Diagnosis and management of severe combined immunodeficiency in Australia and New Zealand

Stephanie Richards; Andrew R Gennery; E Graham Davies; Melanie Wong; Peter J Shaw; Jane Peake; Chris Fraser; Paul Gray; Shannon Brothers; Jan Sinclair; Tim Prestidge; Kahn Preece; Patrick Quinn; Shanti Ramachandran; Richard Loh; Andrew McLean-Tooke; Richard Mitchell; Theresa Cole; Australasian Society of Clinical Immunology and Allergy (ASCIA) Transplantation and Immunodeficiency (TAPID) group

doi:10.1111/jpc.15158

Diagnosis and management of severe combined immunodeficiency in Australia and New Zealand

J Paediatr Child Health. 2020 Oct;56(10):1508-1513. doi: 10.1111/jpc.15158.

Authors

Stephanie Richards¹, Andrew R Gennery^{2

3}, E Graham Davies^{4

5}, Melanie Wong⁶, Peter J Shaw^{7

8}, Jane Peake^{9

10}, Chris Fraser¹¹, Paul Gray^{12

13}, Shannon Brothers^{14

15}, Jan Sinclair¹⁴, Tim Prestidge¹⁶, Kahn Preece¹⁷, Patrick Quinn^{18

19}, Shanti Ramachandran²⁰, Richard Loh²¹, Andrew McLean-Tooke²¹, Richard Mitchell^{13

22}, Theresa Cole¹; Australasian Society of Clinical Immunology and Allergy (ASCIA) Transplantation and Immunodeficiency (TAPID) group

Affiliations

¹ Department of Allergy and Immunology, The Royal Children's Hospital, Melbourne, Victoria, Australia.
² Paediatric Immunology and Haematopoietic Stem Cell Transplantation, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom.
³ Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.
⁴ Department of Immunology, Great Ormond Street Hospital, London, United Kingdom.
⁵ UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
⁶ Department of Allergy and Immunology, Children's Hospital Westmead, Sydney, New South Wales, Australia.
⁷ Bone Marrow Transplant Unit, Children's Hospital Westmead, Sydney, New South Wales, Australia.
⁸ Discipline of Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia.
⁹ Department of Allergy and Immunology, Queensland Children's Hospital, Brisbane, Queensland, Australia.
¹⁰ Discipline of Paediatrics and Child Health, School of Medicine, University of Queensland, Brisbane, Queensland, Australia.
¹¹ Oncology Service, Queensland Children's Hospital, Brisbane, Queensland, Australia.
¹² Department of Immunology, Sydney Children's Hospital, Sydney, New South Wales, Australia.
¹³ School of Women and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.
¹⁴ Department of Immunology and Allergy, Starship Children's Hospital, Auckland, New Zealand.
¹⁵ Newborn Metabolic Screening, Specialist Chemical Pathology Department, LabPlus, Auckland City Hospital, Auckland, New Zealand.
¹⁶ Blood and Cancer Centre, Starship Children's Hospital, Auckland, New Zealand.
¹⁷ Allergy and Immunology Department, John Hunter Children's Hospital, Newcastle, New South Wales, Australia.
¹⁸ Department of Allergy and Clinical Immunology, Women and Children's Hospital, Adelaide, South Australia, Australia.
¹⁹ Discipline of Paediatrics, School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.
²⁰ Department of Paediatric and Adolescent Oncology and Haematology, Perth Children's Hospital, Perth, Western Australia, Australia.
²¹ Immunology Department, Perth Children's Hospital, Perth, Western Australia, Australia.
²² Kids Cancer Centre, Sydney Children's Hospital, Sydney, New South Wales, Australia.

PMID: 33099818
DOI: 10.1111/jpc.15158

Abstract

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.

Keywords: lymphopaenia; newborn screening; severe combined immunodeficiency.

MeSH terms

Australia
Hematopoietic Stem Cell Transplantation*
Humans
Immunologic Deficiency Syndromes* / diagnosis
Immunologic Deficiency Syndromes* / therapy
New Zealand
Severe Combined Immunodeficiency* / diagnosis
Severe Combined Immunodeficiency* / therapy

Abstract

MeSH terms

Grants and funding