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Select item 85935551.

An infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report

Miwako Toyohara, Yuko Kajiho, Etsushi Toyofuku, Chie Takahashi, Keiho Owada, Shoichiro Kanda, Yutaka Harita, Hidenori Ohnishi, Taizo Wada, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Akira Oka

Clin Case Rep. 2021 Nov; 9(11): e05093. Published online 2021 Nov 16. doi: 10.1002/ccr3.5093

PMCID:: PMC8593555

Abstract Article PDF–457K

Select item 59558302.

ORAI1 mutations abolishing store-operated Ca²⁺ entry cause anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID)

Jayson Lian, Mario Cuk, Sascha Kahlfuss, Lina Kozhaya, Martin Vaeth, Frédéric Rieux-Laucat, Capucine Picard, Melina J. Benson, Antonia Jakovcevic, Karmen Bilic, Iva Martinac, Peter Stathopulos, Imre Kacskovics, Thomas Vraetz, Carsten Speckmann, Stephan Ehl, Thomas Issekutz, Derya Unutmaz, Stefan Feske

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

Published in final edited form as: J Allergy Clin Immunol. 2018 Oct; 142(4): 1297–1310.e11. Published online 2017 Nov 16. doi: 10.1016/j.jaci.2017.10.031

PMCID:: PMC5955830

Abstract Article PDF–2.0M

Select item 57336403.

Severe disease and greater impairment of NF-κB activation in IκBa point mutants versus truncation mutants in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

Daniel Petersheim, Michel J. Massaad, Saetbyul Lee, Alessia Scarselli, Caterina Cancrini, Kunihiko Moriya, Yoji Sasahara, Arjan C. Lankester, Morna Dorsey, Daniela Di Giovanni, Liliana Bezrodnik, Hidenori Ohnishi, Ryuta Nishikomori, Kay Tanita, Hirokazu Kanegane, Tomohiro Morio, Erwin W. Gelfand, Ashish Jain, Elizabeth Secord, Capucine Picard, Jean-Laurent Casanova, Michael H. Albert, Troy R. Torgerson, Raif S. Geha

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

Published in final edited form as: J Allergy Clin Immunol. 2018 Mar; 141(3): 1060–1073.e3. Published online 2017 Jun 17. doi: 10.1016/j.jaci.2017.05.030

PMCID:: PMC5733640

Abstract Article PDF–1.5M

Select item 49444834.

BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency

Armine Darbinyan, Eugene O. Major, Susan Morgello, Steven Holland, Caroline Ryschkewitsch, Maria Chiara Monaco, Thomas P. Naidich, Joshua Bederson, Joanna Malaczynska, Fei Ye, Ronald Gordon, Charlotte Cunningham-Rundles, Mary Fowkes, Nadejda M. Tsankova

Acta Neuropathol Commun. 2016; 4: 73. Published online 2016 Jul 13. doi: 10.1186/s40478-016-0342-3

PMCID:: PMC4944483

Abstract Article PDF–3.4M

Select item 38371175.

Two-sided Ubiquitin Binding of NF-κB Essential Modulator (NEMO) Zinc Finger Unveiled by a Mutation Associated with Anhidrotic Ectodermal Dysplasia with Immunodeficiency Syndrome

Flora Ngadjeua, Jeanne Chiaravalli, François Traincard, Bertrand Raynal, Elisabeth Fontan, Fabrice Agou

J Biol Chem. 2013 Nov 22; 288(47): 33722–33737. Published online 2013 Oct 7. doi: 10.1074/jbc.M113.483305

PMCID:: PMC3837117

Abstract Article PDF–2.1M

Select item 33419836.

Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Coincident NEMO and EDA Mutations

Michael D. Keller, Maureen Petersen, Peck Ong, Joseph Church, Kimberly Risma, Jon Burham, Ashish Jain, E. Richard Stiehm, Eric P. Hanson, Gulbu Uzel, Matthew A. Deardorff, Jordan S. Orange

Front Immunol. 2011; 2: 61. Prepublished online 2011 Oct 3. Published online 2011 Nov 8. doi: 10.3389/fimmu.2011.00061

PMCID:: PMC3341983

Abstract Article PDF–850K

Select item 32513277.

