Diagnosis and management of severe combined immunodeficiency in Australia and New Zealand.
lymphopaenia
newborn screening
severe combined immunodeficiency
Journal
Journal of paediatrics and child health
ISSN: 1440-1754
Titre abrégé: J Paediatr Child Health
Pays: Australia
ID NLM: 9005421
Informations de publication
Date de publication:
10 2020
10 2020
Historique:
received:
05
08
2020
accepted:
06
08
2020
entrez:
25
10
2020
pubmed:
26
10
2020
medline:
15
5
2021
Statut:
ppublish
Résumé
This consensus document outlines the recommendations from the Australasian Society of Clinical Immunology and Allergy Transplantation and Primary Immunodeficiency group for the diagnosis and management of patients with severe combined immunodeficiency. It also provides a proposed framework for the early investigation, management and supportive care prior to haematopoietic stem cell transplantation.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1508-1513Subventions
Organisme : The Newborn Metabolic Screening Programme, National Screening Unit, New Zealand
Pays : International
Organisme : Great Ormond Street Hospital Biomedical Research Centre
Pays : International
Organisme : UK National Institute of Health Research
Pays : International
Informations de copyright
© 2020 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).
Références
Shearer WT, Dunn E, Notarangelo LD et al. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. J. Allergy Clin. Immunol. 2014; 133: 1092-8.
Gaspar HB, Qasim W, Davies EG, Rao K, Amrolia PJ, Veys P. How I treat severe combined immunodeficiency. Blood 2013; 122: 3749-58.
Bonilla FA, Khan DA, Ballas ZK et al. Practice parameter for the diagnosis and management of primary immunodeficiency. J.Allergy Clinic. Immunol. 2015; 136: 1186-205.
van der Burg M, Gennery AR. Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency. Eur. J. Pediatr. 2011; 170: 561-71.
Kwan A, Abraham RS, Currier R et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA 2014; 312: 729-38.
Peckham CS, Johnson C, Ades A, Pearl K, Chin KS. Early acquisition of cytomegalovirus infection. Arch. Dis. Child. 1987; 62: 780-5.
Australian Bureau of Statistics. Births, Australia 2016. Australian Bureau of Statistics; 2017. Available from: https://www.abs.gov.au/AUSSTATS/abs@.nsf/allprimarymainfeatures/D4833137B51F94F6CA25835F000E7FE7?opendocument [accessed on 26 Aug 2020].
Puck JM. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. J. Allergy Clin. Immunol. 2012; 129: 607-16.
Puck JM. Neonatal screening for severe combined immunodeficiency. Curr. Opin. Pediatr. 2011; 23: 667-73.
Dorsey MJ, Dvorak CC, Cowan MJ, Puck JM. Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening. J. Allergy Clin. Immunol. 2017; 139: 733-42.
Gennery AR, Slatter MA, Rice J et al. Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. Clin. Exp. Immunol. 2008; 153: 75-80.
Villa A, Santagata S, Bozzi F et al. Partial V(D)J recombination activity leads to Omenn syndrome. Cell 1998; 93: 885-96.
Chan B, Wara D, Bastian J et al. Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID). Clin. Immunol. 2005; 117: 133-43.
Hassan A, Booth C, Brightwell A et al. Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. Blood 2012; 120: 3615-24; quiz 26.
Pai SY, Logan BR, Griffith LM et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N. Engl. J. Med. 2014; 371: 434-46.
Dvorak CC, Puck JM, Wahlstrom JT, Dorsey M, Melton A, Cowan MJ. Neurologic event-free survival demonstrates a benefit for SCID patients diagnosed by newborn screening. Blood Adv. 2017; 1: 1694-8.
Dvorak CC, Hassan A, Slatter MA et al. Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency. J. Allergy Clinic. Immunol. 2014; 134: 935-43.
Fernandes JF, Rocha V, Labopin M et al. Transplantation in patients with SCID: Mismatched related stem cells or unrelated cord blood? Blood 2012; 119: 2949-55.
Schuetz C, Neven B, Dvorak CC et al. SCID patients with ARTEMIS vs RAG deficiencies following HCT: Increased risk of late toxicity in ARTEMIS-deficient SCID. Blood 2014; 123: 281-9.
Cole BO, Welbury RR, Bond E, Abinun M. Dental manifestations in severe combined immunodeficiency following bone marrow transplantation. Bone Marrow Transplant. 2000; 25: 1007-9.
Slatter MA, Gennery AR, Cheetham TD et al. Thyroid dysfunction after bone marrow transplantation for primary immunodeficiency without the use of total body irradiation in conditioning. Bone Marrow Transplant. 2004; 33: 949-53.
Slatter MA, Rao K, Abd Hamid IJ et al. Treosulfan and fludarabine conditioning for hematopoietic stem cell transplantation in children with primary immunodeficiency: UK experience. Biol. Blood Marrow Transplant. 2018; 24: 529-36.
Slatter MA, Rao K, Amrolia P et al. Treosulfan-based conditioning regimens for hematopoietic stem cell transplantation in children with primary immunodeficiency: United Kingdom experience. Blood 2011; 117: 4367-75.
Cowan MJ, Gennery AR. Radiation-sensitive severe combined immunodeficiency: The arguments for and against conditioning before hematopoietic cell transplantation - What to do? J. Allergy Clin. Immunol. 2015; 136: 1178-85.
Cicalese MP, Ferrua F, Castagnaro L et al. Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency. Blood 2016; 128: 45-54.