Abstract Introduction Primary immunodeficiencies may present with recurrent infections, autoimmune disease, and chronic pulmonary pathology, often mimicking more common pediatric conditions such as asthma. We describe an 11-year-old boy initially diagnosed with moderate persistent asthma and oligoarticular juvenile idiopathic arthritis (JIA) who was ultimately found to have X-linked agammaglobulinemia following identification of bronchiectasis and hypogammaglobulinemia. Case Description An 11-year-old boy with allergic rhinitis, presumed moderate persistent asthma, and oligoarticular JIA previously treated with methotrexate presented to pediatric pulmonology with a chronic productive cough persisting for over six months. His mother reported three prior hospitalizations for pneumonia, including one in the pediatric intensive care unit. Despite adherence to inhaled corticosteroids and appropriate inhaler technique, he continued to have a daily wet cough without wheezing or exercise limitation, features atypical for asthma. Pulmonary function testing revealed a mixed obstructive and restrictive pattern. Given the chronicity and atypical features of his symptoms, high-resolution computed tomography (CT) of the chest was obtained, demonstrating bibasilar bronchiectasis, scattered micronodules, right upper-lobe ground-glass opacities (Figure 1). Sputum culture subsequently grew Haemophilus influenzae. These findings prompted further evaluation for an underlying cause of bronchiectasis, particularly immunodeficiency. Immunologic testing demonstrated profound pan-agammaglobulinemia (IgG 150 mg/dL, IgA 7 mg/dL, IgM 8 mg/dL), B-cell lymphopenia with normal T-cell and natural killer cell counts, and absent vaccine antibody responses to measles, mumps, and rubella. Rheumatologic evaluation confirmed active arthritis of the right third proximal interphalangeal and temporomandibular joints. Methotrexate, which had been started several years prior but was used intermittently by the patient, was held during treatment of the Haemophilus influenzae infection. Subsequent ophthalmologic evaluation revealed new-onset bilateral anterior uveitis. Genetic testing identified a pathogenic Bruton’s tyrosine kinase mutation, confirming X-linked agammaglobulinemia. The immunology team considered this consistent with the patient’s constellation of autoimmune and pulmonary findings within the context of prior multidisciplinary workup. High-Frequency Chest Wall Oscillation (HFCWO) therapy was started for airway clearance with plan to initiate intravenous immunoglobulin (IVIG) replacement therapy at 1 g/kg every three weeks. Discussion This case underscores the importance of a comprehensive, multidisciplinary approach to chronic cough in children. When asthma coexists with recurrent infections or autoimmune disease, primary immunodeficiency should be considered. Collaboration among pulmonology, rheumatology, and immunology facilitates early diagnosis, targeted treatment, and prevention of irreversible pulmonary damage. This abstract is funded by: None
Varre et al. (Fri,) studied this question.