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Characterizing Pulmonary Gas Exchange in Inborn Errors of Immunity Using Hyperpolarized Xenon MRI

Ernest Hoptioncann, Rachel Eddy, Catherine Biggs, Jonathan Rayment

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.38.

https://doi.org/10.70962/CIS2026abstract.38

Published: 01 May 2026

View article titled, Characterizing Pulmonary Gas Exchange in Inborn Errors of Immunity Using Hyperpolarized Xenon MRI

Journal Articles

Establishing Newborn Screening for SCID: The BC and Yukon Experience

Abigail Netanya Ngan, Aksheen Chahal, Gurdip Hulait, Audi Setiadi, Scott Cameron, Victoria Cook, Elliot James, Sarah Lohrenz, Erika Sifuentes, Stuart Turvey, Jacob Rozmus, Bojana Rakic, Hilary Vallance, Kyla Hildebrand, Graham Sinclair, Catherine Biggs

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.141.

https://doi.org/10.70962/CIS2026abstract.141

Published: 01 May 2026

View article titled, Establishing Newborn Screening for SCID: The BC and Yukon Experience

Journal Articles

XIAP Deficiency Caused by a Deletion in the Noncoding Exon 1 Identified by Chromosomal Microarray

Sean Duke, Sam Chiang, Kevan Jacobson, Orlee Guttman, Anastasia Drobysheva, Catherine Biggs, Kyla Hildebrand, Sarah Lohrenz, Jacob Rozmus, Erika Sifuentes, Stuart Turvey, Elliot James

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.202.

https://doi.org/10.70962/CIS2026abstract.202

Published: 01 May 2026

View article titled, XIAP Deficiency Caused by a Deletion in the Noncoding Exon 1 Identified by Chromosomal Microarray

Journal Articles

GATA2 Deficiency Presenting with Severe Immune Dysregulation

Aria Bruton Joe, Mariam Goubran, Neda Amiri, Myriam Farah, Anthony Gador, Hyein Kim, Hayley Merkeley, Stephen Parkin, Ryan Stubbins, Sarah Lohrenz, Persia Pourshahnazari, Catherine Biggs

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.146.

https://doi.org/10.70962/CIS2026abstract.146

Published: 01 May 2026

View article titled, GATA2 Deficiency Presenting with Severe Immune Dysregulation

Journal Articles

Canadian Inborn Errors of Immunity National Registry (CIEINR): A High-Quality Standardized Patient Data Platform to Support Patient Advocacy and Immune Deficiency Research

J Hum Immun (2025) 1 (LASID2025): eLASID2025abstract.20.

https://doi.org/10.70962/LASID2025abstract.20

Published: 22 December 2025

View article titled, Canadian Inborn Errors of Immunity National Registry (CIEINR): A High-Quality Standardized Patient Data Platform to Support Patient Advocacy and Immune Deficiency Research

Journal Articles

OTULIN Haploinsufficiency Caused by a Novel Splice Acceptor Variant

Pariya Yousefi, Bhavi Modi, Ryan Tan, Maryam Vaseghi-Shanjani, Simran Samra, Liam Golding, Stuart Turvey, Catherine Biggs

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.167.

https://doi.org/10.70962/CIS2025abstract.167

Published: 25 April 2025

View article titled, OTULIN Haploinsufficiency Caused by a Novel Splice Acceptor Variant

Journal Articles

Novel Physiology and Imaging Approaches for Enhanced Detection of Lung Disease in Common Variable Immunodeficiency

Ernest Hoptioncann, Rachel Eddy, Pariya Yousefi, Persia Pourshahnazari, Catherine Biggs, Jonathan Rayment

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.48.

https://doi.org/10.70962/CIS2025abstract.48

Published: 25 April 2025

View article titled, Novel Physiology and Imaging Approaches for Enhanced Detection of Lung Disease in Common Variable Immunodeficiency

Journal Articles

X-MAID Disease Caused by a Novel Synonymous MSN Variant that Disrupts mRNA Splicing

Simran Samra, Pariya Yousefi, Bhavi Modi, Jessica Halparin, Scott Cameron, Catherine Biggs, Stuart Turvey

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.150.

https://doi.org/10.70962/CIS2025abstract.150

Published: 25 April 2025

View article titled, X-MAID Disease Caused by a Novel Synonymous MSN Variant that Disrupts mRNA Splicing

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Characterizing Pulmonary Gas Exchange in Inborn Errors of Immunity Using Hyperpolarized Xenon MRI

Establishing Newborn Screening for SCID: The BC and Yukon Experience

XIAP Deficiency Caused by a Deletion in the Noncoding Exon 1 Identified by Chromosomal Microarray

GATA2 Deficiency Presenting with Severe Immune Dysregulation

Canadian Inborn Errors of Immunity National Registry (CIEINR): A High-Quality Standardized Patient Data Platform to Support Patient Advocacy and Immune Deficiency Research

OTULIN Haploinsufficiency Caused by a Novel Splice Acceptor Variant

Novel Physiology and Imaging Approaches for Enhanced Detection of Lung Disease in Common Variable Immunodeficiency

X-MAID Disease Caused by a Novel Synonymous MSN Variant that Disrupts mRNA Splicing

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