-
Something wrong with this record ?
Impact of newborn screening for SCID on the management of congenital athymia
E. Howley, Z. Golwala, M. Buckland, F. Barzaghi, S. Ghosh, S. Hackett, R. Hague, F. Hauck, U. Holzer, A. Klocperk, M. Koskenvuo, N. Marcus, A. Marzollo, M. Pac, J. Sinclair, C. Speckmann, M. Soomann, L. Speirs, S. Suresh, S. Taque, J. van...
Language English Country United States
Document type Journal Article, Research Support, Non-U.S. Gov't
- MeSH
- Infant MeSH
- Humans MeSH
- Infant, Newborn MeSH
- Neonatal Screening MeSH
- Immunologic Deficiency Syndromes * MeSH
- Severe Combined Immunodeficiency * diagnosis therapy MeSH
- Thymus Gland MeSH
- Check Tag
- Infant MeSH
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
BACKGROUND: Newborn screening (NBS) programs for severe combined immunodeficiency facilitate early diagnosis of severe combined immunodeficiency and promote early treatment with hematopoietic stem cell transplantation, resulting in improved clinical outcomes. Infants with congenital athymia are also identified through NBS because of severe T-cell lymphopenia. With the expanding introduction of NBS programs, referrals of athymic patients for treatment with thymus transplantation have recently increased at Great Ormond Street Hospital (GOSH) (London, United Kingdom). OBJECTIVE: We studied the impact of NBS on timely diagnosis and treatment of athymic infants with thymus transplantation at GOSH. METHODS: We compared age at referral and complications between athymic infants diagnosed after clinical presentation (n = 25) and infants identified through NBS (n = 19) who were referred for thymus transplantation at GOSH between October 2019 and February 2023. We assessed whether age at time of treatment influences thymic output at 6 and 12 months after transplantation. RESULTS: The infants referred after identification through NBS were significantly younger and had fewer complications, in particular fewer infections. All deaths occurred in the group of those who did not undergo NBS, including 6 patients before and 2 after thymus transplantation because of preexisting infections. In the absence of significant comorbidities or diagnostic uncertainties, timely treatment was achieved more frequently after NBS. Treatment when younger than age 4 months was associated with higher thymic output at 6 and 12 months after transplantation. CONCLUSION: NBS contributes to earlier recognition of congenital athymia, promoting referral of athymic patients for thymus transplantation before they acquire infections or other complications and facilitating treatment at a younger age, thus playing an important role in improving their outcomes.
Berlin Brandenburg Center for Regenerative Therapies Berlin Germany
Berlin Institute of Health Charité Universitätsmedizin Berlin Berlin Germany
Department of Immunology and Infectious Diseases Sydney Children's Hospital Sydney Australia
Department of Immunology Children's Memorial Health Institute Warsaw Poland
Department of Paediatrics CHU Rennes Rennes France
Department of Paediatrics Royal Belfast Hospital for Sick Children Belfast United Kingdom
Division of IHOPE Department of Pediatrics University of Alberta Edmonton Canada
Division of Immunology University Children's Hospital Zurich University of Zurich Zurich Switzerland
Kipper Institute for Immunology Schneider Children's Medical Center of Israel Petach Tikva Israel
Labor Berlin Charité Vivantes Department of Immunology Berlin Germany
Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel
School of Clinical Medicine University of New South Wales Sydney Australia
Starship Children's Hospital Auckland New Zealand
University Children's Hospital Eberhard Karls University Tübingen Germany
University Hospitals Birmingham NHS Foundation Trust Birmingham United Kingdom
References provided by Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc24007832
- 003
- CZ-PrNML
- 005
- 20240423160317.0
- 007
- ta
- 008
- 240412s2024 xxu f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1016/j.jaci.2023.08.031 $2 doi
- 035 __
- $a (PubMed)37678573
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxu
- 100 1_
- $a Howley, Evey $u Department of Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom
- 245 10
- $a Impact of newborn screening for SCID on the management of congenital athymia / $c E. Howley, Z. Golwala, M. Buckland, F. Barzaghi, S. Ghosh, S. Hackett, R. Hague, F. Hauck, U. Holzer, A. Klocperk, M. Koskenvuo, N. Marcus, A. Marzollo, M. Pac, J. Sinclair, C. Speckmann, M. Soomann, L. Speirs, S. Suresh, S. Taque, J. van Montfrans, H. von Bernuth, BK. Wainstein, A. Worth, EG. Davies, AY. Kreins
- 520 9_
- $a BACKGROUND: Newborn screening (NBS) programs for severe combined immunodeficiency facilitate early diagnosis of severe combined immunodeficiency and promote early treatment with hematopoietic stem cell transplantation, resulting in improved clinical outcomes. Infants with congenital athymia are also identified through NBS because of severe T-cell lymphopenia. With the expanding introduction of NBS programs, referrals of athymic patients for treatment with thymus transplantation have recently increased at Great Ormond Street Hospital (GOSH) (London, United Kingdom). OBJECTIVE: We studied the impact of NBS on timely diagnosis and treatment of athymic infants with thymus transplantation at GOSH. METHODS: We compared age at referral and complications between athymic infants diagnosed after clinical presentation (n = 25) and infants identified through NBS (n = 19) who were referred for thymus transplantation at GOSH between October 2019 and February 2023. We assessed whether age at time of treatment influences thymic output at 6 and 12 months after transplantation. RESULTS: The infants referred after identification through NBS were significantly younger and had fewer complications, in particular fewer infections. All deaths occurred in the group of those who did not undergo NBS, including 6 patients before and 2 after thymus transplantation because of preexisting infections. In the absence of significant comorbidities or diagnostic uncertainties, timely treatment was achieved more frequently after NBS. Treatment when younger than age 4 months was associated with higher thymic output at 6 and 12 months after transplantation. CONCLUSION: NBS contributes to earlier recognition of congenital athymia, promoting referral of athymic patients for thymus transplantation before they acquire infections or other complications and facilitating treatment at a younger age, thus playing an important role in improving their outcomes.
