Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5

Autor: Ihor Savchak, Irina A. Tuzankina, E.A. Latysheva, Halyna Makukh, Anastasiia Bondarenko, Mikhail Belevtsev, Inga S. Sakovich, Elena I. Golovataya, Svetlana A. Kulyova, Larysa Kostyuchenko, Jolan E. Walter, Alexander Popa, Dzmitry S. Varabyou, Natalia V. Rumiantseva, Mei-Sing Ong, Alexander G. Beznoshchenko, Svetlana S. Vakhlyarskaya, Mark Ballow, Ekaterina A. Polyakova, Olga E. Pashchenko, Olga Aleinikova, Yuliya Mareika, Svetlana Aleshkevich, Elena V. Vlasova, Olena Kozlova, Svetlana O. Sharapova, Irina V. Naumchik, Nina V. Minakovskaya, Hayane Akopyan, Timur T. Valiev, Alina Fedorova, Tatjana Prokofjeva, Tatiana V. Latysheva, Irina Kondratenko

Publikováno v: Front. Immunol.
Frontiers in Immunology
Frontiers in Immunology, Vol 11 (2021)

Nijmegen breakage syndrome (NBS) is a DNA repair disorder characterized by combined immunodeficiency and a high predisposition to lymphoid malignancies. The majority of NBS patients are identified with a homozygous five base pair deletion in the Nibr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ea6704d815be19bddc3bbc8a9ce8b98
https://www.frontiersin.org/articles/10.3389/fimmu.2020.602482/pdf

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Autor: Bella Shadur, Andrew R. Gennery, Nurcicek Padem, Anna Mukhina, Polina Stepensky, Svetlana O. Sharapova, Sara Sebnem Kilic, Magdalena Avbelj Stefanija, Luis I. Gonzales-Granado, Isabelle Meyts, Jacques G. Rivière, Filomeen Haerynck, Joachim Zobel, Benoit Florkin, Laura Gamez, Vedat Uygun, Nicolette Moes, Neslihan Edeer Karaca, Lennart Hammarström, Anke M.J. Peters, Bodo Grimbacher, Sevgi Köstel Bal, Aydan Ikinciogullari, Zahra Chavoshzadeh, Joris M. van Montfrans, Sule Haskologlu, Hassan Abolhassani, Necil Kutukculer, Safa Baris, Yuliya Mareika, Juan Luis Santos Perez, Elif Karakoc-Aydiner, Asghar Aghamohammadi, Mehdi Adeli, Antonio Marzollo, Hermann J. Girschick, Sevgi Keles, Amer Khojah, Shahrzad Bakhtiar, Victoria Katharina Tesch, Anna Shcherbina, Antonios G.A. Kolios, Marie Meeths, Mikko Seppänen, Austen Worth, Marina Garcia-Prat, Figen Dogu, Arjan C. Lankester, Markus G. Seidel

Publikováno v: The journal of allergy and clinical immunology
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Journal of Allergy and Clinical Immunology, 145(5), 1452-1463. MOSBY-ELSEVIER

Background: Recent findings strongly support hematopoietic stem cell transplantation (HSCT) in patients with severe presentation of LPS-responsive beige-like anchor protein (LRBA) deficiency, but long-term follow-up and survival data beyond previous

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b609bdc323ed2eb41f327b418827ce5f
https://hdl.handle.net/10067/1695250151162165141

Nijmegen breakage syndrome in two half sibs with peripheral T-cell lymphoma and cortical T-cell acute lymphoid leukemia

Autor: Olga Aleinikova, Svetlana O. Sharapova, Irina E. Guryanova, Elena I. Golovataya, Elena V. Shepelevich, Yuliya Mareika, Maria V. Stegantseva

Publikováno v: Central-European Journal of Immunology
Central European Journal of Immunology, Vol 45, Iss 4, Pp 507-510 (2021)

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder, characterized by spontaneous chromosomal instability with predisposition to immunodeficiency and cancer. We present a repeated NBS in two sons from one woman after two marriages

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::742ce8bfc9bd407d99b18979b23f13ee
https://pubmed.ncbi.nlm.nih.gov/33658897