Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2015 1
2016 2
2017 6
2018 3
2019 12
2020 7
2021 6
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

28 results

Results by year

Filters applied: . Clear all
Page 1
Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα).
Bainter W, Lougaris V, Wallace JG, Badran Y, Hoyos-Bachiloglu R, Peters Z, Wilkie H, Das M, Janssen E, Beano A, Farhat KB, Kam C, Bercich L, Incardona P, Villanacci V, Bondioni MP, Meini A, Baronio M, Abarzua P, Parolini S, Tabellini G, Maio S, Schmidt B, Goldsmith JD, Murphy G, Hollander G, Plebani A, Chou J, Geha RS. Bainter W, et al. Sci Immunol. 2021 Sep 17;6(63):eabf6723. doi: 10.1126/sciimmunol.abf6723. Epub 2021 Sep 17. Sci Immunol. 2021. PMID: 34533979 Free PMC article.
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
Vavassori S, Chou J, Faletti LE, Haunerdinger V, Opitz L, Joset P, Fraser CJ, Prader S, Gao X, Schuch LA, Wagner M, Hoefele J, Maccari ME, Zhu Y, Elakis G, Gabbett MT, Forstner M, Omran H, Kaiser T, Kessler C, Olbrich H, Frosk P, Almutairi A, Platt CD, Elkins M, Weeks S, Rubin T, Planas R, Marchetti T, Koovely D, Klämbt V, Soliman NA, von Hardenberg S, Klemann C, Baumann U, Lenz D, Klein-Franke A, Schwemmle M, Huber M, Sturm E, Hartleif S, Häffner K, Gimpel C, Brotschi B, Laube G, Güngör T, Buckley MF, Kottke R, Staufner C, Hildebrandt F, Reu-Hofer S, Moll S, Weber A, Kaur H, Ehl S, Hiller S, Geha R, Roscioli T, Griese M, Pachlopnik Schmid J. Vavassori S, et al. J Allergy Clin Immunol. 2021 Aug;148(2):381-393. doi: 10.1016/j.jaci.2021.03.045. Epub 2021 Apr 17. J Allergy Clin Immunol. 2021. PMID: 33872655 Free PMC article. Clinical Trial.
Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex.
Bainter W, Platt CD, Park SY, Stafstrom K, Wallace JG, Peters ZT, Massaad MJ, Becuwe M, Salinas SA, Jones J, Beaussant-Cohen S, Jaber F, Yang JS, Walther TC, Orange JS, Rao C, Rakoff-Nahoum S, Tsokos M, Naseem SUR, Al-Tamemi S, Chou J, Hsu VW, Geha RS. Bainter W, et al. J Clin Invest. 2021 Feb 1;131(3):e140494. doi: 10.1172/JCI140494. J Clin Invest. 2021. PMID: 33529166 Free PMC article.
ITK deficiency presenting as autoimmune lymphoproliferative syndrome.
Wallace JG, Alosaimi MF, Khayat CD, Jaber F, Almutairi A, Beaussant-Cohen S, Pinkus G, Fleming M, Mehawej C, Chou J, Geha RS. Wallace JG, et al. J Allergy Clin Immunol. 2021 Feb;147(2):743-745.e1. doi: 10.1016/j.jaci.2020.06.019. Epub 2020 Jul 4. J Allergy Clin Immunol. 2021. PMID: 32628964 Free PMC article.
Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation.
Chou J, Alazami AM, Jaber F, Hoyos-Bachiloglu R, Jones J, Weeks S, Alosaimi MF, Bainter W, Cangemi B, Badran YR, Mohammed R, Alroqi F, Almutairi A, Al-Onazi N, AlAjaji S, Al-Saud B, Arnaout R, Elkins M, Devana S, Imperial J, Li B, Drexhage L, Abdel Rahman AM, Jacob M, Haddad H, Hanna-Wakim R, Dbaibo G, Massaad MJ, Dasouki M, Mikhael R, Baz Z, Geha RS, Al-Mousa H. Chou J, et al. J Allergy Clin Immunol. 2020 Jul;146(1):192-202. doi: 10.1016/j.jaci.2019.12.004. Epub 2019 Dec 17. J Allergy Clin Immunol. 2020. PMID: 31862378 Clinical Trial.
Dysregulated actin dynamics in activated PI3Kδ syndrome.
Wallace JG, Zambrano-Rodas P, Córdova-Calderón W, Estrada-Turriate S, Mendoza-Quispe D, Limache Ontiveros Y, Geha RS, Chou J, Platt CD. Wallace JG, et al. Clin Immunol. 2020 Jan;210:108311. doi: 10.1016/j.clim.2019.108311. Epub 2019 Nov 21. Clin Immunol. 2020. PMID: 31760094 Free PMC article.
28 results