Overview
Pulmonary fungal infections in patients deemed at risk (Orphanet code 217080; ICD-10 B48.7) refers to a group of opportunistic or invasive fungal infections affecting the lungs that occur predominantly in individuals with predisposing risk factors. These risk factors include primary or secondary immunodeficiency states (such as HIV/AIDS, hematologic malignancies, organ transplantation, prolonged corticosteroid use, or neutropenia), as well as genetic susceptibility conditions affecting innate immune pathways. The lungs are the primary organ system affected, though dissemination to other organs can occur in severe cases. Key clinical features include persistent cough, fever unresponsive to antibacterial therapy, dyspnea (shortness of breath), chest pain, hemoptysis (coughing up blood), and progressive pulmonary infiltrates on imaging. The causative organisms may include species of Aspergillus, Mucorales, Fusarium, Scedosporium, and other opportunistic fungi beyond the more commonly recognized pathogens. Diagnosis typically requires a combination of imaging (CT scan showing nodules, halo sign, or cavitary lesions), microbiological culture, histopathology, and serological or molecular biomarkers such as galactomannan or beta-D-glucan assays. Treatment depends on the specific fungal pathogen identified and the patient's underlying immune status. Antifungal agents such as voriconazole, amphotericin B (liposomal formulations preferred), echinocandins (caspofungin, micafungin), posaconazole, and isavuconazole form the mainstay of therapy. Immune reconstitution or reduction of immunosuppressive therapy, when feasible, is a critical adjunctive strategy. Prophylactic antifungal therapy is recommended in high-risk populations, such as patients undergoing hematopoietic stem cell transplantation or those with prolonged neutropenia. Despite advances in antifungal therapy, mortality remains significant, particularly in profoundly immunocompromised patients or when diagnosis is delayed.
Multifactorial
Caused by a mix of several genes and environmental factors
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Pulmonary fungal infections in patients deemed at risk.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
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Common questions about Pulmonary fungal infections in patients deemed at risk
What is Pulmonary fungal infections in patients deemed at risk?
Pulmonary fungal infections in patients deemed at risk (Orphanet code 217080; ICD-10 B48.7) refers to a group of opportunistic or invasive fungal infections affecting the lungs that occur predominantly in individuals with predisposing risk factors. These risk factors include primary or secondary immunodeficiency states (such as HIV/AIDS, hematologic malignancies, organ transplantation, prolonged corticosteroid use, or neutropenia), as well as genetic susceptibility conditions affecting innate immune pathways. The lungs are the primary organ system affected, though dissemination to other organs
How is Pulmonary fungal infections in patients deemed at risk inherited?
Pulmonary fungal infections in patients deemed at risk follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.