- 650 _2
- $a kojenec $7 D007223
- 650 _2
- $a novorozenec $7 D007231
- 650 _2
- $a lidé $7 D006801
- 650 12
- $a těžká kombinovaná imunodeficience $x diagnóza $x terapie $7 D016511
- 650 _2
- $a novorozenecký screening $7 D015997
- 650 12
- $a syndromy imunologické nedostatečnosti $7 D007153
- 650 _2
- $a thymus $7 D013950
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a práce podpořená grantem $7 D013485
- 700 1_
- $a Golwala, Zainab $u Department of Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom
- 700 1_
- $a Buckland, Matthew $u Department of Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom
- 700 1_
- $a Barzaghi, Federica $u San Raffaele Telethon Institute for Gene Therapy and Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy
- 700 1_
- $a Ghosh, Sujal $u Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University, Düsseldorf, Germany
- 700 1_
- $a Hackett, Scott $u University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom
- 700 1_
- $a Hague, Rosie $u Department of Paediatric Infectious Diseases and Immunology, Royal Hospital for Children, Glasgow, United Kingdom
- 700 1_
- $a Hauck, Fabian $u Department of Pediatrics, Dr von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany
- 700 1_
- $a Holzer, Ursula $u University Children's Hospital, Eberhard Karls University, Tübingen, Germany
- 700 1_
- $a Klocperk, Adam $u Department of Immunology, Second Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Israel
- 700 1_
- $a Koskenvuo, Minna $u Division of Hematology-Oncology and Stem Cell Transplantation, New Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
- 700 1_
- $a Marcus, Nufar $u Kipper Institute for Immunology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
- 700 1_
- $a Marzollo, Antonio $u Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Padua, Italy
- 700 1_
- $a Pac, Malgorzata $u Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland
- 700 1_
- $a Sinclair, Jan $u Starship Children's Hospital, Auckland, New Zealand
- 700 1_
- $a Speckmann, Carsten $u Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Faculty of Medicine, Faculty of Medicine, Medical Center-University of Freiburg, Germany; Center for Pediatrics and Adolescent Medicine, Department of Pediatric Hematology and Oncology, Faculty of Medicine, Medical Center-University of Freiburg, Germany
- 700 1_
- $a Soomann, Maarja $u Division of Immunology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland
- 700 1_
- $a Speirs, Lynne $u Department of Paediatrics, Royal Belfast Hospital for Sick Children, Belfast, United Kingdom
- 700 1_
- $a Suresh, Sneha $u Division of IHOPE, Department of Pediatrics, University of Alberta, Edmonton, Canada
- 700 1_
- $a Taque, Sophie $u Department of Paediatrics, CHU Rennes, Rennes, France
- 700 1_
- $a van Montfrans, Joris $u Department of Pediatric Immunology and Infectious Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands
- 700 1_
- $a von Bernuth, Horst $u Department of Pediatric Respiratory Medicine, Immunology, and Critical Care Medicine, Charité Universitätsmedizin Berlin, Berlin, Germany; Labor Berlin Charité-Vivantes, Department of Immunology, Berlin, Germany; Berlin Institute of Health, Charité Universitätsmedizin Berlin, Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Berlin, Germany
- 700 1_
- $a Wainstein, Brynn K $u Department of Immunology and Infectious Diseases, Sydney Children's Hospital, Sydney, Australia; School of Clinical Medicine, University of New South Wales, Sydney, Australia
- 700 1_
- $a Worth, Austen $u Department of Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom
- 700 1_
- $a Davies, E Graham $u Department of Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Infection, Immunity and Inflammation Research and Teaching Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom
- 700 1_
- $a Kreins, Alexandra Y $u Department of Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Infection, Immunity and Inflammation Research and Teaching Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom. Electronic address: a.kreins@ucl.ac.uk
- 773 0_
- $w MED00002505 $t Journal of allergy and clinical immunology $x 1097-6825 $g Roč. 153, č. 1 (2024), s. 330-334
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/37678573 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y - $z 0
- 990 __
- $a 20240412 $b ABA008
- 991 __
- $a 20240423160314 $b ABA008
- 999 __
- $a ok $b bmc $g 2081686 $s 1217599
- BAS __
- $a 3
- BAS __
- $a PreBMC-MEDLINE
- BMC __
- $a 2024 $b 153 $c 1 $d 330-334 $e 20230909 $i 1097-6825 $m Journal of allergy and clinical immunology $n J Allergy Clin Immunol $x MED00002505
- LZP __
- $a Pubmed-20240412
