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Select item 74100741.

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID

Marcel Kuhny, Lisa R. Forbes, Elif Çakan, Andrea Vega-Loza, Valentyna Kostiuk, Ravi K. Dinesh, Salomé Glauzy, Asbjorg Stray-Pedersen, Ashley E. Pezzi, I. Celine Hanson, Alexander Vargas-Hernandez, Mina LuQuing Xu, Zeynep H. Coban-Akdemir, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Ivan K. Chinn, David G. Schatz, Jordan S. Orange, Eric Meffre

J Clin Invest. 2020 Aug 3; 130(8): 4411–4422. Published online 2020 Jul 20. doi: 10.1172/JCI131297

PMCID:: PMC7410074

Abstract Article PDF–2.4M

Select item 24913302.

High serum levels of BAFF, APRIL and TACI in Common Variable Immunodeficiency

Adina K Knight, Lin Radigan, Thomas Marron, Allison Langs, Li Zhang, Charlotte Cunningham-Rundles

Clin Immunol. Author manuscript; available in PMC 2008 Aug 1.

Published in final edited form as: Clin Immunol. 2007 Aug; 124(2): 182–189. Published online 2007 Jun 7. doi: 10.1016/j.clim.2007.04.012

PMCID:: PMC2491330

Abstract Article PDF–485K

Select item 26946143.

Autoimmune Manifestations in Common Variable Immunodeficiency

C. Cunningham-Rundles

J Clin Immunol. Author manuscript; available in PMC 2009 Jun 10.

Published in final edited form as: J Clin Immunol. 2008 May; 28(Suppl 1): S42–S45. Published online 2008 Mar 6. doi: 10.1007/s10875-008-9182-7

PMCID:: PMC2694614

Abstract Article PDF–287K

Select item 35823814.

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

Abdullah Alangari, Abdulrahman Alsultan, Nouran Adly, Michel J. Massaad, Iram Shakir Kiani, Abdulrahman Aljebreen, Emad Raddaoui, Abdul-Kareem Almomen, Saleh Al-Muhsen, Raif S. Geha, Fowzan S. Alkuraya

J Allergy Clin Immunol. Author manuscript; available in PMC 2013 Aug 1.

Published in final edited form as: J Allergy Clin Immunol. 2012 Aug; 130(2): 481–8.e2. Published online 2012 Jun 19. doi: 10.1016/j.jaci.2012.05.043

PMCID:: PMC3582381

Abstract Article PDF–1.2M

Select item 37271925.

Heterozygous Alterations of TNFRSF13B/TACI in Tonsillar Hypertrophy and Sarcoidosis

Matthaios Speletas, Ulrich Salzer, Zoe Florou, Efthimia Petinaki, Zoe Daniil, Fotini Bardaka, Konstantinos I. Gourgoulianis, Charalampos Skoulakis, Anastasios E. Germenis

Clin Dev Immunol. 2013; 2013: 532437. Published online 2013 Jul 15. doi: 10.1155/2013/532437

PMCID:: PMC3727192

Abstract Article PDF–498K

Select item 37757326.

Interferon Signature in the Blood in Inflammatory Common Variable Immune Deficiency

Joon Park, Indira Munagala, Hui Xu, Derek Blankenship, Patrick Maffucci, Damien Chaussabel, Jacques Banchereau, Virginia Pascual, Charlotte Cunningham-Rundles

PLoS One. 2013; 8(9): e74893. Published online 2013 Sep 17. doi: 10.1371/journal.pone.0074893

PMCID:: PMC3775732

Abstract Article PDF–3.9M

Select item 44440447.

Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells

Jin Li, Silje F. Jørgensen, S. Melkorka Maggadottir, Marina Bakay, Klaus Warnatz, Joseph Glessner, Rahul Pandey, Ulrich Salzer, Reinhold E. Schmidt, Elena Perez, Elena Resnick, Sigune Goldacker, Mary Buchta, Torsten Witte, Leonid Padyukov, Vibeke Videm, Trine Folseraas, Faranaz Atschekzei, James T. Elder, Rajan P. Nair, Juliane Winkelmann, Christian Gieger, Markus M Nöthen, Carsten Büning, Stephan Brand, Kathleen E. Sullivan, Jordan S. Orange, Børre Fevang, Stefan Schreiber, Wolfgang Lieb, Pål Aukrust, Helen Chapel, Charlotte Cunningham-Rundles, Andre Franke, Tom H. Karlsen, Bodo Grimbacher, Hakon Hakonarson, Lennart Hammarström, Eva Ellinghaus

Nat Commun. Author manuscript; available in PMC 2015 Oct 20.

