Idiopathic Combined Immunodeficiency Associated with Primary Pulmonary Sporotrichosis

Introduction Sporotrichosis is an uncommon but emerging opportunistic infection in immunocompromised patients. Primary pulmonary sporotrichosis can disseminate and result in significant morbidity and mortality, despite treatment. Pulmonary sporotrichosis has largely been associated with immunocompromised patients with human immunodeficiency virus (HIV) and disseminated infection. We present the first reported case of a patient with HIV-negative, idiopathic combined immunodeficiency (ICID) and primary pulmonary sporotrichosis. Case Presentation A 64-year-old male with a past medical history of prostate cancer, status post radiation, recurrent sinusitis, allergic rhinitis, and mild persistent asthma presented to our allergy/immunology clinic concerning recurrent sinopulmonary infections and a 4-month history of worsened chronic cough. An immunodeficiency workup revealed a B cell defect, given no pneumococcal polysaccharide vaccine response; a T cell defect, involving cluster of differentiation 4 T lymphocyte deficiency without HIV infection; no clinically significant genetic variants associated with primary immunodeficiency (PID); and diffuse bronchial wall thickening with bilateral mild central bronchiectasis, multifocal mucous plugging/mucoceles on high-resolution CT chest. Daily trimethoprim-sulfamethoxazole prophylaxis was initiated. Growth of Sporotrichum species on fungal culture prompted initiation of long-term oral itraconazole, which subsequently improved respiratory symptoms. Intravenous immunoglobulin was also initiated for the B cell defect and further infection prevention. Discussion The present literature is limited to case reports and small-scale retrospective cohort studies of patients with HIV and disseminated sporotrichosis, with very few case reports on associated primary immunodeficiency. This case contributed to the limited literature on pulmonary sporotrichosis and success with itraconazole. Optimizing pulmonary hygiene, infection precautions, and immediate initiation of pulmonary sporotrichosis treatment improved respiratory symptoms and quality of life. Conclusion Extracutaneous sporotrichosis primarily targets immunocompromised patients and is associated with significant morbidity and mortality. The present literature is limited to case reports and small-scale retrospective cohort studies of patients with HIV and disseminated sporotrichosis, with very few case reports on associated PIDs. We offer the first reported case of primary pulmonary sporotrichosis in a patient with ICID and have found success with long-term itraconazole therapy to date. A comprehensive approach to patient care guides accurate diagnosis and management of immunodeficiency and associated opportunistic infection.