Successful Stem Cell Transplantation in a Girl with DOCK 2 Deficiency
Year: 2025
Type: article
Study design: Case Report
Abstract: Introduction The dedicator of cytokinesis 2 (DOCK2) protein deficiency is a very rare, combined immunodeficiency characterized by early-onset lymphopenia, recurrent infections, and lymphocyte dysfunction. The only cure is hematopoietic stem cell transplantation. Result Here, we report a case of an 8-month-old girl who was admitted for severe chronic diarrhea related to chronic inflammatory colitis. The immune assessment showed hypogammaglobulinemia and a decrease in T cells. Genetic study confirmed the diagnosis of DOCK2 deficiency. She underwent haploidentical stem cell transplantation at 10 months. Conditioning regimen was based on Busilvex and fludarabine. Cyclosporine and MMF were used for graft-versus-host prophylaxis. The child is currently asymptomatic after two years of transplantation. Conclusion DOCK2 deficiency is a rare cause of very early-onset inflammatory bowel disease. Early diagnosis and appropriate treatment are fundamental to improve post-HCST prognosis.
Source: Journal of Human Immunity
Authors: Ilhem Ben Fraj, Samia Rekaya, Manel Gouja, Aicha Ben Taieb, Amani Merdassi, Fethi Mellouli, Mohamed Bejaoui, Monia Ben Khaled, Monia Ouederni
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4413412657