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Successful Sequential Liver and Hematopoietic Stem Cell Transplantation in a Child With CD40 Ligand Deficiency and Cryptosporidium-Induced Liver Cirrhosis

Quarello, Paola, MD, PhD1; Tandoi, Francesco, MD, PhD2; Carraro, Francesca, MD1; Vassallo, Elena, MD1; Pinon, Michele, MD, PhD3; Romagnoli, Renato, MD2; David, Ezio, MD4; Dell Olio, Dominic, MD, PhD5; Salizzoni, Mauro, MD2; Fagioli, Franca, MD1; Calvo, Pier, Luigi, MD3

doi: 10.1097/TP.0000000000002114
Original Clinical Science—Liver
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Background Hematopoietic stem cell transplantation (HSCT) is curative in patients with primary immunodeficiencies. However, pre-HSCT conditioning entails unacceptably high risks if the liver is compromised. The presence of a recurrent opportunistic infection affecting the biliary tree and determining liver cirrhosis with portal hypertension posed particular decisional difficulties in a 7-year-old child with X-linked CD40-ligand deficiency. We aim at adding to the scanty experience available on such rare cases, as successful management with sequential liver transplantation (LT) and HSCT has been reported in detail only in 1 young adult to date.

Methods A closely sequential strategy, with a surgical complication-free LT, followed by reduced-intensity conditioning, allowed HSCT to be performed only one month after LT, preventing Cryptosporidium parvum recolonization of the liver graft.

Results Combined sequential LT and HSCT resolved the cirrhotic evolution and corrected the immunodeficiency so that the infection responsible for the progressive sclerosing cholangitis did not recur.

Conclusions Hopefully, this report of the successful resolution of a potentially fatal combination of immunodeficiency and chronic opportunistic infection with end-stage organ damage in a child will encourage others to adapt a sequential transplant approach to this highly complex pathology. However, caution is to be exercised to carefully balance the risks intrinsic to transplant surgery and immunosuppression in primary immunodeficiencies.

Report of the successful resolution of a potentially fatal combination of immunodeficiency (X-linked CD40-ligand) and chronic opportunistic infection with end-stage liver damage in a child using a closely sequential liver transplantation and hematopoietic stem cell transplantation strategy.

1 Pediatric Onco-Haematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.

2 Liver Transplantation Centre, General Surgery 2 U, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.

3 Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.

4 Department of Pathology, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.

5 Regional Transplant Centre, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.

Received 11 July 2017. Revision received 11 December 2017.

Accepted 15 December 2017.

The authors declare no funding or conflicts of interest.

Q.P., D.O.D., and C.P.L. had the patient under their care and conceived, designed and wrote the article. T.F., R.R., S.M. planned and performed liver transplant and critically reviewed the article. D.E. performed liver histological analysis. C.F., V.E., F.F. performed hematopoietic stem cell transplantation and critically reviewed the article. P.M. followed the patient after liver transplant and critically reviewed the article. All authors listed contributed to writing the manuscript and are responsible for the content of the article.

Correspondence: Pier Luigi Calvo, MD, Paediatrician, Gastroenterologist and Hepatologist, Regina Margherita Children’s Hospital AOU Città della Salute e della Scienza Piazza Polonia, 94 10126 Turin, Italy. (pcalvo@cittadellasalute.to.it).

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