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131 results

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Page 1
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.
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
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. Among authors: burns so. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
Ghosh S, Köstel Bal S, Edwards ESJ, Pillay B, Jiménez Heredia R, Erol Cipe F, Rao G, Salzer E, Zoghi S, Abolhassani H, Momen T, Gostick E, Price DA, Zhang Y, Oler AJ, Gonzaga-Jauregui C, Erman B, Metin A, Ilhan I, Haskologlu S, Islamoglu C, Baskin K, Ceylaner S, Yilmaz E, Unal E, Karakukcu M, Berghuis D, Cole T, Gupta AK, Hauck F, Kogler H, Hoepelman AIM, Baris S, Karakoc-Aydiner E, Ozen A, Kager L, Holzinger D, Paulussen M, Krüger R, Meisel R, Oommen PT, Morris E, Neven B, Worth A, van Montfrans J, Fraaij PLA, Choo S, Dogu F, Davies EG, Burns S, Dückers G, Becker RP, von Bernuth H, Latour S, Faraci M, Gattorno M, Su HC, Pan-Hammarström Q, Hammarström L, Lenardo MJ, Ma CS, Niehues T, Aghamohammadi A, Rezaei N, Ikinciogullari A, Tangye SG, Lankester AC, Boztug K. Ghosh S, et al. Blood. 2020 Dec 3;136(23):2638-2655. doi: 10.1182/blood.2020006738. Blood. 2020. PMID: 32603431 Free PMC article. Clinical Trial.
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
Haimel M, Pazmandi J, Heredia RJ, Dmytrus J, Bal SK, Zoghi S, van Daele P, Briggs TA, Wouters C, Bader-Meunier B, Aeschlimann FA, Caorsi R, Eleftheriou D, Hoppenreijs E, Salzer E, Bakhtiar S, Derfalvi B, Saettini F, Kusters MAA, Elfeky R, Trück J, Rivière JG, van der Burg M, Gattorno M, Seidel MG, Burns S, Warnatz K, Hauck F, Brogan P, Gilmour KC, Schuetz C, Simon A, Bock C, Hambleton S, de Vries E, Robinson PN, van Gijn M, Boztug K. Haimel M, et al. J Allergy Clin Immunol. 2022 Jan;149(1):369-378. doi: 10.1016/j.jaci.2021.04.033. Epub 2021 May 12. J Allergy Clin Immunol. 2022. PMID: 33991581 Free PMC article.
The efficacy and safety of systemic corticosteroids as first line treatment for granulomatous lymphocytic interstitial lung disease.
Smits B, Goldacker S, Seneviratne S, Malphettes M, Longhurst H, Mohamed OE, Witt-Rautenberg C, Leeman L, Schwaneck E, Raymond I, Meghit K, Uhlmann A, Winterhalter C, van Montfrans J, Klima M, Workman S, Fieschi C, Lorenzo L, Boyle S, Onyango-Odera S, Price S, Schmalzing M, Aurillac V, Prasse A, Hartmann I, Meerburg JJ, Kemner-van de Corput M, Tiddens H, Grimbacher B, Kelleher P, Patel SY, Korganow AS, Viallard JF, Tony HP, Bethune C, Schulze-Koops H, Witte T, Huissoon A, Baxendale H, Grigoriadou S, Oksenhendler E, Burns SO, Warnatz K. Smits B, et al. Among authors: burns so. J Allergy Clin Immunol. 2023 Aug;152(2):528-537. doi: 10.1016/j.jaci.2022.12.813. Epub 2022 Dec 29. J Allergy Clin Immunol. 2023. PMID: 36587851 Clinical Trial.
Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma.
Minskaia E, Maimaris J, Jenkins P, Albuquerque AS, Hong Y, Eleftheriou D, Gilmour KC, Grace R, Moreira F, Grimbacher B; NIHR Bioresource-Rare Diseases Consortium; Morris EC, Burns SO. Minskaia E, et al. Among authors: burns so. J Clin Immunol. 2023 Oct;43(7):1611-1622. doi: 10.1007/s10875-023-01530-7. Epub 2023 Jun 14. J Clin Immunol. 2023. PMID: 37316763 Free PMC article.
131 results