A challenging undertaking: Stem cell transplantation for immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome

• Published in: Journal of allergy and clinical immunology Vol. 137; no. 3; pp. 953 - 955.e4
• Main Authors: Kucuk, Zeynep Yesim, MD, Bleesing, Jack J., MD, PhD, Marsh, Rebecca, MD, Zhang, Kejian, MD, Davies, Stella, MBBS, PhD, MRCP, Filipovich, Alexandra H., MD
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.03.2016; Elsevier Limited
• Subjects: Age; Allergy and Immunology; Diabetes; Diabetes Mellitus, Type 1 - congenital; Diabetes Mellitus, Type 1 - genetics; Diabetes Mellitus, Type 1 - immunology; Diabetes Mellitus, Type 1 - therapy; Diarrhea - genetics; Diarrhea - immunology; Diarrhea - therapy; Forkhead Transcription Factors - genetics; Genes, X-Linked; Genetic Diseases, X-Linked - genetics; Genetic Diseases, X-Linked - immunology; Genetic Diseases, X-Linked - therapy; Humans; Immune System Diseases - congenital; Immune System Diseases - genetics; Immune System Diseases - immunology; Immune System Diseases - therapy; Immunoglobulins; Inflammatory bowel disease; Mutation; Neutrophils; Patients; Plastic surgery; Skin & tissue grafts; Stem Cell Transplantation - methods; Stem cells; Transplants & implants; Treatment Outcome; Umbilical cord
• ISSN: 0091-6749; 1097-6825
• DOI: 10.1016/j.jaci.2015.09.030

Appendix Patient ID 1 2 3 4 5 6 7, first SCT 7, second SCT SCT data Date of SCT 2000 2001 2005 2006 2008 2009 2011 2012 Age at SCT 14.2 y 9.28 y 6 mo 29 mo 16 mo 5.41 y 9.7 y 10.97 y Stem cell donor source BM-MSD BM-MUD BM-MUD BM-MUD UCB BM-MUD BM-MUD BM-MUD Match 6/6 6/6 8/8 7/8 5/8 7/8 7/8 7/8 Conditioning CY/ATG/TBI CY/ATG/TBI RIC RIC BU/CY/ATG RIC RIC RIC GVHD prophylaxis CSA, PRD CSA, PRD MTX, PRD, tacrolimus CSA, PRD CSA, PRD CSA, PRD, tacrolimus CSA, PRD PRD, tacrolimus Cell dose CD34 (cell/kg) 2.3 x 10E6 5.1 x 10E6 12.7 x 10E6 8 x 10E6 1.\nR397W) 750-752 del GGA 542 (+1) G>C 817 (-5) C>G 737 T>C(L246P) Exon, intron/domain Exon 9/FKH Exon 7/LZ Exon 11/FKH Exon 7/LZ Intron5/C2H2, FKH, LZ Intron 7/FKH Exon 8/LZ Table E1 Pre-SCT patients' characteristics AIE, Autoimmune enteropathy; AIH, autoimmune hepatitis; AIHA, autoimmune hemolytic anemia; AMA, anti-microsomal antibody; AR, allergic rhinitis; BMT, bone marrow transplantation; CD, Crohn disease; CSA, cyclosporine; DAT, Direct Coombs test; EGID, eosinophilic gastrointestinal disease; EoC, eosinophilic colitis; EoE, eosinophilic esophagitis; FA, food allergy; FH, family history; FKH, forkhead; GI, gastrointestinal; IBD, inflammatory bowel disease; IFX, Infliximab; LKMA, liver kidney microsomal antibody; LZ, leucin-zipper; MGF, maternal grandfather; MTX, methotrexate; NA, not applicable; pANCA, perinuclear anti-neutrophil cytoplasmic antibody; PLT, platelets; PRD, prednisone; RXT, rituximab; SB, small bowel; S/P, status-post; T1D, type 1 diabetes; UC, ulcerative colitis.