The Turkish Journal of Pediatrics 2021 , Vol 63 , Num 6
Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiency
Elif Soyak Aytekin 1 ,Deniz Çağdaş 1 ,Çağman Tan 1 ,Büşranur Çavdarlı 2 ,Işıl Bilgiç 3 ,İlhan Tezcan 1
1 Division of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara
2 Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey
3 Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara
DOI : 10.24953/turkjped.2021.06.016 Background. Dedicator of cytokinesis 2 (DOCK2) deficiency is a rare autosomal recessive combined immunodeficiency presenting with very early onset, severe bacterial and viral infections. In DOCK2 deficiency; T, B and NK cell numbers are decreased and functions are impaired resulting in severe atrophy of secondary lymphoid tissues. The aim of this report is to provide information on clinical and laboratory features and hematopoietic stem cell transplantation (HSCT) outcomes of a DOCK2 deficient patient. The patient was diagnosed by using a targeted next generation sequencing primary immunodeficiency (PID) panel. Lymphocyte subsets were measured by flow-cytometry.

Case. Here, we describe a patient with DOCK2 deficiency presented with severe combined immunodeficiency. He underwent HSCT without conditioning regimen before the genetic diagnosis and developed hemophagocytic lymphohistiocytosis(HLH) due to Epstein-Barr virus (EBV) infection.

Conclusions. Genetic testing is necessery for early diagnosis of DOCK2 deficiency. The curative treatment should be HSCT soon after diagnosis. Keywords : DOCK2 deficiency, hemophagocytic lymphohistiocytosis, hematopoietic stem cell transplantation, severe combined immune deficiency, EBV associated hemaphagocytic lymphohistiocytosis

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