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A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome

학술저널

issue: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 44(3)
Author: Mina, Erika Della^{Aff1, Aff2}
Jackson, Katherine J. L.
Crawford, Alexander J. I.
Faulks, Megan L.
Pathmanandavel, Karrnan^{Aff1, Aff2}
Acquarola, Nicolino
O’Sullivan, Michael^{Aff3, Aff4}
Kerre, Tessa^{Aff5, Aff6}
Naesens, Leslie^{Aff6, Aff7}
Claes, Karlien^{Aff6, Aff7}
Goodnow, Christopher C.^{Aff1, Aff2}
Haerynck, Filomeen^{Aff6, Aff7}
Kracker, Sven^{Aff8, Aff9}
Meyts, Isabelle^{Aff10, Aff11}
D’Orsogna, Lloyd J.^{Aff3, Aff12}
Ma, Cindy S.^{Aff1, Aff2}
Tangye, Stuart G.^{Aff1, Aff2, IDs10875024016651_cor17}
DB Label: Database : Springer Nature Journals

원문보기: 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - RISS

A Case Report of Folliculin-Interacting Protein 1 Deficiency

학술저널

issue: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 43(8):1751-1753
Author: Moreno-Corona, Nidia^{Aff1, Aff2}
Valagussa, Alice^{Aff1, Aff2}
Thouenon, Romane^{Aff1, Aff2}
Fischer, Alain^{Aff3, Aff4, Aff5}
Kracker, Sven^{Aff1, Aff2, IDs10875023015598_cor5}
DB Label: Database : Springer Nature Journals

원문보기: 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - RISS

Clinical and functional spectrum of RAC2-related immunodeficiency

학술저널

issue: In Blood 11 April 2024 143(15):1476-1487
Author: Donkó, Ágnes
Sharapova, Svetlana O.
Kabat, Juraj
Ganesan, Sundar
Hauck, Fabian H.
Bergerson, Jenna R. E.
Marois, Louis
Abbott, Jordan
Moshous, Despina
Williams, Kelli W.
Campbell, Nicholas
Martin, Paul L.
Lagresle-Peyrou, Chantal
Trojan, Timothy
Kuzmenko, Natalia B.
Deordieva, Ekaterina A.
Raykina, Elena V.
Abers, Michael S.
Abolhassani, Hassan
Barlogis, Vincent
Milla, Carlos
Hall, Geoffrey
Mousallem, Talal
Church, Joseph
Kapoor, Neena
Cros, Guilhem
Chapdelaine, Hugo
Franco-Jarava, Clara
Lopez-Lerma, Ingrid
Miano, Maurizio
Leiding, Jennifer W.
Klein, Christoph
Stasia, Marie José
Fischer, Alain
Hsiao, Kuang-Chih
Martelius, Timi
Sepännen, Mikko R. J.
Barmettler, Sara
Walter, Jolan
Masmas, Tania N.
Mukhina, Anna A.
Falcone, Emilia Liana
Kracker, Sven
Shcherbina, Anna
Holland, Steven M.
Leto, Thomas L.
Hsu, Amy P.
DB Label: Database : ScienceDirect

원문보기: 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Loss-of-phosphorylation of IKZF1 results in gain-of-function associated with immune dysregulation

학술저널

issue: In The Journal of Allergy and Clinical Immunology January 2024
Author: Hoshino, Akihiro
Picard, Benoît Heid
Polychronopoulou, Sophia
Kelaidi, Charikleia
Azarnoush, Saba
Kracker, Sven
Rieux-Laucat, Frédéric
Boutboul, David
Latour, Sylvain
DB Label: Database : ScienceDirect

원문보기: Full Text (ScienceDirect) Full Text (Clinical Key) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Rescuing the cytolytic function of APDS1 patient T cells via TALEN-mediated PIK3CD gene correction

학술저널

issue: In Molecular Therapy - Methods & Clinical Development 14 December 2023 31
Author: Poggi, Lucie
Chentout, Loïc
Lizot, Sabrina
Boyne, Alex
Juillerat, Alexandre
Moiani, Arianna
Luka, Marine
Carbone, Francesco
Ménager, Mickael
Cavazzana, Marina
Duchateau, Philippe
Valton, Julien
Kracker, Sven
DB Label: Database : ScienceDirect

원문보기: Full Text (ScienceDirect O/A) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited

학술저널

issue: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 43(1):181-191
Author: Allain, Vincent^{Aff1, Aff2}
Grandin, Virginie
Meignin, Véronique
Bertinchamp, Rémi
Boutboul, David^{Aff1, Aff2, Aff5}
Fieschi, Claire^{Aff1, Aff2, Aff5}
Galicier, Lionel^{Aff2, Aff5}
Gérard, Laurence^{Aff2, Aff5}
Malphettes, Marion^{Aff2, Aff5}
Bustamante, Jacinta^{Aff1, Aff3, Aff5, Aff6, Aff7}
Fusaro, Mathieu^{Aff1, Aff3}
Lambert, Nathalie
Rosain, Jérémie^{Aff1, Aff3}
Lenoir, Christelle^{Aff1, Aff8}
Kracker, Sven^{Aff1, Aff9}
Rieux-Laucat, Frédéric^{Aff1, Aff10}
Latour, Sylvain^{Aff1, Aff8}
de Villartay, Jean-Pierre^{Aff1, Aff11}
Picard, Capucine^{Aff1, Aff3, Aff5, Aff8, Aff12}
Oksenhendler, Eric^{Aff1, Aff2, Aff5, IDs10875022013685_cor20}
DB Label: Database : Springer Nature Journals

