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Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 66663912.

Clinical and molecular features of X-linked hyper IgM syndrome – An experience from North India

Amit Rawat, Babu Mathew, Vignesh Pandiarajan, Ankur Jindal, Madhubala Sharma, Deepti Suri, Anju Gupta, Shubham Goel, Adil Karim, Biman Saikia, Ranjana W. Minz, Kohsuke Imai, Shigeaki Nonoyama, Osamu Ohara, Silvia Clara Giliani, Luigi D. Notarangelo, Koon-Wing Chan, Yu-Lung Lau, Surjit Singh

Clin Immunol. Author manuscript; available in PMC 2019 Jul 30.

Published in final edited form as: Clin Immunol. 2018 Oct; 195: 59–66. Published online 2018 Jul 25. doi: 10.1016/j.clim.2018.07.013

PMCID:: PMC6666391

Abstract Article PDF–980K

Select item 65611163.

An essential role for the Zn²⁺ transporter ZIP7 in B cell development

Consuelo Anzilotti, David J. Swan, Bertrand Boisson, Mukta Deobagkar-Lele, Cathy Oliveira, Pauline Chabosseau, Karin R Engelhardt, Xijin Xu, Rui Chen, Luis Alvarez, Rolando Berlinguer-Palmini, Katherine R. Bull, Eleanor Cawthorne, Adam P. Cribbs, Tanya L. Crockford, Tarana Singh Dang, Amy Fearn, Emma J. Fenech, Sarah J. de Jong, B. Christoffer Lagerholm, Cindy S. Ma, David Sims, Bert van den Berg, Yaobo Xu, Andrew J. Cant, Gary Kleiner, T. Ronan Leahy, M. Teresa de la Morena, Jennifer M. Puck, Ralph S. Shapiro, Mirjam van der Burg, J. Ross Chapman, John C. Christianson, Ben Davies, John A. McGrath, Stefan Przyborski, Mauro Santibanez Koref, Stuart G. Tangye, Andreas Werner, Guy A. Rutter, Sergi Padilla-Parra, Jean-Laurent Casanova, Richard J. Cornall, Mary Ellen Conley, Sophie Hambleton

Nat Immunol. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: Nat Immunol. 2019 Mar; 20(3): 350–361. Published online 2019 Feb 4. doi: 10.1038/s41590-018-0295-8

PMCID:: PMC6561116

Abstract Article PDF–2.4M

Select item 61816434.

Site-Specific Gene Editing of Human Hematopoietic Stem Cells for X-Linked Hyper-IgM Syndrome

Caroline Y. Kuo, Joseph D. Long, Beatriz Campo-Fernandez, Satiro de Oliveira, Aaron R. Cooper, Zulema Romero, Megan D. Hoban, Alok V. Joglekar, Georgia R. Lill, Michael L. Kaufman, Sorel Fitz-Gibbon, Xiaoyan Wang, Roger P. Hollis, Donald B. Kohn

Cell Rep. Author manuscript; available in PMC 2018 Oct 11.

Published in final edited form as: Cell Rep. 2018 May 29; 23(9): 2606–2616. doi: 10.1016/j.celrep.2018.04.103

PMCID:: PMC6181643

Abstract Article PDF–1.7M

Select item 61232975.

CD40 ligand deficiency causes functional defects of peripheral neutrophils that are improved by exogenous IFN-γ

Otavio Cabral-Marques, Tabata Takahashi França, Ashraf Al-Sbiei, Lena Friederike Schimke, Taj Ali Khan, Claudia Feriotti, Tania Alves da Costa, Osvaldo Reis Junior, Cristina Worm Weber, Janaíra Fernandes Ferreira, Fabiola Scancetti Tavares, Claudia Valente, Regina Sumiko Watanabe Di Gesu, Asif Iqbal, Gabriela Riemekasten, Gustavo Pessini Amarante-Mendes, José Alexandre Marzagão Barbuto, Beatriz Tavares Costa-Carvalho, Paulo Vitor Soeiro Pereira, Maria J. Fernandez-Cabezudo, Vera Lucia Garcia Calich, Luigi D. Notarangelo, Troy R. Torgerson, Basel K. al-Ramadi, Hans D. Ochs, Antonio Condino-Neto

J Allergy Clin Immunol. Author manuscript; available in PMC 2019 May 1.

Published in final edited form as: J Allergy Clin Immunol. 2018 Nov; 142(5): 1571–1588.e9. Published online 2018 Mar 5. doi: 10.1016/j.jaci.2018.02.026

PMCID:: PMC6123297

Abstract Article PDF–2.1M

Select item 60304726.

Disseminated Cutaneous Warts in X-Linked Hyper IgM Syndrome

Hsi-en Ho, Minji Byun, Charlotte Cunningham-Rundles

J Clin Immunol. Author manuscript; available in PMC 2018 Jul 5.

Published in final edited form as: J Clin Immunol. 2018 May; 38(4): 454–456. Published online 2018 May 5. doi: 10.1007/s10875-018-0505-z

PMCID:: PMC6030472

Article PDF–366K

Select item 59941817.

