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411 results

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Page 1
Ikaros family zinc finger 1 regulates dendritic cell development and function in humans.
Cytlak U, Resteu A, Bogaert D, Kuehn HS, Altmann T, Gennery A, Jackson G, Kumanovics A, Voelkerding KV, Prader S, Dullaers M, Reichenbach J, Hill H, Haerynck F, Rosenzweig SD, Collin M, Bigley V. Cytlak U, et al. Among authors: reichenbach j. Nat Commun. 2018 Mar 27;9(1):1239. doi: 10.1038/s41467-018-02977-8. Nat Commun. 2018. PMID: 29588478 Free PMC article.
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.
Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, Maffucci P, Pierce KR, Abbott JK, Voelkerding KV, South ST, Augustine NH, Bush JS, Dolen WK, Wray BB, Itan Y, Cobat A, Sorte HS, Ganesan S, Prader S, Martins TB, Lawrence MG, Orange JS, Calvo KR, Niemela JE, Casanova JL, Fleisher TA, Hill HR, Kumánovics A, Conley ME, Rosenzweig SD. Kuehn HS, et al. Among authors: reichenbach j. N Engl J Med. 2016 Mar 17;374(11):1032-1043. doi: 10.1056/NEJMoa1512234. N Engl J Med. 2016. PMID: 26981933 Free PMC article.
Modern management of phagocyte defects.
Lanini LL, Prader S, Siler U, Reichenbach J. Lanini LL, et al. Among authors: reichenbach j. Pediatr Allergy Immunol. 2017 Mar;28(2):124-134. doi: 10.1111/pai.12654. Epub 2016 Oct 13. Pediatr Allergy Immunol. 2017. PMID: 27612320 Review.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Among authors: reichenbach j. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay - management recommendations.
Trück J, Prader S, Natalucci G, Hagmann C, Brotschi B, Kelly J, Bassler D, Steindl K, Rauch A, Baumgartner M, Fingerhut R, Hauri-Hohl M, Güngör T, Pachlopnik Schmid J, Berger C, Reichenbach J. Trück J, et al. Among authors: reichenbach j. Swiss Med Wkly. 2020 Jun 24;150:w20254. doi: 10.4414/smw.2020.20254. eCollection 2020 Jun 15. Swiss Med Wkly. 2020. PMID: 32579701 Free article.
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.
Renner ED, Rylaarsdam S, Anover-Sombke S, Rack AL, Reichenbach J, Carey JC, Zhu Q, Jansson AF, Barboza J, Schimke LF, Leppert MF, Getz MM, Seger RA, Hill HR, Belohradsky BH, Torgerson TR, Ochs HD. Renner ED, et al. Among authors: reichenbach j. J Allergy Clin Immunol. 2008 Jul;122(1):181-7. doi: 10.1016/j.jaci.2008.04.037. J Allergy Clin Immunol. 2008. PMID: 18602572 Free PMC article.
Persistent mammalian orthoreovirus, coxsackievirus and adenovirus co-infection in a child with a primary immunodeficiency detected by metagenomic sequencing: a case report.
Lewandowska DW, Capaul R, Prader S, Zagordi O, Geissberger FD, Kügler M, Knorr M, Berger C, Güngör T, Reichenbach J, Shah C, Böni J, Zbinden A, Trkola A, Pachlopnik Schmid J, Huber M. Lewandowska DW, et al. Among authors: reichenbach j. BMC Infect Dis. 2018 Jan 11;18(1):33. doi: 10.1186/s12879-018-2946-7. BMC Infect Dis. 2018. PMID: 29325543 Free PMC article.
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations.
Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen MRJ, Fischer A, Grimbacher B, Edgar D, Buckland M, Mahlaoui N, Ehl S; European Society for Immunodeficiencies Registry Working Party. Thalhammer J, et al. J Allergy Clin Immunol. 2021 Nov;148(5):1332-1341.e5. doi: 10.1016/j.jaci.2021.04.015. Epub 2021 Apr 23. J Allergy Clin Immunol. 2021. PMID: 33895260 Free article.
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Jannière L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandené L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Blüetters-Sawatzki R, Bernhöft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Müller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PPW, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Özbek N, Aksu G, K… See abstract for full author list ➔ de Beaucoudrey L, et al. Among authors: reichenbach j. Medicine (Baltimore). 2010 Nov;89(6):381-402. doi: 10.1097/MD.0b013e3181fdd832. Medicine (Baltimore). 2010. PMID: 21057261 Free PMC article.
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