Hereditary or acquired? Comprehensive genetic testing assists in stratifying angioedema patients

Autor: Marija Rozevska, Adine Kanepa, Signe Purina, Linda Gailite, Inga Nartisa, Henriette Farkas, Dmitrijs Rots, Natalja Kurjane

Publikováno v: Allergy, Asthma & Clinical Immunology, Vol 20, Iss 1, Pp 1-6 (2024)

Abstract Hereditary angioedema (HAE) poses diagnostic challenges due to its episodic, non-specific symptoms and overlapping conditions. This study focuses on the genetic basis of HAE, particularly focusing on unresolved cases and those with normal C1

Externí odkaz: https://doaj.org/article/6ec8b370cd0f4a1d9dbcc22b1ef39911

National survey on clinical and genetic characteristics of patients with hereditary angioedema in Latvia

Autor: Adine Kanepa, Inga Nartisa, Dmitrijs Rots, Linda Gailite, Henriette Farkas, Natalja Kurjane

Publikováno v: Allergy, Asthma & Clinical Immunology, Vol 19, Iss 1, Pp 1-9 (2023)

Abstract Background Hereditary angioedema (HAE) is a rare and life-threatening inborn error of immunity. HAE is mostly caused by pathogenic variations in the serine protease inhibitor gene 1 (SERPING1), leading to deficient or dysfunctional C1-inhibi

Externí odkaz: https://doaj.org/article/b0be679487d74d4e8d27e7fa83759f6e

Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021

Autor: Hassan Abolhassani, Tadej Avcin, Nerin Bahceciler, Dmitry Balashov, Zsuzsanna Bata, Mihaela Bataneant, Mikhail Belevtsev, Ewa Bernatowska, Judit Bidló, Péter Blazsó, Bertrand Boisson, Mikhail Bolkov, Anastasia Bondarenko, Oksana Boyarchuk, Anna Bundschu, Jean-Laurent Casanova, Liudmyla Chernishova, Peter Ciznar, Ildikó Csürke, Melinda Erdős, Henriette Farkas, Daria S. Fomina, Nermeen Galal, Vera Goda, Sukru Nail Guner, Péter Hauser, Natalya I. Ilyina, Teona Iremadze, Sevan Iritsyan, Vlora Ismaili-Jaha, Milos Jesenak, Jadranka Kelecic, Sevgi Keles, Gerhard Kindle, Irina V. Kondratenko, Larysa Kostyuchenko, Elena Kovzel, Gergely Kriván, Georgina Kuli-Lito, Gábor Kumánovics, Natalja Kurjane, Elena A. Latysheva, Tatiana V. Latysheva, István Lázár, Gasper Markelj, Maja Markovic, László Maródi, Vafa Mammadova, Márta Medvecz, Noémi Miltner, Kristina Mironska, Fred Modell, Vicki Modell, Bernadett Mosdósi, Anna A. Mukhina, Marianna Murdjeva, Györgyi Műzes, Umida Nabieva, Gulnara Nasrullayeva, Elissaveta Naumova, Kálmán Nagy, Beáta Onozó, Bubusaira Orozbekova, Malgorzata Pac, Karaman Pagava, Alexander N. Pampura, Srdjan Pasic, Mery Petrosyan, Gordana Petrovic, Lidija Pocek, Andrei P. Prodeus, Ismail Reisli, Krista Ress, Nima Rezaei, Yulia A. Rodina, Alexander G. Rumyantsev, Svetlana Sciuca, Anna Sediva, Margit Serban, Svetlana Sharapova, Anna Shcherbina, Brigita Sitkauskiene, Irina Snimshchikova, Shqipe Spahiu-Konjusha, Miklós Szolnoky, Gabriella Szűcs, Natasa Toplak, Beáta Tóth, Galina Tsyvkina, Irina Tuzankina, Elena Vlasova, Alla Volokha

Publikováno v: Frontiers in Immunology, Vol 13 (2022)

IntroductionThe J Project (JP) physician education and clinical research collaboration program was started in 2004 and includes by now 32 countries mostly in Eastern and Central Europe (ECE). Until the end of 2021, 344 inborn errors of immunity (IEI)

Externí odkaz: https://doaj.org/article/1e2baf3d28f7485d8e4a9157d356a4b0

Long-Term Immunological Memory of SARS-CoV-2 Is Present in Patients with Primary Antibody Deficiencies for up to a Year after Vaccination

Autor: Zane Lucane, Baiba Slisere, Lota Ozola, Dmitrijs Rots, Sindija Papirte, Baiba Vilne, Linda Gailite, Natalja Kurjane

Publikováno v: Vaccines, Vol 11, Iss 2, p 354 (2023)

Some studies have found increased coronavirus disease-19 (COVID-19)-related morbidity and mortality in patients with primary antibody deficiencies. Immunization against COVID-19 may, therefore, be particularly important in these patients. However, th

Externí odkaz: https://doaj.org/article/75ba3dde79204d76874159f202b70f68

Inborn error of immunity as the cause of recurrent pericarditis

Autor: Zane Lucane, Natalja Kurjane, Dace Freidenberga

Publikováno v: BMJ Case Rep

Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by a pyrin dysfunction, leading to uncontrolled interleukin-1 production that triggers the attacks. Here we report a case of a 36-year-old female patient repeatedly admitted to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d27f4b23e19548a50900f7f12bf6a52
https://pubmed.ncbi.nlm.nih.gov/34011672