Browsing by Author "Laaraje, Azzeddine"
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Publication Progressive Pulmonary Disease in X-Linked Agammaglobulinemia despite Regular Immunoglobulin Replacement: A Case Report(Perinatal Society of Nepal (PESON), 2024) Laaraje, Azzeddine; Boucaid, Abdelhalim; RadiI, Abdelilah; Abilkassem, RachidAbstract: X-linked agammaglobulinemia (XLA) is characterized by early-onset recurrent bacterial infections, particularly affecting the respiratory tract. We report a 12-year-old male with XLA who presented with chronic cough and recurrent respiratory infections. Genetic testing confirmed a BTK gene mutation. Radiological findings revealed diffuse cylindrical bronchiectasis with bilateral bronchial wall thickening, and pulmonary function tests showed a mixed severe ventilatory pattern. Despite regular immunoglobulin replacement therapy, the patient developed chronic lung disease, highlighting the need for early diagnosis and aggressive management of respiratory manifestations.