Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations
X-linked recessive ectodermal dysplasia with immunodeficiency is a rare primary immunodeficiency caused by hypomorphic mutations of the IKBKG gene encoding the nuclear factor κB essential modulator (NEMO) protein. This condition displays enormous allelic, immunological, and clinical heterogeneity, a...
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| Published in | Blood Vol. 130; no. 12; pp. 1456 - 1467 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
21.09.2017
American Society of Hematology |
| Subjects | |
| Online Access | Get full text |
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| Abstract | X-linked recessive ectodermal dysplasia with immunodeficiency is a rare primary immunodeficiency caused by hypomorphic mutations of the IKBKG gene encoding the nuclear factor κB essential modulator (NEMO) protein. This condition displays enormous allelic, immunological, and clinical heterogeneity, and therapeutic decisions are difficult because NEMO operates in both hematopoietic and nonhematopoietic cells. Hematopoietic stem cell transplantation (HSCT) is potentially life-saving, but the small number of case reports available suggests it has been reserved for only the most severe cases. Here, we report the health status before HSCT, transplantation outcome, and clinical follow-up for a series of 29 patients from unrelated kindreds from 11 countries. Between them, these patients carry 23 different hypomorphic IKBKG mutations. HSCT was performed from HLA-identical related donors (n = 7), HLA-matched unrelated donors (n = 12), HLA-mismatched unrelated donors (n = 8), and HLA-haploidentical related donors (n = 2). Engraftment was documented in 24 patients, and graft-versus-host disease in 13 patients. Up to 7 patients died 0.2 to 12 months after HSCT. The global survival rate after HSCT among NEMO-deficient children was 74% at a median follow-up after HSCT of 57 months (range, 4-108 months). Preexisting mycobacterial infection and colitis were associated with poor HSCT outcome. The underlying mutation does not appear to have any influence, as patients with the same mutation had different outcomes. Transplantation did not appear to cure colitis, possibly as a result of cell-intrinsic disorders of the epithelial barrier. Overall, HSCT can cure most clinical features of patients with a variety of IKBKG mutations.
•Global survival rate was 74% at a median follow-up after HSCT of 57 months.•Preexisting mycobacterial infection and colitis were associated with poor HSCT outcome. |
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| AbstractList | X-linked recessive ectodermal dysplasia with immunodeficiency is a rare primary immunodeficiency caused by hypomorphic mutations of the
gene encoding the nuclear factor κB essential modulator (NEMO) protein. This condition displays enormous allelic, immunological, and clinical heterogeneity, and therapeutic decisions are difficult because NEMO operates in both hematopoietic and nonhematopoietic cells. Hematopoietic stem cell transplantation (HSCT) is potentially life-saving, but the small number of case reports available suggests it has been reserved for only the most severe cases. Here, we report the health status before HSCT, transplantation outcome, and clinical follow-up for a series of 29 patients from unrelated kindreds from 11 countries. Between them, these patients carry 23 different hypomorphic
mutations. HSCT was performed from HLA-identical related donors (n = 7), HLA-matched unrelated donors (n = 12), HLA-mismatched unrelated donors (n = 8), and HLA-haploidentical related donors (n = 2). Engraftment was documented in 24 patients, and graft-versus-host disease in 13 patients. Up to 7 patients died 0.2 to 12 months after HSCT. The global survival rate after HSCT among NEMO-deficient children was 74% at a median follow-up after HSCT of 57 months (range, 4-108 months). Preexisting mycobacterial infection and colitis were associated with poor HSCT outcome. The underlying mutation does not appear to have any influence, as patients with the same mutation had different outcomes. Transplantation did not appear to cure colitis, possibly as a result of cell-intrinsic disorders of the epithelial barrier. Overall, HSCT can cure most clinical features of patients with a variety of
mutations. X-linked recessive ectodermal dysplasia with immunodeficiency is a rare primary immunodeficiency caused by hypomorphic mutations of the IKBKG gene encoding the nuclear factor κB essential modulator (NEMO) protein. This condition displays enormous allelic, immunological, and clinical heterogeneity, and therapeutic decisions are difficult because NEMO operates in both hematopoietic and nonhematopoietic cells. Hematopoietic stem cell transplantation (HSCT) is potentially life-saving, but the small number of case reports available suggests it has been reserved for only the most severe cases. Here, we report the health status before HSCT, transplantation outcome, and clinical follow-up for a series of 29 patients from unrelated kindreds from 11 countries. Between them, these patients carry 23 different hypomorphic IKBKG mutations. HSCT was performed from HLA-identical related donors (n = 7), HLA-matched unrelated donors (n = 12), HLA-mismatched unrelated donors (n = 8), and HLA-haploidentical related donors (n = 2). Engraftment was documented in 24 patients, and graft-versus-host