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Ivona Aksentijevich
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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

HMGCS1 Deficiency Is a Novel Immunometabolic Autoinflammatory Disease with Progressive Myositis

Ivona Aksentijevich, Dhanya Lakshmi Narayanan, Annemarie Steiner, Shouya Feng, Carl Esperanzate, Iago Pinal-Fernandez, Katja Hrovat, Paul Baker, Gustaf Wigerblad, Mary Maclean, Hongying Wang, Suma Balan, Vaishnavi Badiger, Wenjuan Liu, Sabrina Helmold Hait, William Gahl, Stefania Dell’Orso, Massimo Gadina, Andrew Mammen, Deborah Stone, Daniel Kastner, Mike Rogers, Danica Novacic, Seth Masters
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.94.
https://doi.org/10.70962/CIS2025abstract.94
Published: 25 April 2025
View article titled, HMGCS1 Deficiency Is a Novel Immunometabolic Autoinflammatory Disease with Progressive Myositis
Journal Articles

Haploinsufficiency of A20: Investigating Expanded Phenotypes, Immune Dysregulation, and Liver Injury in a Rare Autoinflammatory Syndrome

Sloane Parker, Hongying Wang, Melissa Mizesko, Filiz Seeborg, Timothy Lotze, Ivan Chinn, James Lupski, Ivona Aksentijevich, Daniel Calame, Tiphanie Vogel
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.136.
https://doi.org/10.70962/CIS2025abstract.136
Published: 25 April 2025
View article titled, Haploinsufficiency of A20: Investigating Expanded Phenotypes, Immune Dysregulation, and Liver Injury in a Rare Autoinflammatory Syndrome
Journal Articles

Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee

M. Cecilia Poli, Ivona Aksentijevich, Ahmed Aziz Bousfiha, Charlotte Cunningham-Rundles, Sophie Hambleton, Christoph Klein, Tomohiro Morio, Capucine Picard, Anne Puel, Nima Rezaei, Mikko R.J. Seppänen, Raz Somech, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Isabelle Meyts, Stuart G. Tangye
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (1): e20250003.
https://doi.org/10.70962/jhi.20250003
Published: 15 April 2025
View article titled, Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee
Open the PDF for Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee in another window
Journal Articles

The 2024 update of IUIS phenotypic classification of human inborn errors of immunity

Ahmed Aziz Bousfiha, Leïla Jeddane, Abderrahmane Moundir, M. Cecilia Poli, Ivona Aksentijevich, Charlotte Cunningham-Rundles, Sophie Hambleton, Christoph Klein, Tomohiro Morio, Capucine Picard, Anne Puel, Nima Rezaei, Mikko R.J. Seppänen, Raz Somech, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Stuart G. Tangye, Isabelle Meyts
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (1): e20250002.
https://doi.org/10.70962/jhi.20250002
Published: 15 April 2025
View article titled, The 2024 update of IUIS phenotypic classification of human inborn errors of immunity
Open the PDF for The 2024 update of IUIS phenotypic classification of human inborn errors of immunity in another window
Includes: Supplementary data