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

Marjorie Hubeau, Flora Ngadjeua, Anne Puel, Laura Israel, Jacqueline Feinberg, Maya Chrabieh, Kiran Belani, Christine Bodemer, Isabelle Fabre, Alessandro Plebani, Stéphanie Boisson-Dupuis, Capucine Picard, Alain Fischer, Alain Israel, Laurent Abel, Michel Veron, Jean-Laurent Casanova, Fabrice Agou, Jacinta Bustamante

Blood. 2011 Jul 28; 118(4): 926–935. Prepublished online 2011 May 26. doi: 10.1182/blood-2010-10-315234

PMCID:: PMC3251327

Abstract Article

Select item 31771398.

Congenital alterations of glutamic acid 223 in the second NEMO alpha-helix result in Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Normal Serum IgG Levels

Gital Karamchandani-Patel, Eric P. Hanson, Rushani Saltzman, C. Eve Kimball, Ricardo U. Sorensen, Jordan S. Orange

Ann Allergy Asthma Immunol. Author manuscript; available in PMC 2012 Jul 1.

Published in final edited form as: Ann Allergy Asthma Immunol. 2011 Jul; 107(1): 50–56. Published online 2011 May 4. doi: 10.1016/j.anai.2011.03.009

PMCID:: PMC3177139

Abstract Article PDF–559K

Select item 17195129.

Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO

E Carrol, A Gennery, T Flood, G Spickett, M Abinun

Arch Dis Child. 2003 Apr; 88(4): 340–341. doi: 10.1136/adc.88.4.340

PMCID:: PMC1719512

Summary PDF–76K

Select item 943227210.

Inborn errors of immunity associated with characteristic phenotypes

Maine Luellah Demaret Bardou, Marina Teixeira Henriques, Anete Sevciovic Grumach

J Pediatr (Rio J) 2021 Mar-Apr; 97(Suppl 1): S75–S83. Published online 2020 Dec 19. doi: 10.1016/j.jped.2020.10.015

PMCID:: PMC9432272

Abstract Article PDF–681K

Select item 932217511.

Critical Roles of NF-κB Signaling Molecules in Bone Metabolism Revealed by Genetic Mutations in Osteopetrosis

Eijiro Jimi, Takenobu Katagiri

Int J Mol Sci. 2022 Jul; 23(14): 7995. Published online 2022 Jul 20. doi: 10.3390/ijms23147995

PMCID:: PMC9322175

Abstract Article PDF–1.3M

Select item 872743512.

Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles

Satoshi Inaba, Yuta Aizawa, Yuki Miwa, Chihaya Imai, Hidenori Ohnishi, Hirokazu Kanegane, Akihiko Saitoh

Front Immunol. 2021; 12: 786164. Published online 2021 Dec 22. doi: 10.3389/fimmu.2021.786164

PMCID:: PMC8727435

Abstract Article PDF–13M

Select item 817665413.

Heterozygous IKKβ Activation Loop Mutation Results in a Complex Immunodeficiency Syndrome

Jordan Abbott, Angelica C Ehler, Divya Jayaraman, Paul R Reynolds, Kanao Otsu, Laurie Manka, Erwin W Gelfand

J Allergy Clin Immunol. Author manuscript; available in PMC 2022 Feb 1.

Published in final edited form as: J Allergy Clin Immunol. 2021 Feb; 147(2): 737–740.e6. Published online 2020 Jun 15. doi: 10.1016/j.jaci.2020.06.007

PMCID:: PMC8176654

Abstract Article PDF–839K

Select item 635524414.

Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiency

Bertrand Boisson, Yoshitaka Honda, Masahiko Ajiro, Jacinta Bustamante, Matthieu Bendavid, Andrew R. Gennery, Yuri Kawasaki, Jose Ichishima, Mitsujiro Osawa, Hiroshi Nihira, Takeshi Shiba, Takayuki Tanaka, Maya Chrabieh, Benedetta Bigio, Hong Hur, Yuval Itan, Yupu Liang, Satoshi Okada, Kazushi Izawa, Ryuta Nishikomori, Osamu Ohara, Toshio Heike, Laurent Abel, Anne Puel, Megumu K. Saito, Jean-Laurent Casanova, Masatoshi Hagiwara, Takahiro Yasumi

J Clin Invest. 2019 Feb 1; 129(2): 583–597. Published online 2018 Dec 18. doi: 10.1172/JCI124011

PMCID:: PMC6355244

Abstract Article PDF–6.8M

Select item 614123915.

Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-кB essential modulator deficiency

Sung-Yun Pai, Ofer Levy, Haifa H. Jabara, Jonathan N. Glickman, Liat Stoler-Barak, Jessica Sachs, Samuel Nurko, Jordan S. Orange, Raif S. Geha

J Allergy Clin Immunol. Author manuscript; available in PMC 2018 Sep 17.

Published in final edited form as: J Allergy Clin Immunol. 2008 Dec; 122(6): 1113–1118.e1. Published online 2008 Oct 11. doi: 10.1016/j.jaci.2008.08.026

PMCID:: PMC6141239

Abstract Article PDF–733K

Select item 556339016.

Human IκBα gain of function: a severe and syndromic immunodeficiency

Bertrand Boisson, Anne Puel, Capucine Picard, Jean-Laurent Casanova

J Clin Immunol. Author manuscript; available in PMC 2018 Jul 1.

Published in final edited form as: J Clin Immunol. 2017 Jul; 37(5): 397–412. Published online 2017 Jun 9. doi: 10.1007/s10875-017-0400-z

PMCID:: PMC5563390

Abstract Article PDF–809K

Select item 476078417.

Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease

Jevgenia Zilberman-Rudenko, Linda Monaco Shawver, Alex W. Wessel, Yongquan Luo, Martin Pelletier, Wanxia Li Tsai, Younglang Lee, Spiridon Vonortas, Laurence Cheng, Jonathan D. Ashwell, Jordan S. Orange, Richard M. Siegel, Eric P. Hanson

Proc Natl Acad Sci U S A. 2016 Feb 9; 113(6): 1612–1617. Published online 2016 Jan 22. doi: 10.1073/pnas.1518163113

PMCID:: PMC4760784

Abstract Article PDF–1.0M

Select item 382315818.

The zinc finger domain of IKKγ (NEMO) protein in health and disease

Amde Selassie Shifera

J Cell Mol Med. 2010 Oct; 14(10): 2404–2414. Published online 2010 Mar 15. doi: 10.1111/j.1582-4934.2010.01054.x

PMCID:: PMC3823158

Abstract Article PDF–615K

Select item 331510119.

Genetic lessons learnt from X-linked Mendelian susceptibility to mycobacterial diseases

Jacinta Bustamante, Capucine Picard, Stéphanie Boisson-Dupuis, Laurent Abel, Jean-Laurent Casanova

Ann N Y Acad Sci. Author manuscript; available in PMC 2012 Dec 1.

Published in final edited form as: Ann N Y Acad Sci. 2011 Dec; 1246: 92–101. doi: 10.1111/j.1749-6632.2011.06273.x

PMCID:: PMC3315101

Abstract Article PDF–433K

Select item 313410020.

Dendritic cells from humans with hypomorphic mutations in NEMO have impaired mitogen-activated protein kinase activity

Chi A. Ma, Hong-Ying Wang, Stephane Temmerman, Yongge Zhao, Liming Wu, Ronald L. Hornung, Diane Wara, Ashish Jain

Hum Mutat. Author manuscript; available in PMC 2012 Mar 1.

Published in final edited form as: Hum Mutat. 2011 Mar; 32(3): 318–324. doi: 10.1002/humu.21439

PMCID:: PMC3134100

Abstract Article PDF–802K

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