Published in final edited form as: Nat Commun. 2015; 6: 6804. Published online 2015 Apr 20. doi: 10.1038/ncomms7804

PMCID:: PMC4444044

Abstract Article PDF–569K

Select item 51400378.

Regulatory T cell dysfunction in subjects with common variable immunodeficiency complicated by autoimmune disease

Grace P. Yu, David Chiang, Steven J. Song, Elisabeth G. Hoyte, Jennifer Huang, Christopher Vanishsarn, Kari C. Nadeau

Clin Immunol. Author manuscript; available in PMC 2016 Dec 6.

Published in final edited form as: Clin Immunol. 2009 May; 131(2): 240–253. Published online 2009 Jan 22. doi: 10.1016/j.clim.2008.12.006

PMCID:: PMC5140037

Abstract Article PDF–781K

Select item 55241809.

Recessively inherited LRBA mutations cause autoimmunity presenting as neonatal diabetes

Matthew B Johnson, Elisa De Franco, Hana Lango-Allen, Aisha Al Senani, Nancy Elbarbary, Zeynep Siklar, Merih Berberoglu, Zineb Imane, Alireza Haghighi, Irfan Ullah, Saif Alyaarubi, Daphne Gardner, Sian Ellard, Andrew T Hattersley, Sarah E Flanagan

Diabetes. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: Diabetes. 2017 Aug; 66(8): 2316–2322. Published online 2017 May 4. doi: 10.2337/db17-0040

Correction in:: Diabetes. 2018 Mar; 67(3): 532.

PMCID:: PMC5524180

Abstract Article PDF–535K

Select item 605020310.

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study

Federica Barzaghi, Laura Cristina Amaya Hernandez, Benedicte Neven, Silvia Ricci, Zeynep Yesim Kucuk, Jack J. Bleesing, Zohreh Nademi, Mary Anne Slatter, Erlinda Rose Ulloa, Anna Shcherbina, Anna Roppelt, Austen Worth, Juliana Silva, Alessandro Aiuti, Luis Murguia-Favela, Carsten Speckmann, Magda Carneiro-Sampaio, Juliana Folloni Fernandes, Safa Baris, Ahmet Ozen, Elif Karakoc-Aydiner, Ayca Kiykim, Ansgar Schulz, Sandra Steinmann, Lucia Dora Notarangelo, Eleonora Gambineri, Paolo Lionetti, William Thomas Shearer, Lisa R. Forbes, Caridad Martinez, Despina Moshous, Stephane Blanche, Alain Fisher, Frank M. Ruemmele, Come Tissandier, Marie Ouachee-Chardin, Frédéric Rieux-Laucat, Marina Cavazzana, Waseem Qasim, Barbarella Lucarelli, Michael H. Albert, Ichiro Kobayashi, Laura Alonso, Cristina Diaz De Heredia, Hirokazu Kanegane, Anita Lawitschka, Jong Jin Seo, Marta Gonzalez-Vicent, Miguel Angel Diaz, Rakesh Kumar Goyal, Martin G. Sauer, Akif Yesilipek, Minsoo Kim, Yesim Yilmaz-Demirdag, Monica Bhatia, Julie Khlevner, Erick J. Richmond Padilla, Silvana Martino, Davide Montin, Olaf Neth, Agueda Molinos-Quintana, Justo Valverde-Fernandez, Arnon Broides, Vered Pinsk, Antje Ballauf, Filomeen Haerynck, Victoria Bordon, Catharina Dhooge, Maria Laura Garcia-Lloret, Robbert G. Bredius, Krzysztof Ka1wak, Elie Haddad, Markus Gerhard Seidel, Gregor Duckers, Sung-Yun Pai, Christopher C. Dvorak, Stephan Ehl, Franco Locatelli, Frederick Goldman, Andrew Richard Gennery, Mort J. Cowan, Maria-Grazia Roncarolo, Rosa Bacchetta

J Allergy Clin Immunol. Author manuscript; available in PMC 2018 Jul 18.

