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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

Two Cases of B Cell Lymphopenia Associated with IGLL1 Variants Identified Through Newborn Screening in Ukraine

Oksana Boyarchuk, Yaryna Romanyshyn, Ihor Savchak, Nataliia Yarema, Halyna Makukh, Jolan Walter
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.217.
https://doi.org/10.70962/CIS2025abstract.217
Published: 25 April 2025
View articletitled, Two Cases of B Cell Lymphopenia Associated with IGLL1 Variants Identified Through Newborn Screening in Ukraine
Journal Articles

Clinical and immunological Characteristics of 10 X-linked Chronic Granulomatous Disease Female Carriers

Inga Sakovich, Svetlana Aleshkevich, Svetlana Vakhlyarskaya, Olga Pashchenko, Aleksandra Kupchinskaya, Mikhail Belevtsev, Evgeny Frolov, Tatiana Latysheva, Nikolay Nazarov, Tatiana Nekrasova, Naila Setdikova, Elena Latysheva, Irina Kondratenko, Jolan Walter, Svetlana Sharapova
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.218.
https://doi.org/10.70962/CIS2025abstract.218
Published: 25 April 2025
View articletitled, Clinical and immunological Characteristics of 10 X-linked Chronic Granulomatous Disease Female Carriers
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

A Family with a Novel Dominant Negative FOXN1 Heterozygous Variant of Uncertain Significance: A Case Report and Review of the Literature on the Clinical Course

Serena Shaffren, Phil Mendez, David Potts, Monica Hajirawala, Panida Sriaroon, Constance Bindernagel, Kranthi Nomula, Svetlana Sharapova, John Sleasman, Jolan Walter
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.137.
https://doi.org/10.70962/CIS2025abstract.137
Published: 25 April 2025
View articletitled, A Family with a Novel Dominant Negative FOXN1 Heterozygous Variant of Uncertain Significance: A Case Report and Review of the Literature on the Clinical Course
Journal Articles

Dual Heterozygous LRBA Variants in an Adult with Combined Immunodeficiency: A Diagnostic Challenge

Kranthi Nomula, Ariane Rice, Shannon Sotoudeh, Rahim Miller, David Potts, Daryl Gibson, Jolan Walter
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.174.
https://doi.org/10.70962/CIS2025abstract.174
Published: 25 April 2025
View articletitled, Dual Heterozygous LRBA Variants in an Adult with Combined Immunodeficiency: A Diagnostic Challenge
Journal Articles

Late Diagnosis of Primary Immunodeficiency Following Post-Vaccine Encephalitis: The Importance of Neonatal Screening

Paola Suhet, Mariana Pimentel, Clarissa Bueno, Jolan Walter, Fatima Fernandes, Alessandra Lima
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.159.
https://doi.org/10.70962/CIS2025abstract.159
Published: 25 April 2025
View articletitled, Late Diagnosis of Primary Immunodeficiency Following Post-Vaccine Encephalitis: The Importance of Neonatal Screening
Journal Articles

Delayed Diagnosis in X-Linked Agammaglobulinemia and Its Relationship to the Occurrence of Mutations in the Bruton Tyrosine Kinase Catalytic Domain

Ruth Cajuste, Paola Suhet, Kranthi Nomula, Serena Shaffren, Daryl Gibson, Marta Toth, Panida Sriaroon, Bob Dudas, Attilla Kumanovics, Jolan Walter
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.91.
https://doi.org/10.70962/CIS2025abstract.91
Published: 25 April 2025
View articletitled, Delayed Diagnosis in X-Linked Agammaglobulinemia and Its Relationship to the Occurrence of Mutations in the Bruton Tyrosine Kinase Catalytic Domain