1-7 of 7
Svetlana Sharapova
Close
Save search
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients

Gerhard Kindle, Mickaël Alligon, Michael H. Albert, Matthew Buckland, J. David Edgar, Benjamin Gathmann, Sujal Ghosh, Antonios Gkantaras, Alexandra Nieters, Claudio Pignata, Peter N. Robinson, Stephan Rusch, Catharina Schuetz, Svetlana Sharapova, Benjamin Shillitoe, Fabio Candotti, Andrew J. Cant, Jean-Laurent Casanova, Amos Etzioni, Alain Fischer, Isabelle Meyts, Luigi D. Notarangelo, Martine Pergent, C.I. Edvard Smith, ESID Registry Working Party, Lennart Hammarström, Bodo Grimbacher, Mikko R.J. Seppänen, Nizar Mahlaoui, Stephan Ehl, Markus G. Seidel
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250007.
https://doi.org/10.70962/jhi.20250007
Published: 17 July 2025
View article titled, Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients
Open the PDF for Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients in another window
Includes: Supplementary data
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 article titled, 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 article titled, 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 article titled, 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

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

Genetic Basis of NK Cell Deficiency in 16 Patients with Inborn Errors of Immunity: Belarusian Single-Center Experience

Aleksandra Kupchinskaya, Inga Sakovich, Ekaterina Polyakova, Tatiana Volodashchik, Tatsiana Shman, Svetlana Sharapova
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.225.
https://doi.org/10.70962/CIS2025abstract.225
Published: 25 April 2025
View article titled, Genetic Basis of NK Cell Deficiency in 16 Patients with Inborn Errors of Immunity: Belarusian Single-Center Experience