disease in 13 patients. Up to 7 patients died 0.2 to 12 months after HSCT. The global survival rate after HSCT among NEMO-deficient children was 74% at a median follow-up after HSCT of 57 months (range, 4-108 months). Preexisting mycobacterial infection and colitis were associated with poor HSCT outcome. The underlying mutation does not appear to have any influence, as patients with the same mutation had different outcomes. Transplantation did not appear to cure colitis, possibly as a result of cell-intrinsic disorders of the epithelial barrier. Overall, HSCT can cure most clinical features of patients with a variety of IKBKG mutations.X-linked recessive ectodermal dysplasia with immunodeficiency is a rare primary immunodeficiency caused by hypomorphic mutations of the IKBKG gene encoding the nuclear factor κB essential modulator (NEMO) protein. This condition displays enormous allelic, immunological, and clinical heterogeneity, and therapeutic decisions are difficult because NEMO operates in both hematopoietic and nonhematopoietic cells. Hematopoietic stem cell transplantation (HSCT) is potentially life-saving, but the small number of case reports available suggests it has been reserved for only the most severe cases. Here, we report the health status before HSCT, transplantation outcome, and clinical follow-up for a series of 29 patients from unrelated kindreds from 11 countries. Between them, these patients carry 23 different hypomorphic IKBKG mutations. HSCT was performed from HLA-identical related donors (n = 7), HLA-matched unrelated donors (n = 12), HLA-mismatched unrelated donors (n = 8), and HLA-haploidentical related donors (n = 2). Engraftment was documented in 24 patients, and graft-versus-host disease in 13 patients. Up to 7 patients died 0.2 to 12 months after HSCT. The global survival rate after HSCT among NEMO-deficient children was 74% at a median follow-up after HSCT of 57 months (range, 4-108 months). Preexisting mycobacterial infection and colitis were associated with poor HSCT outcome. The underlying mutation does not appear to have any influence, as patients with the same mutation had different outcomes. Transplantation did not appear to cure colitis, possibly as a result of cell-intrinsic disorders of the epithelial barrier. Overall, HSCT can cure most clinical features of patients with a variety of IKBKG mutations. X-linked recessive ectodermal dysplasia with immunodeficiency is a rare primary immunodeficiency caused by hypomorphic mutations of the IKBKG gene encoding the nuclear factor κB essential modulator (NEMO) protein. This condition displays enormous allelic, immunological, and clinical heterogeneity, and therapeutic decisions are difficult because NEMO operates in both hematopoietic and nonhematopoietic cells. Hematopoietic stem cell transplantation (HSCT) is potentially life-saving, but the small number of case reports available suggests it has been reserved for only the most severe cases. Here, we report the health status before HSCT, transplantation outcome, and clinical follow-up for a series of 29 patients from unrelated kindreds from 11 countries. Between them, these patients carry 23 different hypomorphic IKBKG mutations. HSCT was performed from HLA-identical related donors (n = 7), HLA-matched unrelated donors (n = 12), HLA-mismatched unrelated donors (n = 8), and HLA-haploidentical related donors (n = 2). Engraftment was documented in 24 patients, and graft-versus-host disease in 13 patients. Up to 7 patients died 0.2 to 12 months after HSCT. The global survival rate after HSCT among NEMO-deficient children was 74% at a median follow-up after HSCT of 57 months (range, 4-108 months). Preexisting mycobacterial infection and colitis were associated with poor HSCT outcome. The underlying mutation does not appear to have any influence, as patients with the same mutation had different outcomes. Transplantation did not appear to cure colitis, possibly as a result of cell-intrinsic disorders of the epithelial barrier. Overall, HSCT can cure most clinical features of patients with a variety of IKBKG mutations. •Global survival rate was 74% at a median follow-up after HSCT of 57 months.•Preexisting mycobacterial infection and colitis were associated with poor HSCT outcome. Publisher's Note: There is an Inside Blood Commentary on this article in this issue. Global survival rate was 74% at a median follow-up after HSCT of 57 months. Preexisting mycobacterial infection and colitis were associated with poor HSCT outcome. X-linked recessive ectodermal dysplasia with immunodeficiency is a rare primary immunodeficiency caused by hypomorphic mutations of the IKBKG gene encoding the nuclear factor κB essential modulator (NEMO) protein. This condition displays enormous allelic, immunological, and clinical heterogeneity, and therapeutic decisions are difficult because NEMO operates in both hematopoietic and nonhematopoietic cells. Hematopoietic stem cell transplantation (HSCT) is potentially life-saving, but the small number of case reports available suggests it has been reserved for only the most severe cases. Here, we report the health status before HSCT, transplantation outcome, and clinical follow-up for a series of 29 patients from unrelated kindreds from 11 countries. Between them, these patients carry 23 different hypomorphic IKBKG mutations. HSCT was performed from HLA-identical related donors (n = 7), HLA-matched unrelated donors (n = 