TY  - JOUR
TI  - Hematopoietic stem cell transplantation complicated with
EBV associated hemophagocytic lymphohistiocytosis in a
patient with DOCK2 deficiency
AB  - 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
AU  - Çavdarlı, Büşranur
AU  - AYTEKİN, Elif Soyak
AU  - TAN, Çağman
AU  - ÇAĞDAŞ, Deniz
AU  - BİLGİÇ, Işıl
AU  - Tezcan, İlhan
DO  - 10.24953/turkjped.2021.06.016
PY  - 2021
JO  - Turkish Journal of Pediatrics
VL  - 63
IS  - 6
SN  - 0041-4301
SP  - 1072
EP  - 1077
DB  - TRDizin
UR  - http://search/yayin/detay/518349
ER  -