to autoimmune states, such as rheumatoid arthritis and systemic lupus erythematosus [19], as well as malignant states, notably B-cell malignancies [23], squamous cell carcinoma, and pancreatic cancer [24]. Hundreds of variants have been identified in the gene BTK from patients with XLA [25][26][27][28][29]18] which may explain phenotypic divergence in XLA [30]. Therefore, data are integrated to investigate genotype-phenotype interactions [31].…”