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Differential Diagnosis for Immunodeficiency with Recurrent UTIs and Uveitis

  • Single most likely diagnosis:
    • Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS): This condition is characterized by recurrent episodes of fever, abdominal pain, and inflammation, which can include uveitis. Immunodeficiency may not be the primary feature, but the syndrome can lead to increased susceptibility to infections such as UTIs due to chronic inflammation and potential secondary immunodeficiency.
  • Other Likely diagnoses:
    • Hyper-IgD Syndrome (HIDS): Similar to TRAPS, HIDS involves recurrent fever episodes and can include symptoms like uveitis. Patients may experience increased infections, including UTIs, due to the inflammatory nature of the disease.
    • Chronic Granulomatous Disease (CGD): Although more commonly associated with catalase-positive bacterial and fungal infections, CGD can lead to granulomatous inflammation in various parts of the body, including the eyes (uveitis) and potentially increase the risk for UTIs due to urinary tract abnormalities or secondary immunodeficiency.
  • Do Not Miss diagnoses:
    • HIV Infection: HIV can cause immunodeficiency leading to recurrent infections, including UTIs, and can also be associated with uveitis. Early diagnosis is crucial for treatment and management.
    • Tuberculosis: While not typically considered a primary immunodeficiency, TB can cause chronic infection and inflammation, potentially leading to uveitis and increasing susceptibility to other infections like UTIs. It's critical to diagnose and treat TB promptly due to its potential severity and transmissibility.
  • Rare diagnoses:
    • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): This rare autoimmune disorder can lead to various manifestations, including recurrent infections and potentially uveitis. It's associated with immunodeficiency and could increase the risk for UTIs.
    • Muckle-Wells Syndrome: A rare autoinflammatory disorder that can cause recurrent fever, uveitis, and potentially increase the risk for infections due to chronic inflammation and secondary immunodeficiency effects.

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Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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