PubMed for id: 394295

Year	Number of Results
1994	1
2001	1
2003	2
2004	4
2005	2
2006	2
2008	4
2009	1
2010	3
2011	2
2012	2
2013	3
2015	2
2016	2
2017	1
2018	1
2019	1
2020	1
2021	2
2024	0

1

Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency.

Yu F, Agrebi N, Mackeh R, Abouhazima K, KhudaBakhsh K, Adeli M, Lo B, Hassan A, Machaca K. Yu F, et al. J Clin Immunol. 2021 Jul;41(5):1004-1015. doi: 10.1007/s10875-021-01004-8. Epub 2021 Mar 1. J Clin Immunol. 2021. PMID: 33650027 Free PMC article.

2

Inborn errors of immunity associated with characteristic phenotypes.

Bardou MLD, Henriques MT, Grumach AS. Bardou MLD, et al. J Pediatr (Rio J). 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. doi: 10.1016/j.jped.2020.10.015. Epub 2020 Dec 19. J Pediatr (Rio J). 2021. PMID: 33347837 Free PMC article. Review.

3

Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency.

Tuijnenburg P, Lango Allen H, de Bree GJ, Savic S, Jansen MH, Stockdale C, Simeoni I, Ten Berge IJM, van Leeuwen EMM; NIHR BioResource; Thaventhiran JE, Kuijpers TW. Tuijnenburg P, et al. Clin Immunol. 2019 Jun;203:23-27. doi: 10.1016/j.clim.2019.03.010. Epub 2019 Apr 3. Clin Immunol. 2019. PMID: 30953794 Free article.

4

ORAI1 mutations abolishing store-operated Ca²⁺ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.

Lian J, Cuk M, Kahlfuss S, Kozhaya L, Vaeth M, Rieux-Laucat F, Picard C, Benson MJ, Jakovcevic A, Bilic K, Martinac I, Stathopulos P, Kacskovics I, Vraetz T, Speckmann C, Ehl S, Issekutz T, Unutmaz D, Feske S. Lian J, et al. J Allergy Clin Immunol. 2018 Oct;142(4):1297-1310.e11. doi: 10.1016/j.jaci.2017.10.031. Epub 2017 Nov 16. J Allergy Clin Immunol. 2018. PMID: 29155098 Free PMC article.

5

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

Zilberman-Rudenko J, Shawver LM, Wessel AW, Luo Y, Pelletier M, Tsai WL, Lee Y, Vonortas S, Cheng L, Ashwell JD, Orange JS, Siegel RM, Hanson EP. Zilberman-Rudenko J, et al. Proc Natl Acad Sci U S A. 2016 Feb 9;113(6):1612-7. doi: 10.1073/pnas.1518163113. Epub 2016 Jan 22. Proc Natl Acad Sci U S A. 2016. PMID: 26802121 Free PMC article.

6

Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies.

D'Assante R, Fusco A, Palamaro L, Giardino G, Gallo V, Cirillo E, Pignata C. D'Assante R, et al. Int Rev Immunol. 2016;35(1):25-38. doi: 10.3109/08830185.2015.1010724. Epub 2015 Mar 16. Int Rev Immunol. 2016. PMID: 25774666 Review.

7

Defective lymphoid organogenesis underlies the immune deficiency caused by a heterozygous S32I mutation in IκBα.

Mooster JL, Le Bras S, Massaad MJ, Jabara H, Yoon J, Galand C, Heesters BA, Burton OT, Mattoo H, Manis J, Geha RS. Mooster JL, et al. J Exp Med. 2015 Feb 9;212(2):185-202. doi: 10.1084/jem.20140979. Epub 2015 Jan 19. J Exp Med. 2015. PMID: 25601653 Free PMC article.

8

Two-sided ubiquitin binding of NF-κB essential modulator (NEMO) zinc finger unveiled by a mutation associated with anhidrotic ectodermal dysplasia with immunodeficiency syndrome.

Ngadjeua F, Chiaravalli J, Traincard F, Raynal B, Fontan E, Agou F. Ngadjeua F, et al. J Biol Chem. 2013 Nov 22;288(47):33722-33737. doi: 10.1074/jbc.M113.483305. Epub 2013 Oct 7. J Biol Chem. 2013. PMID: 24100029 Free PMC article.

9

A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.

Schimke LF, Rieber N, Rylaarsdam S, Cabral-Marques O, Hubbard N, Puel A, Kallmann L, Sombke SA, Notheis G, Schwarz HP, Kammer B, Hökfelt T, Repp R, Picard C, Casanova JL, Belohradsky BH, Albert MH, Ochs HD, Renner ED, Torgerson TR. Schimke LF, et al. J Clin Immunol. 2013 Aug;33(6):1088-99. doi: 10.1007/s10875-013-9906-1. Epub 2013 May 25. J Clin Immunol. 2013. PMID: 23708964

10

Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.

Giampietro PF, Baker MW, Basehore MJ, Jones JR, Seroogy CM. Giampietro PF, et al. Am J Med Genet A. 2013 Jun;161A(6):1432-5. doi: 10.1002/ajmg.a.35885. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613309 Free PMC article.

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