AML-360: The Coexistence of Hyperimmunoglobulin E Syndrome and Myelodysplastic Syndrome

Abstract

Context Hyperimmunoglobulin E syndrome (Job Syndrome) is one of the primary immunodeficiency syndromes and is generally inherited in an autosomal dominant fashion. This syndrome is characterized by elevation of serum immunoglobulin E level, chronic eczema, recurrent sinusitis and pneumonia, tendency for recurrent pyogenic infection, and soft tissue infections such as large abscesses. This disorder is associated with an increased risk for malignancies, especially lymphomas. Here, we report of a 45-year-old male with hyper-IgE syndrome who developed MDS transformed AML. Patient The patient had multiple erythematous papules and nodules with ulcerations on his face, left forearm, and legs. He had pancytopenia. Bone aspiration and biopsy were performed, which confirmed diagnosis of myelodysplastic syndrome with increased blasts. After 3+7 (idarubicin+cytarabine) induction chemotherapy, he had recurrent pneumonia, pre-septal cellulitis, a breast abscess, and catheter infection. We found elevated IgE. He was diagnosed with Hyperimmunoglobulin E syndrome. After receiving two cycles of azacytidine, he still had refractory disease. He was shifted to decitabine and venetoclax. He required intensive care unit hospitalization for gastrointestinal bleeding but passed away. Conclusion As in our case, hyperimmunoglobulin E syndrome should be considered in patients with hematological malignancies and recurrent soft tissue infections.