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Allogeneic hematopoietic stem cell and liver transplantation in a young girl with dedicator of cytokinesis 8 protein deficiency
Author(s) -
Kuloglu Zarife,
Balcı Deniz,
Haskoloğlu Zehra Şule,
Kendirli Tanıl,
BingölKoloğlu Meltem,
TunaKırsaçlıoğlu Ceyda,
Bal Sevgi,
Selbuz Suna,
Kırımker Onur,
Savaş Berna,
Altuntaş Cansu,
Güner Şükrü Nail,
Can Özlem Selvi,
Karayalçın Kaan,
Doğu Figen,
Kansu Tanca Aydan,
İkincioğulları Aydan
Publication year - 2019
Publication title -
pediatric transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.457
H-Index - 69
eISSN - 1399-3046
pISSN - 1397-3142
DOI - 10.1111/petr.13545
Subject(s) - medicine , progressive familial intrahepatic cholestasis , liver transplantation , jaundice , primary immunodeficiency , hematopoietic stem cell transplantation , liver disease , cholestasis , immunodeficiency , graft versus host disease , immunodeficiency syndrome , gastroenterology , transplantation , immunology , disease , immune system
DOCK8 deficiency is a rare inherited combined immunodeficiency, caused by mutations in the DOCK8 gene. We describe a case with DOCK8 deficiency associated with severe CLD in whom orthotopic LT was performed successfully after allogeneic HSCT. A 5 year‐old girl with DOCK8 deficiency presented with mild direct hyperbilirubinemia and abnormal GGT level and without a previous history of jaundice. She had severe growth retardation, hepatosplenomegaly and generalized eczema. Progressive worsening of CLD was observed within 4 months. Investigations for etiology of liver disease were negative. Liver biopsy showed bridging necrosis, cholestasis and, cirrhosis. Recurrent immune hemolytic crisis and several viral infections developed in follow‐up. She underwent whole cadaveric LT for end‐stage liver disease (ESLD) 1 year after allogenic HSCT from a full matched related donor. The postoperative course was uneventful. The patient is alive with normal liver function and moderate skin graft versus host disease for 36 months after LT. In conclusion DOCK8 deficiency can be associated with severe CLD. Successful LT following HSCT is possible in patients with ESLD in DOCK8 deficiency. The timing of LT is challenging in patients requiring both HSCT and LT since conditioning regimens for HSCT can be highly hepatotoxic and the patients with suboptimal liver function can become decompensated during HSCT.