Published in final edited form as: J Allergy Clin Immunol. 2018 Mar; 141(3): 1036–1049.e5. Published online 2017 Dec 11. doi: 10.1016/j.jaci.2017.10.041

PMCID:: PMC6050203

Abstract Article PDF–893K

Select item 634941511.

Primary Immunodeficiencies Associated with EBV Disease

Jeffrey I. Cohen

Curr Top Microbiol Immunol. Author manuscript; available in PMC 2019 Jan 28.

Published in final edited form as: Curr Top Microbiol Immunol. 2015; 390(Pt 1): 241–265. doi: 10.1007/978-3-319-22822-8_10

PMCID:: PMC6349415

Abstract Article PDF–369K

Select item 708671312.

Multiple Presentations of LRBA Deficiency: a Single-Center Experience

Sevgi Kostel Bal, Sule Haskologlu, Nina K. Serwas, Candan Islamoglu, Caner Aytekin, Tanil Kendirli, Zarife Kuloglu, Gulsan Yavuz, Buket Dalgic, Zeynep Siklar, Aydan Kansu, Arzu Ensari, Kaan Boztug, Figen Dogu, Aydan Ikinciogullari

J Clin Immunol. 2017; 37(8): 790–800. Published online 2017 Sep 27. doi: 10.1007/s10875-017-0446-y

PMCID:: PMC7086713

Abstract Article PDF–727K

Select item 1109004313.

A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects

Deniz Cagdas, Sevil Oskay Halaçlı, Çağman Tan, Bernice Lo, Pınar Gür Çetinkaya, Saliha Esenboğa, Betül Karaatmaca, Helen Matthews, Burcu Balcı-Hayta, Tuba Arıkoğlu, Fatih Ezgü, Elifcan Aladağ, İnci N. Saltık-Temizel, Hülya Demir, Barış Kuşkonmaz, Visal Okur, Fatma Gümrük, Hakan Göker, Duygu Çetinkaya, Kaan Boztuğ, Michael Lenardo, Özden Sanal, İlhan Tezcan

J Clin Immunol. Author manuscript; available in PMC 2024 May 13.

Published in final edited form as: J Clin Immunol. 2019 Oct; 39(7): 726–738. Published online 2019 Aug 20. doi: 10.1007/s10875-019-00677-6

PMCID:: PMC11090043

Abstract Article PDF–1.1M

Select item 752500014.

Gut Microbiota-Dependent Trimethylamine N-Oxide Associates With Inflammation in Common Variable Immunodeficiency

Magnhild E. Macpherson, Johannes R. Hov, Thor Ueland, Tuva B. Dahl, Martin Kummen, Kari Otterdal, Kristian Holm, Rolf K. Berge, Tom E. Mollnes, Marius Trøseid, Bente Halvorsen, Pål Aukrust, Børre Fevang, Silje F. Jørgensen

Front Immunol. 2020; 11: 574500. Published online 2020 Sep 16. doi: 10.3389/fimmu.2020.574500

PMCID:: PMC7525000

Abstract Article PDF–1.6M

Select item 796227415.

Recombinant Human C1 Esterase Inhibitor for the Management of Adverse Events Related to Intravenous Immunoglobulin Infusion in Patients With Common Variable Immunodeficiency or Polyneuropathy: A Pilot Open-Label Study

Isaac R. Melamed, Holly Miranda, Melinda Heffron, Joseph R. Harper

Front Immunol. 2021; 12: 632744. Published online 2021 Mar 2. doi: 10.3389/fimmu.2021.632744

PMCID:: PMC7962274

Abstract Article PDF–1.2M

Select item 824641816.

