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Page 1
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M; Genomics England Research Consortium; Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM. Wang L, et al. Among authors: elcombe s. Nat Genet. 2021 Apr;53(4):500-510. doi: 10.1038/s41588-021-00803-4. Epub 2021 Mar 29. Nat Genet. 2021. PMID: 33782605 Free PMC article.
Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care.
Israni M, Alderson E, Mahlaoui N, Obici L, Rossi-Semerano L, Lachmann H, Avramovič MZ, Guffroy A, Dalm V, Rimmer R, Solis L, Villar C, Gennery AR, Skeffington S, Nordin J, Warnatz K, Korganow AS, Antón J, Cattalini M, Berg S, Soler-Palacin P, Campbell M, Burns SO; ESID Clinical Working Party; ERN RITA Transition Working Group Consortium. Israni M, et al. J Clin Immunol. 2024 Dec 17;45(1):57. doi: 10.1007/s10875-024-01838-y. J Clin Immunol. 2024. PMID: 39690292 Free PMC article.
Allogeneic hematopoietic stem cell transplantation for STAT3 hyper-IgE syndrome: a worldwide study.
Tsilifis C, Raedler J, Renke J, Medinger M, Laberko A, Haraldsson Á, Patel N, Ciznar P, Wong M, Keogh SJ, Gray P, Mitchell R, Bigley V, Elcombe S, Hauck F, Albert MH, Tholouli E, Herwadkar A, Elkhalifa S, Kosmidis C, Callisti G, Burroughs LM, Chen K, Carpenter B, Fox TA, Morris EC, Uppuluri R, Raj R, Yanagimachi M, Buddingh EP, Oikonomopoulou C, Gonzalez C, Dimitrova D, Kanakry JA, Arnold D, Pai SY, Slatter MA, Pearce MS, Worth A, Freeman AF, Gennery AR. Tsilifis C, et al. Among authors: elcombe s. Blood Adv. 2025 Aug 26;9(16):4126-4135. doi: 10.1182/bloodadvances.2025016158. Blood Adv. 2025. PMID: 40540800 Free PMC article.
Clinical and Molecular Characteristics of X-Linked Agammaglobulinemia Patients 55 Years or Older.
Chin AT, Ochs HD, Kobayashi R, Abolhassani H, Alachkar H, Barmettler S, Baxendale H, Boiling K, Catanzaro J, Chua I, Coulter T, Cunningham-Rundles C, Elcombe SE, Fischer A, Grimbacher B, Gupta S, Herriot R, Herwadkar A, Imai K, Inoue S, Kirkpatrick C, Knutsen AP, Kumararatne D, Lea E, Lin MW, Litzman J, Mahlaoui N, Moriya K, Nonoyama S, Patel S, Perez E, Quinti I, Hostoffer RW, Rothenfusser S, Sargur R, Shields A, Sogkas G, Suan D, Tan T, Thomas M, Warnatz K, Younger EM, Kuo CY. Chin AT, et al. Among authors: elcombe se. J Allergy Clin Immunol Pract. 2025 Oct;13(10):2806-2816.e6. doi: 10.1016/j.jaip.2025.06.025. Epub 2025 Jun 24. J Allergy Clin Immunol Pract. 2025. PMID: 40571245
An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia.
Nishimura A, Uppuluri R, Raj R, Swaminathan VV, Cheng Y, Abu-Arja RF, Fu B, Laberko A, Albert MH, Hauck F, Bucciol G, Bigley V, Elcombe S, Kharya G, Pronk CJH, Wehr C, Neven B, Warnatz K, Meyts I, Morio T, Gennery AR, Kanegane H. Nishimura A, et al. Among authors: elcombe s. J Clin Immunol. 2023 Nov;43(8):1827-1839. doi: 10.1007/s10875-023-01551-2. Epub 2023 Jul 16. J Clin Immunol. 2023. PMID: 37454339 Review.
Chronic norovirus infection in immunodeficiency: A UK national case series.
Grammatikos A, Mangtani A, Ponsford M, Jolles S, McDermott E, Johnston S, Frleta-Gilchrist M, Yong P, Moghaddas F, Thomas M, Patel S, Blundell C, Bright P, Drewe E, Elcombe S, Herwadkar A, Murng S, Kim DI, Gompels M, Lowe D. Grammatikos A, et al. Among authors: elcombe s. J Allergy Clin Immunol Pract. 2025 Jun;13(6):1489-1492. doi: 10.1016/j.jaip.2025.02.026. Epub 2025 Feb 27. J Allergy Clin Immunol Pract. 2025. PMID: 40023369 Free article. No abstract available.
Hematopoietic stem cell transplantation for CTLA-4 insufficiency across Europe: A European Society for Blood and Marrow Transplantation Inborn Errors Working Party study.
Tsilifis C, Speckmann C, Lum SH, Fox TA, Soler AM, Mozo Y, Corral D, Ewins AM, Hague R, Oikonomopoulou C, Kałwak K, Drabko K, Wynn R, Morris EC, Elcombe S, Bigley V, Lougaris V, Malagola M, Hauck F, Sedlacek P, Laberko A, Tjon JML, Buddingh EP, Wehr C, Grimbacher B, Gennery AR, Lankester AC, Albert MH, Neven B, Slatter MA. Tsilifis C, et al. Among authors: elcombe s. J Allergy Clin Immunol. 2024 Dec;154(6):1534-1544. doi: 10.1016/j.jaci.2024.08.020. Epub 2024 Aug 30. J Allergy Clin Immunol. 2024. PMID: 39218359 Free article.
Allogeneic haematopoietic stem cell transplantation for VEXAS syndrome: UK experience.
Al-Hakim A, Poulter JA, Mahmoud D, Rose AMS, Elcombe S, Lachmann H, Cargo C, Duncan CJA, Bishton M, Bigley V, Khan A, Savic S. Al-Hakim A, et al. Among authors: elcombe s. Br J Haematol. 2022 Dec;199(5):777-781. doi: 10.1111/bjh.18488. Epub 2022 Oct 2. Br J Haematol. 2022. PMID: 36184391 Free article. No abstract available.
SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings from the COV-AD Study.
Shields AM, Faustini SE, Hill HJ, Al-Taei S, Tanner C, Ashford F, Workman S, Moreira F, Verma N, Wagg H, Heritage G, Campton N, Stamataki Z, Klenerman P, Thaventhiran JED, Goddard S, Johnston S, Huissoon A, Bethune C, Elcombe S, Lowe DM, Patel SY, Savic S, Burns SO, Richter AG; COV-AD consortium. Shields AM, et al. Among authors: elcombe s. J Clin Immunol. 2022 Jul;42(5):923-934. doi: 10.1007/s10875-022-01231-7. Epub 2022 Apr 14. J Clin Immunol. 2022. PMID: 35420363 Free PMC article.
25 results