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Pariya Yousefi
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Journal Articles

Monogenic disorders of the IRF transcription factors

Mattison P. Stojcic, Pariya Yousefi, Catherine M. Biggs, Stuart E. Turvey
Journal: Journal of Experimental Medicine
Series: Genes and Immunity Focus
J Exp Med (2025) 223 (1): e20250939.
https://doi.org/10.1084/jem.20250939
Published: 21 November 2025
View article titled, Monogenic disorders of the IRF transcription factors
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Journal Articles

Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency

Tristan J. van der Linden, Rob J.W. Arts, Catherine M. Biggs, Laleh Habibi, Laura Batlle-Masó, Arjan van Laarhoven, Lisette M. Scheepmaker, Pariya Yousefi, Andrea C. Gómez-Raccio, Zahra Alizadeh, Catharina M. Mulders-Manders, Jaap ten Oever, Janneke Schuurs-Hoeijmakers, Nasrin Alipour-Olyei, Anne Molitor, Daniela Di Giovanni, Raphael Carapito, Seiamak Bahram, Gisela Seminario, Liliana Bezrodnik, Mana Momenilandi, Mohammad Shahrooei, Jacinta Bustamante, Ivona Aksentijevich, Daniel L. Kastner, Mohammad Reza Fazlollahi, Roger Colobran, Stuart E. Turvey, Frank L. van de Veerdonk, Jean-Laurent Casanova, Bertrand Boisson, Bart W. Bardoel, András N. Spaan
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250018.
https://doi.org/10.70962/jhi.20250018
Published: 30 September 2025
View article titled, Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency
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Includes: Supplementary data
Journal Articles

ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma

Maggie P. Fu, Mehul Sharma, Pariya Yousefi, Sarah M. Merrill, Ryan Tan, Simran Samra, Audi Setiadi, Liam Golding, Bhavi P. Modi, Kate L. Del Bel, Rebecca J. Deyell, Jacob Rozmus, Wingfield Rehmus, Kyla J. Hildebrand, Elliot James, Géraldine Blanchard-Rohner, Susan Lin, Kevin E. Shopsowitz, Jefferson Terry, Anna F. Lee, Britt I. Drögemöller, Allison Matthews, Maja Tarailo-Graovac, Laura Sauvé, Hana Mitchell, Julie S. Prendiville, Julia L. MacIsaac, Kristy Dever, David T.S. Lin, Mandy Meijer, Colin J.D. Ross, Simon R.M. Dobson, Suzanne M. Vercauteren, Wyeth W. Wasserman, Clara D.M. van Karnebeek, Margaret L. McKinnon, Michael S. Kobor, Stuart E. Turvey, Catherine M. Biggs
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (10): e20240945.
https://doi.org/10.1084/jem.20240945
Published: 31 July 2025
View article titled, ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma
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Includes: Supplementary data
Journal Articles

A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis

Maryam Vaseghi-Shanjani, Mehul Sharma, Pariya Yousefi, Simran Samra, Kaitlin U. Laverty, Arttu Jolma, Rozita Razavi, Ally H.W. Yang, Mihai Albu, Liam Golding, Anna F. Lee, Ryan Tan, Phillip A. Richmond, Marita Bosticardo, Jonathan H. Rayment, Connie L. Yang, Kyla J. Hildebrand, Rae Brager, Michelle K. Demos, Yu-Lung Lau, Luigi D. Notarangelo, Timothy R. Hughes, Catherine M. Biggs, Stuart E. Turvey
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (8): e20241174.
https://doi.org/10.1084/jem.20241174
Published: 20 May 2025
View article titled, A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis
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Includes: Supplementary data
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
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
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
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
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
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
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