Disseminated histoplasmosis with Hypergammaglobulinemia in rare subtype of severe combined immunodeficiency: A case report of a 7-year-old child

Abstract

Background: Histoplasmosis is a progressive disease caused by dimorphic intracellular fungi. When infection is present, it is usually in immunocompromised individuals. We report an unusual presentation of progressive disseminated histoplasmosis in patient with raised Ig levels as but low CD4 and CD8 levels, in a rare case of severe combined immunodefiency. Case Report: A 7-year-old female with history of intermittent fever for 8 months, multiple joint pain and weight loss for 2 months. On examination, she had pallor, erythematous plaque on face and hepatosplenomegaly. The patient had high levels of immunoglobulins and reduced CD4, CD8 count. Disseminated histoplasmosis (DH) was diagnosed on microscopic examination of bone marrow and skin biopsy and was confirmed by fungal culture of bone marrow & blood. Discussion: SCID is characterized by abnormalities in T-cell, B-cell, and NK-cell functions. In our case, CD-4, CD-8 count was reduced but B-cell defect was not present, leading to the wrong perception of immune status of patient. Our patient might be suffering from the type of SCID which has T-cell defect without the loss of B-cell function. Conclusion: Our case represents a unique paradox in which the impaired cellular immunity resulted in immune deficient status causing disseminated histoplasmosis in an individual with intact humoral immunity, posing a diagnostic challenge. The following core competencies are addressed in this article: Medical Knowledge, Patient care.