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Journal Articles

22q11.2 Deletion Syndrome Causes a Sox-9–Mediated Expansion of Chondrocytes Limiting Embryonic Thymus Growth Correctable by Minoxidil

Nicolai van Oers, Pratibha Bhalla, Neha Ahuja, Ashwani Kumar, Chao Xing, Angela Moses, Ashutosh Shukla, Katelyn Boetel, Christian Wysocki, Ondine Cleaver

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.162.

https://doi.org/10.70962/CIS2025abstract.162

Published: 25 April 2025

View article titled, 22q11.2 Deletion Syndrome Causes a Sox-9–Mediated Expansion of Chondrocytes Limiting Embryonic Thymus Growth Correctable by Minoxidil

Journal Articles

Successful Use of Anifrolumab and Baricitinib Combination Therapy in an Infant with Spondyloenchondrodysplasia with Immune Dysregulation (SPENCD-I)

Nicole Soucy, Claudia Moreda, Rami Ballout, Charina Ramirez, Vivekanand Singh, Sindhu Pandurangi, Christian Wysocki

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.191.

https://doi.org/10.70962/CIS2025abstract.191

Published: 25 April 2025

View article titled, Successful Use of Anifrolumab and Baricitinib Combination Therapy in an Infant with Spondyloenchondrodysplasia with Immune Dysregulation (SPENCD-I)

Journal Articles

Calcium Leaking from the Endoplasmic Reticulum Caused by a Human ITPR3 R2524C Variant Causes Immunodeficiency, Ectodermal Dysplasia, and Charcot-Marie-Tooth Syndrome

Nicolai van Oers, Christian Wysocki, Chao Xing, Angela Moses, Katelyn Boetel, Pratibha Bhalla, Ashutosh Shukla, Ilya Bezprozvanny, Anne Satterthwaite

J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.163.

https://doi.org/10.70962/CIS2025abstract.163

Published: 25 April 2025

View article titled, Calcium Leaking from the Endoplasmic Reticulum Caused by a Human ITPR3 R2524C Variant Causes Immunodeficiency, Ectodermal Dysplasia, and Charcot-Marie-Tooth Syndrome