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Alberto Pinzon Charry
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Journal Articles

A Theory-Informed Approach to Delivering Genomic Testing for Paediatric Inborn Errors of Immunity

Emily DeBortoli, Tenielle Clinch, Lucy Burbury, Amy Clark, Alberto Pinzon-Charry, Mariana Melo, Anna Sullivan, Jane Peake, Aideen McInerney-Leo, Peter McNaughton, Natalie Taylor, Skye McKay, Tatiane Yanes
Journal: Journal of Human Immunity
Series: ASCIA CGR/IEI Conference Abstracts 2025
J Hum Immun (2025) 1 (ASCIA2025): eASCIA2025abstract.p154.
https://doi.org/10.70962/ASCIA2025abstract.p154
Published: 26 November 2025
View article titled, A Theory-Informed Approach to Delivering Genomic Testing for Paediatric Inborn Errors of Immunity
Journal Articles

Repair or Despair? Balancing Conditioning Risks in Stem Cell Transplant for LIGASE 1-Deficient Severe Combined Immunodeficiency

Tiarni Templeton, Mounavi Vemula, Lisa Woodbine, Marcus Hinchcliffe, Stuart Tangye, Christopher Fraser, Anna Sullivan, Alberto Pinzon-Charry
Journal: Journal of Human Immunity
Series: ASCIA CGR/IEI Conference Abstracts 2025
J Hum Immun (2025) 1 (ASCIA2025): eASCIA2025abstract.cgr18.
https://doi.org/10.70962/ASCIA2025abstract.cgr18
Published: 26 November 2025
View article titled, Repair or Despair? Balancing Conditioning Risks in Stem Cell Transplant for LIGASE 1-Deficient Severe Combined Immunodeficiency
Journal Articles

State of Care of Patients With Autoinflammatory Disorders at the Queensland Children’s Hospital

Alberto Pinzon-Charry, Joachim Tan, Mariana Melo, Sophie Wilcocks, Peter McNaughton, Rebecca James, Jane Peake, Kate Schroder, Ben Whitehead
Journal: Journal of Human Immunity
Series: ASCIA CGR/IEI Conference Abstracts 2025
J Hum Immun (2025) 1 (ASCIA2025): eASCIA2025abstract.p167.
https://doi.org/10.70962/ASCIA2025abstract.p167
Published: 26 November 2025
View article titled, State of Care of Patients With Autoinflammatory Disorders at the Queensland Children’s Hospital
Journal Articles

Clinical Management Recommendations for Patients With IFNAR1 Deficiency Syndrome

Kuang-Chih Hsiao, Cecilia Verryt, Alberto Pinzon Charry, Paul Gray, Jane Peake, Peter McNaughton, Melanie Wong, Theresa Cole, Flora Lutui, George Aho, Andy Wood, Maia Brewerton, See-tarn Woon, Petine White
Journal: Journal of Human Immunity
Series: ASCIA CGR/IEI Conference Abstracts 2025
J Hum Immun (2025) 1 (ASCIA2025): eASCIA2025abstract.p155.
https://doi.org/10.70962/ASCIA2025abstract.p155
Published: 26 November 2025
View article titled, Clinical Management Recommendations for Patients With IFNAR1 Deficiency Syndrome
Journal Articles

A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility

Mounavi Vemula, Bergithe E. Oftedal, Dorsa Iraji, Mélanie Migaud, Christopher Richmond, Syndia Lazarus, Jean-Laurent Casanova, Anna Sullivan, Anne Puel, Stuart G. Tangye, Alberto Pinzon-Charry
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250151.
https://doi.org/10.70962/jhi.20250151
Published: 09 October 2025
View article titled, A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility
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