PMID- 25636378
OWN - NLM
STAT- MEDLINE
DCOM- 20160128
LR  - 20230710
IS  - 1523-6536 (Electronic)
IS  - 1083-8791 (Print)
IS  - 1083-8791 (Linking)
VI  - 21
IP  - 6
DP  - 2015 Jun
TI  - Matched related and unrelated donor hematopoietic stem cell transplantation for 
      DOCK8 deficiency.
PG  - 1037-45
LID - S1083-8791(15)00088-9 [pii]
LID - 10.1016/j.bbmt.2015.01.022 [doi]
AB  - We performed allogeneic hematopoietic stem cell transplantation in 6 patients 
      with mutations in the dedicator-of-cytokinesis-8 (DOCK8) gene using a 
      myeloablative conditioning regimen consisting of busulfan 3.2 mg/kg/day i.v. for 
      4 days and fludarabine 40 mg/m(2)/day for 4 days. Three patients received 
      allografts from matched related donors and 3 patients from matched unrelated 
      donors. Two patients received peripheral blood stem cells and 4 patients bone 
      marrow hematopoietic stem cells. Tacrolimus and short-course methotrexate on days 
      1, 3, 6, and 11 were used for graft-versus-host-disease (GVHD) prophylaxis. All 6 
      patients are alive at a median follow-up of 22.5 months (range, 14 to 35). All 
      patients achieved rapid and high levels of donor engraftment and complete 
      reversal of the clinical and immunologic phenotype. Adverse events consisted of 
      acute skin GVHD in 2 patients and post-transplant pulmonary infiltrates in a 
      patient with extensive bronchiectasis pretransplant. Thus, a uniform 
      myeloablative conditioning regimen followed by allogeneic hematopoietic stem cell 
      transplantation in DOCK8 deficiency results in reconstitution of immunologic 
      function and reversal of the clinical phenotype with a low incidence of 
      regimen-related toxicity.
CI  - Published by Elsevier Inc.
FAU - Cuellar-Rodriguez, Jennifer
AU  - Cuellar-Rodriguez J
AD  - Laboratory of Clinical Infectious Diseases, National Institute of Allergy and 
      Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
FAU - Freeman, Alexandra F
AU  - Freeman AF
AD  - Laboratory of Clinical Infectious Diseases, National Institute of Allergy and 
      Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
FAU - Grossman, Jennifer
AU  - Grossman J
AD  - Division of Hematology and Hematologic Malignancies, Alberta Health Services, 
      Calgary, Alberta, Canada.
FAU - Su, Helen
AU  - Su H
AD  - Laboratory of Host Defense, National Institute of Allergy and Infectious 
      Diseases, National Institutes of Health, Bethesda, Maryland.
FAU - Parta, Mark
AU  - Parta M
AD  - Clinical Research Directorate/Clinical Monitoring Research Program, Leidos 
      Biomedical Research, Inc. (formerly SAIC-Frederick, Inc.), Frederick National 
      Laboratory for Cancer Research, Frederick, Maryland.
FAU - Murdock, Heardley
AU  - Murdock H
AD  - Laboratory of Host Defense, National Institute of Allergy and Infectious 
      Diseases, National Institutes of Health, Bethesda, Maryland.
FAU - Shah, Nirali
AU  - Shah N
AD  - Pediatric Oncology Branch, National Cancer Institute, National Institutes of 
      Health, Bethesda, Maryland.
FAU - Bollard, Catherine
AU  - Bollard C
AD  - Center for Cancer and Immunology Research at the Children's Research Institute, 
      Children's National Medical Center, Washington, DC.
FAU - Kong, Heidi H
AU  - Kong HH
AD  - Dermatology Branch, National Cancer Institute, National Institutes of Health, 
      Bethesda, Maryland.
FAU - Moutsopoulos, Niki
AU  - Moutsopoulos N
AD  - National Institute of Dental and Craniofacial Research, National Institutes of 
      Health, Bethesda, Maryland.
