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