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Page 1
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.
Gámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, Morio T, Worth AJJ, Blessing J, Van de Veerdonk F, Feuchtinger T, Kanariou M, Schmitt-Graeff A, Jung S, Seneviratne S, Burns S, Belohradsky BH, Rezaei N, Bakhtiar S, Speckmann C, Jordan M, Grimbacher B. Gámez-Díaz L, et al. J Allergy Clin Immunol. 2016 Jan;137(1):223-230. doi: 10.1016/j.jaci.2015.09.025. J Allergy Clin Immunol. 2016. PMID: 26768763
[Carcinosarcoma of the larynx].
Remadi S, Schmitt-Graeff A. Remadi S, et al. Rev Med Suisse Romande. 1992 Oct;112(10):859-63. Rev Med Suisse Romande. 1992. PMID: 1439432 French. No abstract available.
Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency.
Fuchs S, Rensing-Ehl A, Speckmann C, Bengsch B, Schmitt-Graeff A, Bondzio I, Maul-Pavicic A, Bass T, Vraetz T, Strahm B, Ankermann T, Benson M, Caliebe A, Fölster-Holst R, Kaiser P, Thimme R, Schamel WW, Schwarz K, Feske S, Ehl S. Fuchs S, et al. J Immunol. 2012 Feb 1;188(3):1523-33. doi: 10.4049/jimmunol.1102507. Epub 2011 Dec 21. J Immunol. 2012. PMID: 22190180 Free PMC article.
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.
Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, Schmitt-Graeff A, Schwarz K, Karasu GT, Zieger B, Zur Stadt U, Aichele P, Ehl S. Jessen B, et al. Blood. 2013 Apr 11;121(15):2943-51. doi: 10.1182/blood-2012-10-463166. Epub 2013 Feb 12. Blood. 2013. PMID: 23403622 Free PMC article.
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.
Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, Bulashevska A, Petersen BS, Schäffer AA, Grüning BA, Unger S, Frede N, Baumann U, Witte T, Schmidt RE, Dueckers G, Niehues T, Seneviratne S, Kanariou M, Speckmann C, Ehl S, Rensing-Ehl A, Warnatz K, Rakhmanov M, Thimme R, Hasselblatt P, Emmerich F, Cathomen T, Backofen R, Fisch P, Seidl M, May A, Schmitt-Graeff A, Ikemizu S, Salzer U, Franke A, Sakaguchi S, Walker LSK, Sansom DM, Grimbacher B. Schubert D, et al. Nat Med. 2014 Dec;20(12):1410-1416. doi: 10.1038/nm.3746. Epub 2014 Oct 20. Nat Med. 2014. PMID: 25329329 Free PMC article.
β2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system.
Ardeniz Ö, Unger S, Onay H, Ammann S, Keck C, Cianga C, Gerçeker B, Martin B, Fuchs I, Salzer U, İkincioğulları A, Güloğlu D, Dereli T, Thimme R, Ehl S, Schwarz K, Schmitt-Graeff A, Cianga P, Fisch P, Warnatz K. Ardeniz Ö, et al. J Allergy Clin Immunol. 2015 Aug;136(2):392-401. doi: 10.1016/j.jaci.2014.12.1937. Epub 2015 Feb 19. J Allergy Clin Immunol. 2015. PMID: 25702838
Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.
Fuchs S, Rensing-Ehl A, Pannicke U, Lorenz MR, Fisch P, Jeelall Y, Rohr J, Speckmann C, Vraetz T, Farmand S, Schmitt-Graeff A, Krüger M, Strahm B, Henneke P, Enders A, Horikawa K, Goodnow C, Schwarz K, Ehl S. Fuchs S, et al. Blood. 2015 Oct 1;126(14):1658-69. doi: 10.1182/blood-2015-03-631374. Epub 2015 Aug 19. Blood. 2015. PMID: 26289640 Free PMC article.
Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.
Elgizouli M, Lowe DM, Speckmann C, Schubert D, Hülsdünker J, Eskandarian Z, Dudek A, Schmitt-Graeff A, Wanders J, Jørgensen SF, Fevang B, Salzer U, Nieters A, Burns S, Grimbacher B. Elgizouli M, et al. Clin Exp Immunol. 2016 Feb;183(2):221-9. doi: 10.1111/cei.12706. Epub 2015 Nov 9. Clin Exp Immunol. 2016. PMID: 26437962 Free PMC article.
163 results