Pulmonary fungal infections in patients deemed at risk

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ORPHA:217080B48.7
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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.

Inheritance

Multifactorial

Caused by a mix of several genes and environmental factors

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Pulmonary fungal infections in patients deemed at risk.

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No specialists are currently listed for Pulmonary fungal infections in patients deemed at risk.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Pulmonary fungal infections in patients deemed at risk.

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Community

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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.