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Magdalena Walkiewicz
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Journal Articles

Preserved CD8+ T Cells, Severe Viral Infections, Profound Immune Dysregulation, and Variable Expressivity in a Kindred with Novel, Homozygous Pathogenic ZAP70 Splice-Site Variants

Jessica Durkee-Shock, Hye Sun Kuehn, Dimana Dimitrova, David Kleiner, Peiying Ye, Elaine Jaffe, Jennifer Kanakry, Colleen Jodarski, Anahita Agharahimi, Justina Pfister, Krista Gangler, Kayla Morgan, Kelly Liepshutz, Morgan Similuk, Magdalena Walkiewicz, Andrea Lisco, Jeffrey Cohen
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.53.
https://doi.org/10.70962/CIS2025abstract.53
Published: 25 April 2025
View articletitled, Preserved CD8+ T Cells, Severe Viral Infections, Profound Immune Dysregulation, and Variable Expressivity in a Kindred with Novel, Homozygous Pathogenic ZAP70 Splice-Site Variants
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