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Nermina Saucier
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Journal Articles

Mosaic STAT5B gain-of-function associated with demyelinating disease and autoimmunity

Erica G. Schmitt, Nermina Saucier, Samuel I. Risma, Sena N. Arbag, Ana Kolicheski, Alexander J. Paul, Tomi L. Toler, Katarina Semkiu, Soe S. Mar, Joshua D. Milner, Jeffrey J. Bednarski, Megan A. Cooper
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250060.
https://doi.org/10.70962/jhi.20250060
Published: 08 July 2025
View article titled, Mosaic STAT5B gain-of-function associated with demyelinating disease and autoimmunity
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Journal Articles

Enhancer Hijacking of the IGH Locus as a Novel Genetic Mechanism of an Inborn Error of Immunity Leading to Invasive Streptococcus pneumoniae Infection due to Antibody Deficiency

Joshua Tobin, Matthew Du, Changxu Fan, Tony Yao, Birk Evavold, Alexander Paul, Ana Kolicheski, Yongjun Wang, Nermina Saucier, Jennifer Poursine-Laurent, Kristen McDaniels, Rachel Bielecki, Tomoki Kawai, Peggy Kendall, Caroline Horner, Naresha Saligrama, David LaFon, John Kuster, Luigi Notarangelo, Richard James, Stuart Tangye, Ting Wang, Jeffrey Bednarski, Neil Romberg, Ali Ellebedy, Megan Cooper
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.119.
https://doi.org/10.70962/CIS2025abstract.119
Published: 25 April 2025
View article titled, Enhancer Hijacking of the IGH Locus as a Novel Genetic Mechanism of an Inborn Error of Immunity Leading to Invasive Streptococcus pneumoniae Infection due to Antibody Deficiency
Journal Articles

Deep Sequencing Reveals Somatic Mosaicism in Genes Relevant to Genetic Errors of Immunity in a Cohort of Patients with Immune Dysregulation

Elizabeth Schmitz, Alexander Paul, Rajarshi Ghosh, Nermina Saucier, Ana Kolicheski, Sammy Risma, Tiphanie Vogel, Eric Allenspach, David Hoytema van Konijnenburg, Craig Platt, Megan Elkins, Jolan Walter, Katie Lewis, Adriana de Jesus, Raphaela Goldbach-Mansky, Jessica Durkee-Shock, Jeffrey Cohen, Irini Sereti, Andrea Lisco, Ottavia Delmonte, Luigi Notarangelo, V. Rao, Morgan Similuk, Steven Holland, Malachi Griffith, Obi Griffith, Magdalena Walkiewicz, Megan Cooper
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.120.
https://doi.org/10.70962/CIS2025abstract.120
Published: 25 April 2025
View article titled, Deep Sequencing Reveals Somatic Mosaicism in Genes Relevant to Genetic Errors of Immunity in a Cohort of Patients with Immune Dysregulation
Journal Articles

Dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells

In Special Collection:
Genes and Immunity
Bradly M. Bauman, Jeffrey R. Stinson, Melissa A. Kallarakal, Lei Haley Huang, Andrew M. Frank, Gauthaman Sukumar, Nermina Saucier, Clifton L. Dalgard, Alice Y. Chan, Joshua D. Milner, Megan A. Cooper, Andrew L. Snow
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (6): e20240272.
https://doi.org/10.1084/jem.20240272
Published: 20 March 2025
View article titled, Dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells
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Includes: Supplementary data
Journal Articles

A human STAT3 gain-of-function variant drives local Th17 dysregulation and skin inflammation in mice

In Special Collection:
Autoimmunity 2024 , Genes and Immunity
Kelsey A. Toth, Erica G. Schmitt, Ana Kolicheski, Zev J. Greenberg, Elizabeth Levendosky, Nermina Saucier, Kelsey Trammel, Vasileios Oikonomou, Michail S. Lionakis, Eynav Klechevsky, Brian S. Kim, Laura G. Schuettpelz, Naresha Saligrama, Megan A. Cooper
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (8): e20232091.
https://doi.org/10.1084/jem.20232091
Published: 11 June 2024
View article titled, A human STAT3 gain-of-function variant drives local Th17 dysregulation and skin inflammation in mice
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