X‐linked CD40 ligand deficiency in a 1‐year‐old male Shih Tzu with secondary Pneumocystis pneumonia

Abstract

Abstract An approximately 1‐year‐old male intact Shih Tzu dog was referred to a tertiary facility with a history of progressive tachypnea, increased respiratory effort, and weight loss over a 3‐month period that failed to improve with empirical antimicrobial treatment. Upon completion of a comprehensive respiratory evaluation, the dog was diagnosed with severe Pneumocystis pneumonia and secondary pulmonary hypertension. Clinical signs resolved and disease resolution was confirmed after completion of an 8‐week course of trimethoprim‐sulfonamide, 4‐week tapering dose of prednisone to decrease an inflammatory response secondary to acute die‐off of organisms, a 2‐week course of clopidogrel to prevent clot formation, and a 2‐week course of a phosphodiesterase‐5 inhibitor to treat pulmonary hypertension. Immunodiagnostic testing and genetic sequencing were performed to evaluate for potential immunodeficiency as an underlying cause for the development Pneumocystis pneumonia, and identified an X‐linked CD40 ligand deficiency.

Keywords

• gene mapping
• genetic markers
• immunodeficiency
• infectious diseases
• pneumonia
• thoracic imaging