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Select item 87274351.

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

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Select item 85935552.

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

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Select item 63656613.

A case of anhidrotic ectodermal dysplasia presenting with pyrexia, atopic eczema, and food allergy

Tamaho Suzuki, Hanako Tajima, Makoto Migita, Ruby Pawankar, Takeshi Yanagihara, Atsushi Fujita, Yoshio Shima, Emi Yanai, Yasuhiko Katsube

Asia Pac Allergy. 2019 Jan; 9(1): e3. Published online 2019 Jan 14. doi: 10.5415/apallergy.2019.9.e3

PMCID:: PMC6365661

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Select item 59558304.

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

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Select item 57336405.

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

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Select item 53539886.

A Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family

Shahram Torkamandi, Milad Gholami, Javad Mohammadi-asl, Somaye Rezaie, Mohammad Ali Zaimy, Mir Davood Omrani

Int J Mol Cell Med. 2016 Autumn; 5(4): 260–263. Published online 2016 Oct 23.

PMCID:: PMC5353988

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Select item 41033027.

Autosomal Recessive Anhidrotic Ectodermal Dysplasia: A Rare Entity

Sangita Ghosh, Epsita Ghosh, Surabhi Dayal

Indian J Dermatol. 2014 Jul-Aug; 59(4): 422. doi: 10.4103/0019-5154.135541

PMCID:: PMC4103302

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Select item 38371178.

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

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Select item 34507889.

Hypohidrotic (Anhidrotic) Ectodermal dysplasia — A rare cause of childhood Atrophic Rhinitis”

K. S. Dasgupta, Samir V. Joshi, Surendra H. Gawarle, N. S. N. Murkey, Atul Avad

Indian J Otolaryngol Head Neck Surg. 2006 Apr; 58(2): 202–204. doi: 10.1007/BF03050792

Correction in:: Indian J Otolaryngol Head Neck Surg. 2006 Oct; 58(4): 351.

Correction in:: Indian J Otolaryngol Head Neck Surg. 2006 Jul; 58(3): 228.

PMCID:: PMC3450788

Summary PDF–980K Cite

Select item 325132710.

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

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Select item 323175511.

X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle

Cord Drögemüller, Ottmar Distl, Tosso Leeb

Genet Sel Evol. 2003; 35(Suppl 1): S137–S145. Published online 2003 Jun 15. doi: 10.1186/1297-9686-35-S1-S137

PMCID:: PMC3231755

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Select item 322456212.

A novel point mutation within the EDA gene causes an exon dropping in mature RNA in Holstein Friesian cattle breed affected by X-linked anhidrotic ectodermal dysplasia

Maria Gargani, Alessio Valentini, Lorraine Pariset

BMC Vet Res. 2011; 7: 35. Published online 2011 Jul 8. doi: 10.1186/1746-6148-7-35

PMCID:: PMC3224562

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Select item 298431013.

La dysplasie ectodermique anhydrotique: à propos d’un cas au Centre Mère et Enfant de la Fondation Chantal Biya, Yaoundé, Cameroun

Chelo David, Njiki Kinkela Mina, Monebenimp Francisca, Nguefack Séraphin, Ngaha Augustin, Tietche Félix

Pan Afr Med J. 2010; 4: 9. French. Publication en ligne 2010 mars 11. DOI : 10.4314/pamj.v4i1.53601

PMCID:: PMC2984310

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Select item 251511614.

Essential role of nuclear factor-κB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes

Marcos Luengo-Blanco, Carolina Prando, Jacinta Bustamante, Walmir Cutrim Aragão-Filho, Paulo Vitor Soeiro Pereira, Jussara Rehder, Carolyn Padden, Jean-Laurent Casanova, Peter E. Newburger, Antonio Condino-Neto

Blood. 2008 Aug 15; 112(4): 1453–1460. Prepublished online 2008 Jun 3. doi: 10.1182/blood-2007-07-099267