Article
Combined immunodeficiency with marginal zone lymphoma due to a novel homozygous mutation in IL-21R gene and successful treatment with hematopoietic stem cell transplantation.
Pediatric hematology and oncology - 1 Nov 2021
Edeer Karaca Neslihan, Özek Gülcihan, Ataseven Eda, Tökmeci Nazan, Şenol Handan Duman, Kıran Ezgi, Aykut Ayça, Durmaz Asude, Aksu Güzide, Aksoylar Serap, Aydoğdu Sema, Çetingül Nazan, Kütükçüler Necil
Abstract excerpt
Mutations in the interleukin-21 receptor (IL-21R) gene are recently defined as primary immunodeficiency diseases. IL-21R defects result in combined immunodeficiency by affecting the functions of innate and adaptive immune system components.A six-year-old girl was admitted to our hospital with complaints of chronic diarrhea that started after the newborn period and generalized rash over the last three months. She...
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