A case report of X-linked agammaglobulinemia complicated with necrotic pneumonia

X-linked agammaglobulinemia (XLA) complicated with necrotic pneumonia caused by Bruton tyrosine kinase (BTK) gene variation was reported. Clinical features and treatment were analyzed. In this case, repeated pulmonary infection and necrotizing pneumonia (NP) accompanied by multiple systemic infections were eventually confirmed to be caused by BTK gene defect. After regular treatment with gamma globulin, the symptoms were relieved. This case report aimed to improve clinicians' understanding of the disease so that diagnosis and treatment can be decided as early as possible, for improving patient's prognosis.

This case report describes an 8-year-old boy diagnosed with agammaglobulinemia complicated by NP. The child had a history of recurrent cough, fever, and chest pain. Despite symptomatic and supportive treatment, his condition relapsed and progressed to NP. A definitive diagnosis was confirmed through genetic testing. Currently, reports of BTK gene mutation-associated agammaglobulinemia with NP in children are rare. Herein, we present the clinical data and genetic test results of this patient to enhance clinicians' understanding of this disease.

This case highlights the clinical significance of early assessment of immunoglobulin levels and lymphocyte immunophenotyping in children with a history of recurrent infections. For those suspected of having an immunodeficiency disorder, prompt genetic testing is strongly recommended to facilitate an accurate diagnosis. Such an approach not only aids in timely clinical decision-making but also helps optimize the patient's quality of life and improve long-term prognosis.