The Unveiled Face of IEI: Children Cancer Hospital Egypt (CCHE-57357) Experience

NESRINE RADWAN^1,2*Youssef Medany^2,3Hanaa Rashad⁴Ahmed Elhemaly^2,3Mahmoud Hammad³Hany Abdel Rahman^2,3Mona Fakhry²Nora Mahmmoud Marouf²Ahmed Mahdy²Mariam Elsherif²Maram Farouk Salama²Nesreen Ali^2,3Sally Talaat^2,3Seham Gohar²Ahmed Emad²Iman Sidhom^2,3Nahla El-Sharkawy^5,6Alaa Elhaddad^2,3

• ¹Faculty of Medicine, Ain Shams University, Cairo, Egypt
• ²Pediatric department, Children Cancer Hospital, Cairo, Cairo, Egypt
• ³Pediatric department, National Cancer Institute, Cairo University, Cairo, Beni Suef, Egypt
• ⁴Children Cancer Hospital, Cairo, Cairo, Egypt
• ⁵Clinical pathology, National Cancer Institute, Cairo University, Cairo, Beni Suef, Egypt
• ⁶Clinical Pathology department, Children Cancer Hospital, Cairo, Cairo, Egypt

Background: Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders characterized by a defect in the function and/or components of the immune system. Following infection, malignancy is the second common cause of death. Aim: We present our experience in Children Cancer Hospital Egypt (CCHE-57357) in diagnosing IEI patients first presented with malignancy rather than infections. Methods: Data of 19 IEI patients with malignancy referred to immunology clinic was collected. Reasons for referral were stunted growth or presence of bronchiectasis at presentation, persistent eczema, significant chemotoxicity, history of recurrent infection either during or after stoppage of chemotherapy, and relapse of lymphoid malignancy after auto-BMT. Results: Patients were 14/5 male/female. Their median age at diagnosis with malignancy was 7 years (1.5-16 years). 13/19 had lymphoma (Hodgkin/non-Hodgkin) and 6/19 patients had leukemia. 9/19 had history of repeated infections,4/19 had failure to thrive, 5/19 had clubbing, 4/19 had bronchiectasis, 3/19 had significant chemotoxicity, 8/19 had low immunoglobulin, 12/19 had abnormal lymphocyte subsets and 3/19 had a relapse of the original disease. Genetic testing was done to 18/19. The diagnosis based on genetic and/or immunological investigation according to the IUIS classification were: 7/19 (37%) immune-dysregulation, 4/19 (21%) combined immunodeficiency with syndromic features, 3/19 (15.7%), combined immunodeficiency, 3/19 (15.7%) predominately antibody defect, and 2/19 (10.5%) had bone marrow failure defect. Conclusion: Collaborative work between immunologist and oncologist helped in diagnosing patients with IEI first presenting with malignancy.