12), HLA-mismatched unrelated donors (n = 8), and HLA-haploidentical related donors (n = 2). Engraftment was documented in 24 patients, and graft-versus-host disease in 13 patients. Up to 7 patients died 0.2 to 12 months after HSCT. The global survival rate after HSCT among NEMO-deficient children was 74% at a median follow-up after HSCT of 57 months (range, 4-108 months). Preexisting mycobacterial infection and colitis were associated with poor HSCT outcome. The underlying mutation does not appear to have any influence, as patients with the same mutation had different outcomes. Transplantation did not appear to cure colitis, possibly as a result of cell-intrinsic disorders of the epithelial barrier. Overall, HSCT can cure most clinical features of patients with a variety of IKBKG mutations. Global survival rate was 74% at a median follow-up after HSCT of 57 months. Preexisting mycobacterial infection and colitis were associated with poor HSCT outcome. |
| Author | Miot, Charline Veys, Paul Colin, Estelle Gelfand, Erwin W. Imai, Chihaya Jones, Andrea Ehl, Stephan Rosain, Jeremie Moshous, Despina Olaya-Vargas, Alberto Kucuk, Zeynep Yesim Neven, Benedicte Holland, Steven M. Costa-Carvalho, Beatriz Krol, Alfons Abinun, Mario Vraetz, Thomas Okano, Tsubasa Ito, Etsuro Kawai, Tokomki Bustamante, Jacinta Condino-Neto, Antonio Espinosa Padilla, Sara Patel, Smita Y. Uzel, Gulbu Orange, Jordan S. Puel, Anne Nishikomori, Ryuta Chandrakasan, Shanmuganathan Dupuis Girod, Sophie Jolles, Stephen Güngör, Tayfun Gennery, Andrew R. Cole, Nyree Casanova, Jean-Laurent Pachlopnik Schmid, Jana Yamazaki-Nakashimada, Marco Pellier, Isabelle Mancini, Anthony J. Picard, Capucine Imai, Kohsuke Döffinger, Rainer Sasaki, Shinya Qasim, Waseem Blanche, Stéphane Bleesing, Jack |
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Lurie Children's Hospital of Chicago, Chicago, IL – sequence: 5 givenname: Zeynep Yesim surname: Kucuk fullname: Kucuk, Zeynep Yesim organization: Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH – sequence: 6 givenname: Tokomki surname: Kawai fullname: Kawai, Tokomki organization: Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan – sequence: 7 givenname: Ryuta surname: Nishikomori fullname: Nishikomori, Ryuta organization: Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan – sequence: 8 givenname: Etsuro surname: Ito fullname: Ito, Etsuro organization: Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan – sequence: 9 givenname: Isabelle surname: Pellier fullname: Pellier, Isabelle organization: Pediatric Onco-Hemato-Immunology Unit, University Hospital, Angers, France – sequence: 10 givenname: Sophie surname: 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givenname: Sara surname: Espinosa Padilla fullname: Espinosa Padilla, Sara organization: Clinical Immunology Department and Program of Hematopoietic Stem Cell Transplantation, National Institute of Pediatrics, Mexico City, Mexico – sequence: 21 givenname: Andrea surname: Jones fullname: Jones, Andrea organization: Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO – sequence: 22 givenname: Alfons surname: Krol fullname: Krol, Alfons organization: Department of Pediatric Dermatology, Oregon Health & Science University, Portland, OR – sequence: 23 givenname: Nyree surname: Cole fullname: Cole, Nyree organization: Paediatric Haematology, Starship Blood and Cancer Centre, Starship Hospital, Auckland, New Zealand – sequence: 24 givenname: Stephen surname: Jolles fullname: Jolles, Stephen organization: Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United Kingdom – sequence: 25 givenname: Jack surname: 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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/28679735$$D View this record in MEDLINE/PubMed |
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| Language | English |
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| Publisher | Elsevier Inc American Society of Hematology |
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| Snippet | X-linked recessive ectodermal dysplasia with immunodeficiency is a rare primary immunodeficiency caused by hypomorphic mutations of the IKBKG gene encoding the... Global survival rate was 74% at a median follow-up after HSCT of 57 months. Preexisting mycobacterial infection and colitis were associated with poor HSCT... X-linked recessive ectodermal dysplasia with immunodeficiency is a rare primary immunodeficiency caused by hypomorphic mutations of the gene encoding the... Publisher's Note: There is an Inside Blood Commentary on this article in this issue. Global survival rate was 74% at a median follow-up after HSCT of 57... |
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| SubjectTerms | Child, Preschool Cohort Studies Hematopoietic Stem Cell Transplantation - adverse effects Heterozygote Humans I-kappa B Kinase - genetics Infant Infant, Newborn Inflammation - pathology Inflammatory Bowel Diseases - etiology Mutation - genetics NF-kappa B - metabolism Phenotype Signal Transduction - genetics Survival Analysis Tissue Donors Transplantation Transplantation Conditioning Treatment Outcome |
| Title | Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations |
| URI | https://dx.doi.org/10.1182/blood-2017-03-771600 https://www.ncbi.nlm.nih.gov/pubmed/28679735 https://www.proquest.com/docview/1916709873 https://pubmed.ncbi.nlm.nih.gov/PMC5609334 |
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