When Mast Cells Run Amok: A Comprehensive Review and Case Study on Severe Neonatal Diffuse Cutaneous Mastocytosis

por Olteanu, Emilian-Gheorghe, Bataneant, Mihaela, Puiu, Maria, Chirita-Emandi, Adela
Publicado 2023

Case Report: Novel Biallelic Variants in DNAJC21 Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis

por Chirita-Emandi, Adela, Petrescu, Carmen-Angela-Maria, Zimbru, Cristian G., Stoica, Florina, Marian, Catalin, Ciubotaru, Andreea, Bataneant, Mihaela, Puiu, Maria
Publicado 2022

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

por Nicoară, Delia, Niță, Cristina, Stanilă, Ana, Martiniuc, Alexandru, Popa, Laura, Petrescu, Eliana, Bătăneant, Mihaela, Ciofu, Ruxandra, Guriță, Adriana, Tabăcaru, Radu, Ionescu, Ruxandra, Groșeanu, Laura
Publicado 2023

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

por Abolhassani, Hassan, Avcin, Tadej, Bahceciler, Nerin, Balashov, Dmitry, Bata, Zsuzsanna, Bataneant, Mihaela, Belevtsev, Mikhail, Bernatowska, Ewa, Bidló, Judit, Blazsó, Péter, Boisson, Bertrand, Bolkov, Mikhail, Bondarenko, Anastasia, Boyarchuk, Oksana, Bundschu, Anna, Casanova, Jean-Laurent, Chernishova, Liudmyla, Ciznar, Peter, Csürke, Ildikó, Erdős, Melinda, Farkas, Henriette, Fomina, Daria S., Galal, Nermeen, Goda, Vera, Guner, Sukru Nail, Hauser, Péter, Ilyina, Natalya I., Iremadze, Teona, Iritsyan, Sevan, Ismaili-Jaha, Vlora, Jesenak, Milos, Kelecic, Jadranka, Keles, Sevgi, Kindle, Gerhard, Kondratenko, Irina V., Kostyuchenko, Larysa, Kovzel, Elena, Kriván, Gergely, Kuli-Lito, Georgina, Kumánovics, Gábor, Kurjane, Natalja, Latysheva, Elena A., Latysheva, Tatiana V., Lázár, István, Markelj, Gasper, Markovic, Maja, Maródi, László, Mammadova, Vafa, Medvecz, Márta, Miltner, Noémi, Mironska, Kristina, Modell, Fred, Modell, Vicki, Mosdósi, Bernadett, Mukhina, Anna A., Murdjeva, Marianna, Műzes, Györgyi, Nabieva, Umida, Nasrullayeva, Gulnara, Naumova, Elissaveta, Nagy, Kálmán, Onozó, Beáta, Orozbekova, Bubusaira, Pac, Malgorzata, Pagava, Karaman, Pampura, Alexander N., Pasic, Srdjan, Petrosyan, Mery, Petrovic, Gordana, Pocek, Lidija, Prodeus, Andrei P., Reisli, Ismail, Ress, Krista, Rezaei, Nima, Rodina, Yulia A., Rumyantsev, Alexander G., Sciuca, Svetlana, Sediva, Anna, Serban, Margit, Sharapova, Svetlana, Shcherbina, Anna, Sitkauskiene, Brigita, Snimshchikova, Irina, Spahiu-Konjusha, Shqipe, Szolnoky, Miklós, Szűcs, Gabriella, Toplak, Natasa, Tóth, Beáta, Tsyvkina, Galina, Tuzankina, Irina, Vlasova, Elena, Volokha, Alla
Publicado 2022