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Differential Diagnosis for Recurrent Sino-Pulmonary Infections and Diarrhea

Single Most Likely Diagnosis

  • Selective IgA Deficiency: This condition is characterized by a deficiency in IgA antibodies, which are crucial for mucosal immunity. Despite normal serum IgG concentrations, patients with selective IgA deficiency can experience recurrent sino-pulmonary infections and gastrointestinal symptoms like diarrhea due to the lack of IgA-mediated protection at mucosal surfaces.

Other Likely Diagnoses

  • Common Variable Immunodeficiency (CVID): Although the question states that serum IgG concentrations are within the reference range, some patients with CVID may have normal IgG levels but impaired antibody responses to infections. Recurrent infections and gastrointestinal symptoms can be part of the clinical presentation.
  • IgG Subclass Deficiency: Some individuals have deficiencies in specific subclasses of IgG (e.g., IgG2, IgG3) but normal total IgG levels. These deficiencies can lead to increased susceptibility to infections, particularly those affecting the respiratory tract.

Do Not Miss Diagnoses

  • Chronic Granulomatous Disease (CGD): This condition is characterized by the inability of phagocytic cells to kill certain bacteria and fungi due to a defect in the NADPH oxidase system. Although it more commonly presents with infections and granulomatous disease, gastrointestinal symptoms can occur. Missing this diagnosis could be deadly due to the risk of severe, life-threatening infections.
  • Severe Combined Immunodeficiency (SCID): While SCID typically presents in infancy with severe infections, some forms may have a later onset. The presence of recurrent severe infections and diarrhea warrants consideration of SCID, especially if there are other signs of immune dysfunction.

Rare Diagnoses

  • Hyper-IgE Syndrome (Job Syndrome): Characterized by elevated IgE levels, eczema, and recurrent cutaneous and pulmonary infections. Gastrointestinal symptoms can occur but are less common.
  • Wiskott-Aldrich Syndrome: An X-linked recessive disorder featuring eczema, thrombocytopenia, and recurrent infections. It's rare and typically presents in males.
  • DiGeorge Syndrome (22q11.2 Deletion Syndrome): This condition involves thymic hypoplasia leading to T-cell deficiency, and it can present with recurrent infections, among other features like congenital heart defects and characteristic facial abnormalities.

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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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