FAU - Stone, Kelly
AU  - Stone K
AD  - Laboratory of Allergic Diseases, National Institute of Allergy and Infectious 
      Diseases, National Institutes of Health, Bethesda, Maryland.
FAU - Gea-Banacloche, Juan
AU  - Gea-Banacloche J
AD  - Experimental Transplantation and Immunology Branch, National Cancer Institute, 
      National Institutes of Health, Bethesda, Maryland.
FAU - Holland, Steven M
AU  - Holland SM
AD  - Laboratory of Clinical Infectious Diseases, National Institute of Allergy and 
      Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
FAU - Hickstein, Dennis D
AU  - Hickstein DD
AD  - Experimental Transplantation and Immunology Branch, National Cancer Institute, 
      National Institutes of Health, Bethesda, Maryland. Electronic address: 
      hicksted@mail.nih.gov.
LA  - eng
GR  - ZIA BC011374-04/ImNIH/Intramural NIH HHS/United States
GR  - HHSN261200800001E/CA/NCI NIH HHS/United States
GR  - HHSN261200800001C/RC/CCR NIH HHS/United States
GR  - HHSN261200800001E/CA/NCI NIH HHS/United States
PT  - Clinical Trial, Phase I
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, N.I.H., Intramural
DEP - 20150127
PL  - United States
TA  - Biol Blood Marrow Transplant
JT  - Biology of blood and marrow transplantation : journal of the American Society for 
      Blood and Marrow Transplantation
JID - 9600628
RN  - 0 (DOCK8 protein, human)
RN  - 0 (Guanine Nucleotide Exchange Factors)
RN  - 0 (Immunosuppressive Agents)
RN  - 0 (Myeloablative Agonists)
RN  - FA2DM6879K (Vidarabine)
RN  - G1LN9045DK (Busulfan)
RN  - P2K93U8740 (fludarabine)
RN  - WM0HAQ4WNM (Tacrolimus)
RN  - YL5FZ2Y5U1 (Methotrexate)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Busulfan/therapeutic use
MH  - Child
MH  - Female
MH  - Graft Survival
MH  - Graft vs Host Disease/genetics/immunology/pathology/*prevention & control
MH  - Guanine Nucleotide Exchange Factors/*deficiency/genetics/immunology
MH  - *Hematopoietic Stem Cell Transplantation
MH  - Histocompatibility Testing
MH  - Humans
MH  - Immunophenotyping
MH  - Immunosuppressive Agents/*therapeutic use
MH  - Male
MH  - Methotrexate/therapeutic use
MH  - Mutation
MH  - Myeloablative Agonists/*therapeutic use
MH  - Pilot Projects
MH  - Severe Combined Immunodeficiency/genetics/immunology/pathology/*therapy
MH  - Siblings
MH  - Tacrolimus/therapeutic use
MH  - Transplantation Conditioning/methods
MH  - Transplantation, Homologous
MH  - Unrelated Donors
MH  - Vidarabine/analogs & derivatives/therapeutic use
PMC - PMC4426076
MID - NIHMS678789
OTO - NOTNLM
OT  - Allogeneic
OT  - DOCK8 deficiency
OT  - Transplantation
COIS- Conflict of Interest: The authors declare no conflict of interest.
EDAT- 2015/02/01 06:00
MHDA- 2016/01/29 06:00
PMCR- 2016/06/01
CRDT- 2015/02/01 06:00
PHST- 2014/11/04 00:00 [received]
PHST- 2015/01/21 00:00 [accepted]
PHST- 2015/02/01 06:00 [entrez]
PHST- 2015/02/01 06:00 [pubmed]
PHST- 2016/01/29 06:00 [medline]
PHST- 2016/06/01 00:00 [pmc-release]
AID - S1083-8791(15)00088-9 [pii]
AID - 10.1016/j.bbmt.2015.01.022 [doi]
PST - ppublish
SO  - Biol Blood Marrow Transplant. 2015 Jun;21(6):1037-45. doi: 
      10.1016/j.bbmt.2015.01.022. Epub 2015 Jan 27.