CD40LG duplication-associated autoimmune disease is silenced by non-random X-chromosome inactivation

Carole Le Coz, Melissa Trofa, Camille M. Syrett, Anna Martin, Harumi Jyonouchi, Soma Jyonouchi, Montserrat C. Anguera, Neil Romberg

J Allergy Clin Immunol. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: J Allergy Clin Immunol. 2018 Jun; 141(6): 2308–2311.e7. Published online 2018 Mar 2. doi: 10.1016/j.jaci.2018.02.010

PMCID:: PMC5994181

Article PDF–579K

Select item 53740298.

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

M. Teresa de la Morena, David Leonard, Troy R. Torgerson, Otavio Cabral-Marques, Mary Slatter, Asghar Aghamohammadi, Sharat Chandra, Luis Murguia-Favela, Francisco A. Bonilla, Maria Kanariou, Rongras Damrongwatanasuk, Caroline Y. Kuo, Christopher C. Dvorak, Isabelle Meyts, Karin Chen, Lisa Kobrynski, Neena Kapoor, Darko Richter, Daniela DiGiovanni, Fatima Dhalla, Evangelia Farmaki, Carsten Speckmann, Teresa Español, Anna Shcherbina, Imelda Celine Hanson, Jiri Litzman, John M. Routes, Melanie Wong, Ramsay Fuleihan, Suranjith L. Seneviratne, Trudy N. Small, Ales Janda, Liliana Bezrodnik, Reinhard Seger, Andrea Gomez Raccio, J. David M. Edgar, Janet Chou, Jordan K. Abbott, Joris van Montfrans, Luis Ignacio González-Granado, Nancy Bunin, Necil Kutukculer, Paul Gray, Gisela Seminario, Srdjan Pasic, Victor Aquino, Christian Wysocki, Hassan Abolhassani, Morna Dorsey, Charlotte Cunningham-Rundles, Alan P. Knutsen, John Sleasman, Beatriz Tavares Costa Carvalho, Antonio Condino-Neto, Eyal Grunebaum, Helen Chapel, Hans D. Ochs, Alexandra Filipovich, Mort Cowan, Andrew Gennery, Andrew Cant, Luigi D. Notarangelo, Chaim M. Roifman

J Allergy Clin Immunol. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: J Allergy Clin Immunol. 2017 Apr; 139(4): 1282–1292. Published online 2016 Sep 30. doi: 10.1016/j.jaci.2016.07.039

PMCID:: PMC5374029

Abstract Article PDF–720K

Select item 50399439.

Hyper IgM Syndrome: a Report from the USIDNET Registry

Emily A. Leven, Patrick Maffucci, Hans D. Ochs, Paul R. Scholl, Rebecca H. Buckley, Ramsay L. Fuleihan, Raif S. Geha, Coleen K. Cunningham, Francisco A. Bonilla, Mary Ellen Conley, Ronald M. Ferdman, Vivian Hernandez-Trujillo, Jennifer M. Puck, Kathleen Sullivan, Elizabeth A. Secord, Manish Ramesh, Charlotte Cunningham-Rundles

J Clin Immunol. Author manuscript; available in PMC 2017 Jul 1.

Published in final edited form as: J Clin Immunol. 2016 Jul; 36(5): 490–501. Published online 2016 May 17. doi: 10.1007/s10875-016-0291-4

PMCID:: PMC5039943

Abstract Article PDF–777K

Select item 454475310.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 438232911.

An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex

Sven Kracker, Michela Di Virgilio, Jeremy Schwartzentruber, Cyrille Cuenin, Monique Forveille, Marie-Céline Deau, Kevin M. McBride, Jacek Majewski, Anna Gazumyan, Suranjith Seneviratne, Bodo Grimbacher, Necil Kutukculer, Zdenko Herceg, Marina Cavazzana, Nada Jabado, Michel C. Nussenzweig, Alain Fischer, Anne Durandy

J Allergy Clin Immunol. 2015 Apr; 135(4): 998–1007.e6. doi: 10.1016/j.jaci.2014.08.030

PMCID:: PMC4382329

Abstract Article

Select item 415816512.

Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome

Lin-Lin Wang, Wei Zhou, Wei Zhao, Zhi-Qing Tian, Wei-Fan Wang, Xiao-Fang Wang, Tong-Xin Chen

J Immunol Res. 2014; 2014: 683160. Published online 2014 Aug 20. doi: 10.1155/2014/683160

PMCID:: PMC4158165

Abstract Article PDF–553K

Select item 351161313.

A novel homozygous mutation in Recombination Activating Gene 2 in two relatives with different clinical phenotypes: Omenn syndrome and Hyper-IgM syndrome

Janet Chou, Rima Hanna-Wakim, Irit Tirosh, Jennifer Kane, David Fraulino, Yu Nee Lee, Soha Ghanem, Iman Mahfouz, André Mégarbané, Gérard Lefranc, Adlette Inati, Ghassan Dbaibo, Silvia Giliani, Luigi D. Notarangelo, Raif S. Geha, Michel J. Massaad

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

Published in final edited form as: J Allergy Clin Immunol. 2012 Dec; 130(6): 1414–1416. Published online 2012 Jul 25. doi: 10.1016/j.jaci.2012.06.012