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Journal Articles

HEM-1-Associated Inborn Error of Immunity: A Case Series

Sebastian Chamorro Ordonez, Ashley V. Geerlinks, Stuart Turvey, Sherri Burnett, Patrick Frosk, Marianne Miguel, Tamar Rubin

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.66.

https://doi.org/10.70962/CIS2026abstract.66

Published: 01 May 2026

View article titled, HEM-1-Associated Inborn Error of Immunity: A Case Series

Includes: Supplementary data

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

Biological Understanding of Spondyloenchondrodysplasia (SPENCD) Caused by Damaging ACP5 Variants

Mattison Stojcic, Pariya Yousefi, Makenzie A. Manning, Jessica Halparin, Catherine M. Biggs, Stuart Turvey

J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.32.

https://doi.org/10.70962/CIS2026abstract.32

Published: 01 May 2026

View article titled, Biological Understanding of Spondyloenchondrodysplasia (SPENCD) Caused by Damaging ACP5 Variants

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

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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HEM-1-Associated Inborn Error of Immunity: A Case Series

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

Biological Understanding of Spondyloenchondrodysplasia (SPENCD) Caused by Damaging ACP5 Variants

OTULIN Haploinsufficiency Caused by a Novel Splice Acceptor Variant

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

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