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Journal Articles

ASCIA Transplantation and Primary Immunodeficiency (TAPID) 2025 Update

Theresa Cole, Peter McNaughton, Jill Smith, Vargha Khosh Aein, Alisa Kane, Jovanka King, Patrick Quinn, on behalf of the TAPID Collaboration and ASCIA Immunodeficiency committee
Journal: Journal of Human Immunity
Series: ASCIA CGR/IEI Conference Abstracts 2025
J Hum Immun (2025) 1 (ASCIA2025): eASCIA2025abstract.p152.
https://doi.org/10.70962/ASCIA2025abstract.p152
Published: 26 November 2025
View article titled, ASCIA Transplantation and Primary Immunodeficiency (TAPID) 2025 Update
Journal Articles

ASCIA Inborn Errors of Immunity Clinical Care Standard

Theresa Cole, Peter McNaughton, Jill Smith, Vargha Khosh Aein, Alisa Kane, Jovanka King, Patrick Quinn, on behalf of the ASCIA Immunodeficiency committee and ASCIA IEI Resources working party
Journal: Journal of Human Immunity
Series: ASCIA CGR/IEI Conference Abstracts 2025
J Hum Immun (2025) 1 (ASCIA2025): eASCIA2025abstract.p151.
https://doi.org/10.70962/ASCIA2025abstract.p151
Published: 26 November 2025
View article titled, ASCIA Inborn Errors of Immunity Clinical Care Standard
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

FOXN1’S Phenotype? FOX-Trotting Around Newborn Screening

Alice Flanagan, Joanne Smart, Sharon Choo, Mark Taranto, John Ainsworth, Bella Shadur, Laine Hosking, Stephanie Richards, Gabriella Graves, David Thai, Kathryn Dawes, Ben Van Dort, Theresa Cole
Journal: Journal of Human Immunity
Series: ASCIA CGR/IEI Conference Abstracts 2025
J Hum Immun (2025) 1 (ASCIA2025): eASCIA2025abstract.cgr13.
https://doi.org/10.70962/ASCIA2025abstract.cgr13
Published: 26 November 2025
View article titled, FOXN1’S Phenotype? FOX-Trotting Around Newborn Screening
Journal Articles

Primary Immunodeficiency and Enteropathy: A Diagnostic and Therapeutic Challenge

Meera Thangarajah, Samar Ojaimi, Paul Gray, Theresa Cole, Alisa Kane, Sanjay Swaminathan, Julian Bosco, Lucinda Berglund
Journal: Journal of Human Immunity
Series: ASCIA CGR/IEI Conference Abstracts 2025
J Hum Immun (2025) 1 (ASCIA2025): eASCIA2025abstract.p177.
https://doi.org/10.70962/ASCIA2025abstract.p177
Published: 26 November 2025
View article titled, Primary Immunodeficiency and Enteropathy: A Diagnostic and Therapeutic Challenge
Journal Articles

Transcriptomic Artificial Intelligence Identifies Novel Lymphocyte Signatures Diagnostic for Primary Immunodeficiencies

Benjamin Cocks, Narges Saeedizadeh, Emma Gail, Vanessa Bryant, Charlotte Slade, Mimi Tang, Theresa Cole, Shady Mohamed, Jo Douglass, Simon Green
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.55.
https://doi.org/10.70962/CIS2025abstract.55
Published: 25 April 2025
View article titled, Transcriptomic Artificial Intelligence Identifies Novel Lymphocyte Signatures Diagnostic for Primary Immunodeficiencies
Journal Articles

Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production

Anthony Lau, Danielle T. Avery, Katherine Jackson, Helen Lenthall, Stefano Volpi, Henry Brigden, Amanda J. Russell, Julia Bier, Joanne H. Reed, Joanne M. Smart, Theresa Cole, Sharon Choo, Paul E. Gray, Lucinda J. Berglund, Peter Hsu, Melanie Wong, Michael O’Sullivan, Kaan Boztug, Isabelle Meyts, Gulbu Uzel, Luigi D. Notarangelo, Robert Brink, Christopher C. Goodnow, Stuart G. Tangye, Elissa K. Deenick
Journal: Journal of Experimental Medicine
J Exp Med (2019) 217 (2): e20191336.
https://doi.org/10.1084/jem.20191336
Published: 16 December 2019
View article titled, Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production
Open the PDF for Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production in another window
Includes: Supplementary data
Journal Articles

Germline-activating mutations in PIK3CD compromise B cell development and function

In Special Collection:
Inborn Errors of Immunity 2019
Danielle T. Avery, Alisa Kane, Tina Nguyen, Anthony Lau, Akira Nguyen, Helen Lenthall, Kathryn Payne, Wei Shi, Henry Brigden, Elise French, Julia Bier, Jana R. Hermes, David Zahra, William A. Sewell, Danyal Butt, Michael Elliott, Kaan Boztug, Isabelle Meyts, Sharon Choo, Peter Hsu, Melanie Wong, Lucinda J. Berglund, Paul Gray, Michael O’Sullivan, Theresa Cole, Steven M. Holland, Cindy S. Ma, Christoph Burkhart, Lynn M. Corcoran, Tri Giang Phan, Robert Brink, Gulbu Uzel, Elissa K. Deenick, Stuart G. Tangye
Journal: Journal of Experimental Medicine
J Exp Med (2018) 215 (8): 2073–2095.
https://doi.org/10.1084/jem.20180010
Published: 17 July 2018
View article titled, Germline-activating mutations in PIK3CD compromise B cell development and function
Open the PDF for Germline-activating mutations in PIK3CD compromise B cell development and function in another window
Includes: Supplementary data