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

POSIBILITĂŢI ŞI LIMITE DE TRATAMENT ÎN DEFICITUL PRIMAR SELECTIV DE IgA – PREZENTARE DE CAZ

Autor: Monica Alexoae, Mihaela Bataneant, Ileana Ioniuc, Alina Murgu, Alice Azoicăi, Aurica Rugină

Publikováno v: Romanian Journal of Pediatrics, Vol 66, Iss 2, Pp 165-168 (2017)

Deficitul primar de IgA este cea mai frecventă imunodeficienţă congenitală definită de valori ale IgA serice sub 0,07 g/l şi valori normale ale IgG şi IgM. Marea majoritate a cazurilor sunt asimptomatice, doar 10-15% se manifestă prin infecţ

Externí odkaz: https://doaj.org/article/0d1ec49c1edb40868a9e6e6729df87b1

A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency

Autor: Delia Nicoară, Cristina Niță, Ana Stanilă, Alexandru Martiniuc, Laura Popa, Eliana Petrescu, Mihaela Bătăneant, Ruxandra Ciofu, Adriana Guriță, Radu Tabăcaru, Ruxandra Ionescu, Laura Groșeanu

Publikováno v: Immunity, Inflammation and Disease, Vol 11, Iss 8, Pp n/a-n/a (2023)

Abstract Background The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease resulting from loss‐of‐function mutations in ADA2, formerly named CECR1 (cat eye syndrome chromosome region, candidate 1) gene. Dise

Externí odkaz: https://doaj.org/article/c80790c648804cab8f681327b39215cb