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Luigi Notarangelo
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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

Clinical and Genetic Characteristics of Global Cohort of 132 Individuals with Janus Kinase-3 Deficiency

Ekaterina Polyakova, Malgorzata Pac, Nel Dąbrowska-Leonik, Samaneh Delavari, Nima Rezaei, Hassan Abolhassani, Tinatin Tkemaladze, Oleg Kvilividze, Olga Pashchenko, Svetlana Vakhlyarskaya, Irina Kondratenko, Inga Sakovich, Irina Guryanova, Mikhail Belevtsev, Dmitry Tsekhanovich, Svetlana Aleshkevich, Vera Goda, Christoph Geier, Alexander Leiss-Piller, Çiğdem Aydoğmuş, Pınar Gökmirza Özdemir, Al Serdar, Rahim Miller, Ayca Kiykim, Safa Baris, Luigi Notarangelo, Andrew Gennery, Jolan Walter, Svetlana Sharapova
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.169.
https://doi.org/10.70962/CIS2025abstract.169
Published: 25 April 2025
View articletitled, Clinical and Genetic Characteristics of Global Cohort of 132 Individuals with Janus Kinase-3 Deficiency
Journal Articles

Every Third Baby with Lymphoma Under 3 Years of Age Has Inborn Error of Immunity

Tatiana Volodashchik, Ekaterina Polyakova, Inga Sakovich, Aleksandra Kupchinskaya, Alexandra Romantsova, Mikhail Belevtsev, Alina Sojka, Irma Yemialyanava, Marina Horbach, Dmitry Kochubinski, Svetlana Charniayskaja, Taisia Mikhaleuskaya, Luigi Notarangelo, Jolan Walter, Olga Aleinikova, Svetlana Sharapova
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.198.
https://doi.org/10.70962/CIS2025abstract.198
Published: 25 April 2025
View articletitled, Every Third Baby with Lymphoma Under 3 Years of Age Has Inborn Error of Immunity
Journal Articles

Clinical Scoring of Immune Deficiency and Dysregulation Correlated with Immune Biomarkers in Mennonite Patients with Hypomorphic RAG1 Variant Clinical Scoring of Immune Deficiency in Hypomorphic RAG

Kellie Larsen, David Potts, Marta Toth, Joseph Dasso, Michelle Altrich, Maurice O'Gorman, Caleb Cornaby, Kevin Andresen, Manish J. Butte, Timothy Thauland, Brant Ward, Laura Poskitt, Karlla Brigatti, Joelle Williamson Clark, James Verbsky, Svetlana Sharapova, Kristian Csomos, Luigi Notarangelo, Kevin Strauss, Jolan Walter, Paola Suhet
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.199.
https://doi.org/10.70962/CIS2025abstract.199
Published: 25 April 2025
View articletitled, Clinical Scoring of Immune Deficiency and Dysregulation Correlated with Immune Biomarkers in Mennonite Patients with Hypomorphic RAG1 Variant Clinical Scoring of Immune Deficiency in Hypomorphic RAG
Journal Articles

Anti-Cytokine Autoantibodies in Inborn Errors of Immunity with Immune Dysregulation

Su-Wan Bianca Chan, Steven Holland, Lindsey Rosen, Alexandra Freeman, Gulbu Uzel, Luigi Notarangelo, Elizabeth Karanja, Chioma Udemgba
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.108.
https://doi.org/10.70962/CIS2025abstract.108
Published: 25 April 2025
View articletitled, Anti-Cytokine Autoantibodies in Inborn Errors of Immunity with Immune Dysregulation
Journal Articles

Treatment of Autosomal Recessive Interleukin-7 Deficiency with NT-I7 (Efineptakin Alfa), Long-Acting Recombinant Human Interleukin-7: An Expanded Access Protocol

Derek MacMath, Peiying Ye, Amay Shah, Jasmine Mensah, Triscia Martin, Megan Anderson, Andres Zea Vera, Alex Oh, Sara Ferrando Martinez, Klaus Warnatz, Luigi Notarangelo, Jean-Laurent Casanova, Jose Luis Franco, Anne Puel, Ken Natsuga, Andrea Lisco
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.117.
https://doi.org/10.70962/CIS2025abstract.117
Published: 25 April 2025
View articletitled, Treatment of Autosomal Recessive Interleukin-7 Deficiency with NT-I7 (Efineptakin Alfa), Long-Acting Recombinant Human Interleukin-7: An Expanded Access Protocol
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
Journal Articles

United States Immunodeficiency Network (USIDNET) Reimagined as a Semiautomated Data Extraction Method for Registry Building

Vaibhavi Vichare, Gonench Kilich, Charlotte Cunningham Rundles, Jennifer Puck, Ramsay Fuleihan, Luigi Notarangelo, Rebecca Marsh, Kathleen Sullivan
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.155.
https://doi.org/10.70962/CIS2025abstract.155
Published: 25 April 2025
View articletitled, United States Immunodeficiency Network (USIDNET) Reimagined as a Semiautomated Data Extraction Method for Registry Building
Journal Articles

Post-Transplant Chronic Granulomatous Disease Patient Follow-Up: A PIDTC Survey

Christin Deal, Anika Jain, Danielle Arnold, Suhag Parikh, Rebecca Marsh, Aleksandra Petrovic, Kanwaldeep Mallhi, Deepak Chellapandian, Eyal Grunebaum, E Liana Falcone, Luis Murguia-Favela, Elizabeth Kang, Harry Malech, Christopher Dvorak, Elie Haddad, Donald Kohn, Linda Griffith, Luigi Notarangelo, Michael A. Pulsipher, Alice Chan, Lauri Burroughs, Mort Cowan, Sung-Yun Pai, Troy Torgerson, Jennifer Puck, Jennifer Heimall, Felicia Morton, Jennifer Leiding
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.2.
https://doi.org/10.70962/CIS2025abstract.2
Published: 25 April 2025
View articletitled, Post-Transplant Chronic Granulomatous Disease Patient Follow-Up: A PIDTC Survey
Journal Articles

Diversity in the United States Immunodeficiency Network (USIDNET) Patient Registry

Michelle Onyekaba, Gonench Kilich, Vaibhavi Vichare, Charlotte Cunningham Rundles, Jennifer Puck, Ramsay Fuleihan, Rebecca Marsh, Luigi Notarangelo, Roshini Abraham, Kathleen Sullivan
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.185.
https://doi.org/10.70962/CIS2025abstract.185
Published: 25 April 2025
View articletitled, Diversity in the United States Immunodeficiency Network (USIDNET) Patient Registry