원문보기: 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - RISS

Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

학술저널

issue: In The Journal of Allergy and Clinical Immunology October 2023 152(4):984-996
Author: Seidel, Markus G.
Seppänen, Mikko R.J.
Gennery, Andrew
Kanariou, Maria G.
Tantou, Sofia
Grigoriadou, Sofia
Cericola, Gabriella
Hanitsch, Leif G.
Scheibenbogen, Carmen
Hlaváčková, Eva O.
Krivan, Gergely
McGuire, Frances K.
Leahy, Timothy Ronan
Edgar, John David M.
Bakhtiar, Shahrzad
Bader, Peter
Rohner, Geraldine Blanchard
Haerynck, Filomeen
Claes, Karlien
Lehmberg, Kai
Müller, Ingo
Farmand, Susan
Fasshauer, Maria
Graf, Dagmar
Neves, Joao Farela
Kostyuchenko, Larysa
Gonzalez-Granado, Luis Ignacio
Jeseňák, Miloš
Carrabba, Maria
Fabio, Giovanna
Pignata, Claudio
Giardino, Giuliana
Karadağ, Ilknur Kökçü
Yıldıran, Alişan
Hancioglu, Gonca
Králíčková, Pavlína
Steinmann, Sandra
Pietrucha, Barbara Maria
Gernert, Michael
Soomann, Maarja
Witte, Torsten
Markocsy, Adam
Wolska-Kusnierz, Beata
Randrianomenjanahary, Philippe
Rouger, Jérémie
Kostaridou, Stavroula
Zabara, Dariia V.
Rodina, Yulia A.
Shvets, Oksana A.
Maccari, Maria Elena
Wolkewitz, Martin
Schwab, Charlotte
Lorenzini, Tiziana
Leiding, Jennifer W.
Aladjdi, Nathalie
Abolhassani, Hassan
Abou-Chahla, Wadih
Aiuti, Alessandro
Azarnoush, Saba
Baris, Safa
Barlogis, Vincent
Barzaghi, Federica
Baumann, Ulrich
Bloomfield, Marketa
Bohynikova, Nadezda
Bodet, Damien
Boutboul, David
Bucciol, Giorgia
Buckland, Matthew S.
Burns, Siobhan O.
Cancrini, Caterina
Cathébras, Pascal
Cavazzana, Marina
Cheminant, Morgane
Chinello, Matteo
Ciznar, Peter
Coulter, Tanya I.
D’Aveni, Maud
Ekwall, Olov
Eric, Zelimir
Eren, Efrem
Fasth, Anders
Frange, Pierre
Fournier, Benjamin
Garcia-Prat, Marina
Gardembas, Martine
Geier, Christoph
Ghosh, Sujal
Goda, Vera
Hammarström, Lennart
Hauck, Fabian
Heeg, Maximilian
Heropolitanska-Pliszka, Edyta
Hilfanova, Anna
Jolles, Stephen
Karakoc-Aydiner, Elif
Kindle, Gerhard R.
Kiykim, Ayca
Klemann, Christian
Koletsi, Patra
Koltan, Sylwia
Kondratenko, Irina
Körholz, Julia
Krüger, Renate
Jeziorski, Eric
Levy, Romain
Le Guenno, Guillaume
Lefevre, Guillaume
Lougaris, Vassilios
Marzollo, Antonio
Mahlaoui, Nizar
Malphettes, Marion
Meinhardt, Andrea
Merlin, Etienne
Meyts, Isabelle
Milota, Tomas
Moreira, Fernando
Moshous, Despina
Mukhina, Anna
Neth, Olaf
Neubert, Jennifer
Neven, Benedicte
Nieters, Alexandra
Nove-Josserand, Raphaele
Oksenhendler, Eric
Ozen, Ahmet
Olbrich, Peter
Perlat, Antoinette
Pac, Malgorzata
Schmid, Jana Pachlopnik
Pacillo, Lucia
Parra-Martinez, Alba
Paschenko, Olga
Pellier, Isabelle
Sefer, Asena Pinar
Plebani, Alessandro
Plantaz, Dominique
Prader, Seraina
Raffray, Loic
Ritterbusch, Henrike
Riviere, Jacques G.
Rivalta, Beatrice
Rusch, Stephan
Sakovich, Inga
Savic, Sinisa
Scheible, Raphael
Schleinitz, Nicolas
Schuetz, Catharina
Schulz, Ansgar
Sediva, Anna
Semeraro, Michaela
Sharapova, Svetlana O.
Shcherbina, Anna
Slatter, Mary A.
Sogkas, Georgios
Soler-Palacin, Pere
Speckmann, Carsten
Stephan, Jean-Louis
Suarez, Felipe
Tommasini, Alberto
Trück, Johannes
Uhlmann, Annette
van Aerde, Koen J.
van Montfrans, Joris
von Bernuth, Horst
Warnatz, Klaus
Williams, Tony
Worth, Austen J.J.
Ip, Winnie
Picard, Capucine
Catherinot, Emilie
Nademi, Zohreh
Grimbacher, Bodo
Forbes Satter, Lisa R.
Kracker, Sven
Chandra, Anita
Condliffe, Alison M.
Ehl, Stephan
DB Label: Database : ScienceDirect

원문보기: Full Text (ScienceDirect) Full Text (Clinical Key) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - FRIC

A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome

학술저널