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer, Natalie Frede, Michele Proietti, Alla Bulashevska, Nadezhda Camacho-Ordonez, Markku Varjosalo, Matias Kinnunen, Esther de Vries, Jos W. M. van der Meer, Rohan Ameratunga, Chaim M. Roifman, Yael D. Schejter, Robin Kobbe, Timo Hautala, Faranaz Atschekzei, Reinhold E. Schmidt, Claudia Schröder, Polina Stepensky, Bella Shadur, Luis A. Pedroza, Michiel van der Flier, Mónica Martínez-Gallo, Luis Ignacio Gonzalez-Granado, Luis M. Allende, Anna Shcherbina, Natalia Kuzmenko, Victoria Zakharova, João Farela Neves, Peter Svec, Ute Fischer, Winnie Ip, Oliver Bartsch, Safa Barış, Christoph Klein, Raif Geha, Janet Chou, Mohammed Alosaimi, Lauren Weintraub, Kaan Boztug, Tatjana Hirschmugl, Maria Marluce Dos Santos Vilela, Dirk Holzinger, Maximilian Seidl, Vassilios Lougaris, Alessandro Plebani, Laia Alsina, Monica Piquer-Gibert, Angela Deyá-Martínez, Charlotte A. Slade, Asghar Aghamohammadi, Hassan Abolhassani, Lennart Hammarström, Outi Kuismin, Merja Helminen, Hana Lango Allen, James E. Thaventhiran, Alexandra F. Freeman, Matthew Cook, Shahrzad Bakhtiar, Mette Christiansen, Charlotte Cunningham-Rundles, Niraj C. Patel, William Rae, Tim Niehues, Nina Brauer, Jaana Syrjänen, Mikko R. J. Seppänen, Siobhan O. Burns, Paul Tuijnenburg, TacoW Kuijpers, Klaus Warnatz, Bodo Grimbacher

J Allergy Clin Immunol. Author manuscript; available in PMC 2021 Jul 1.

Published in final edited form as: J Allergy Clin Immunol. 2020 Oct; 146(4): 901–911. Published online 2020 Apr 9. doi: 10.1016/j.jaci.2019.11.051

Correction in:: J Allergy Clin Immunol. 2021 Nov; 148(5): 1345.

PMCID:: PMC8246418

Abstract Article PDF–1.7M

Select item 837422817.

Lymphadenopathy at the crossroad between immunodeficiency and autoinflammation: An intriguing challenge

Giorgio Costagliola, Rita Consolini

Clin Exp Immunol. 2021 Sep; 205(3): 288–305. Published online 2021 Jun 20. doi: 10.1111/cei.13620

PMCID:: PMC8374228

Abstract Article PDF–1.3M

Select item 863786518.

Immune Dysregulation in Patients With Chromosome 18q Deletions—Searching for Putative Loci for Autoimmunity and Immunodeficiency

Anna Hogendorf, Maciej Zieliński, Maria Constantinou, Robert Śmigiel, Jolanta Wierzba, Krystyna Wyka, Anna Wędrychowicz, Anna Jakubiuk-Tomaszuk, Edyta Budzynska, Malgorzata Piotrowicz, Beata S. Lipska-Ziętkiewicz, Ewa Kaczorowska, Agata Cieślikowska, Anna Kutkowska-Kaźmierczak, Jolanta Fijak-Moskal, Monika Kugaudo, Małgorzata Kosińska-Urbańska, Agnieszka Szadkowska, Maciej Borowiec, Maciej Niedźwiecki, Piotr Trzonkowski, Wojciech Młynarski

Front Immunol. 2021; 12: 742834. Published online 2021 Nov 17. doi: 10.3389/fimmu.2021.742834

PMCID:: PMC8637865

Abstract Article PDF–3.9M

Select item 871840819.

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study

Jessica Rojas-Restrepo, Andrés Caballero-Oteyza, Katrin Huebscher, Hanna Haberstroh, Manfred Fliegauf, Baerbel Keller, Robin Kobbe, Klaus Warnatz, Stephan Ehl, Michele Proietti, Bodo Grimbacher

Front Immunol. 2021; 12: 786516. Published online 2021 Dec 17. doi: 10.3389/fimmu.2021.786516

PMCID:: PMC8718408

Abstract Article PDF–4.2M

Select item 896458920.

The pediatric common variable immunodeficiency — from genetics to therapy: a review

Aleksandra Szczawinska-Poplonyk, Eyal Schwartzmann, Ewelina Bukowska-Olech, Michal Biernat, Stanislaw Gattner, Tomasz Korobacz, Filip Nowicki, Monika Wiczuk-Wiczewska

Eur J Pediatr. 2022; 181(4): 1371–1383. Published online 2021 Dec 23. doi: 10.1007/s00431-021-04287-6