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PGM3 insufficiency: a glycosylation disorder causing a notable T cell defect.
Yang L, Zerbato B, Pessina A, Brambilla L, Andreani V, Frey-Jakobs S, Fliegauf M, Barbouche MR, Zhang Q, Chiaradonna F, Proietti M, Du X, Grimbacher B. Yang L, et al. Among authors: grimbacher b. Front Immunol. 2024 Dec 24;15:1500381. doi: 10.3389/fimmu.2024.1500381. eCollection 2024. Front Immunol. 2024. PMID: 39776909 Free PMC article.
Hyper-IgE syndromes: reviewing PGM3 deficiency.
Yang L, Fliegauf M, Grimbacher B. Yang L, et al. Among authors: grimbacher b. Curr Opin Pediatr. 2014 Dec;26(6):697-703. doi: 10.1097/MOP.0000000000000158. Curr Opin Pediatr. 2014. PMID: 25365149 Review.
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, Ozdemir MA, Jouhadi Z, Khadir K, Ben-Khemis L, Ben-Ali M, Ben-Mustapha I, Borchani L, Pfeifer D, Jakob T, Khemiri M, Asplund AC, Gustafsson MO, Lundin KE, Falk-Sörqvist E, Moens LN, Gungor HE, Engelhardt KR, Dziadzio M, Stauss H, Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, Rakhmanov M, Henneke P, Kraus H, Eibel H, Kölsch U, Nadifi S, Nilsson M, Bejaoui M, Schäffer AA, Smith CI, Dell A, Barbouche MR, Grimbacher B. Sassi A, et al. Among authors: grimbacher b. J Allergy Clin Immunol. 2014 May;133(5):1410-9, 1419.e1-13. doi: 10.1016/j.jaci.2014.02.025. Epub 2014 Apr 1. J Allergy Clin Immunol. 2014. PMID: 24698316 Free PMC article. Clinical Trial.
ZNF341 controls STAT3 expression and thereby immunocompetence.
Frey-Jakobs S, Hartberger JM, Fliegauf M, Bossen C, Wehmeyer ML, Neubauer JC, Bulashevska A, Proietti M, Fröbel P, Nöltner C, Yang L, Rojas-Restrepo J, Langer N, Winzer S, Engelhardt KR, Glocker C, Pfeifer D, Klein A, Schäffer AA, Lagovsky I, Lachover-Roth I, Béziat V, Puel A, Casanova JL, Fleckenstein B, Weidinger S, Kilic SS, Garty BZ, Etzioni A, Grimbacher B. Frey-Jakobs S, et al. Among authors: grimbacher b. Sci Immunol. 2018 Jun 15;3(24):eaat4941. doi: 10.1126/sciimmunol.aat4941. Sci Immunol. 2018. PMID: 29907690 Free PMC article.
Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2.
Klemann C, Camacho-Ordonez N, Yang L, Eskandarian Z, Rojas-Restrepo JL, Frede N, Bulashevska A, Heeg M, Al-Ddafari MS, Premm J, Seidl M, Ammann S, Sherkat R, Radhakrishnan N, Warnatz K, Unger S, Kobbe R, Hüfner A, Leahy TR, Ip W, Burns SO, Fliegauf M, Grimbacher B. Klemann C, et al. Among authors: grimbacher b. Front Immunol. 2019 Mar 19;10:297. doi: 10.3389/fimmu.2019.00297. eCollection 2019. Front Immunol. 2019. PMID: 30941118 Free PMC article.
Corrigendum: Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency.
Eskandarian Z, Fliegauf M, Bulashevska A, Proietti M, Hague R, Smulski CR, Schubert D, Warnatz K, Grimbacher B. Eskandarian Z, et al. Among authors: grimbacher b. Front Immunol. 2019 Jun 28;10:1490. doi: 10.3389/fimmu.2019.01490. eCollection 2019. Front Immunol. 2019. PMID: 31316524 Free PMC article.
Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1.
Schröder C, Sogkas G, Fliegauf M, Dörk T, Liu D, Hanitsch LG, Steiner S, Scheibenbogen C, Jacobs R, Grimbacher B, Schmidt RE, Atschekzei F. Schröder C, et al. Among authors: grimbacher b. Front Immunol. 2019 Nov 14;10:2618. doi: 10.3389/fimmu.2019.02618. eCollection 2019. Front Immunol. 2019. PMID: 31803180 Free PMC article.
343 results