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Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.
Aluri J, Bach A, Kaviany S, Chiquetto Paracatu L, Kitcharoensakkul M, Walkiewicz MA, Putnam CD, Shinawi M, Saucier N, Rizzi EM, Harmon MT, Keppel MP, Ritter M, Similuk M, Kulm E, Joyce M, de Jesus AA, Goldbach-Mansky R, Lee YS, Cella M, Kendall PL, Dinauer MC, Bednarski JJ, Bemrich-Stolz C, Canna SW, Abraham SM, Demczko MM, Powell J, Jones SM, Scurlock AM, De Ravin SS, Bleesing JJ, Connelly JA, Rao VK, Schuettpelz LG, Cooper MA. Aluri J, et al. Blood. 2021 May 6;137(18):2450-2462. doi: 10.1182/blood.2020009620. Blood. 2021. PMID: 33512449 Free PMC article.
A Case of Severe Combined Immunodeficiency Missed by Newborn Screening.
Kitcharoensakkul M, Aluri J, Elsharkawi I, Steed A, Putnam CD, Swayampakula AK, Cooper MA, Bednarski JJ. Kitcharoensakkul M, et al. Among authors: aluri j. J Clin Immunol. 2021 Aug;41(6):1352-1355. doi: 10.1007/s10875-021-01020-8. Epub 2021 Mar 12. J Clin Immunol. 2021. PMID: 33712943 Free PMC article. No abstract available.
TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins.
Fejtkova M, Sukova M, Hlozkova K, Skvarova Kramarzova K, Rackova M, Jakubec D, Bakardjieva M, Bloomfield M, Klocperk A, Parackova Z, Sediva A, Aluri J, Novakova M, Kalina T, Fronkova E, Hrusak O, Malcova H, Sedlacek P, Liba Z, Kudr M, Stary J, Cooper MA, Svaton M, Kanderova V. Fejtkova M, et al. Among authors: aluri j. Am J Hematol. 2022 Mar 1;97(3):338-351. doi: 10.1002/ajh.26452. Epub 2022 Jan 28. Am J Hematol. 2022. PMID: 34981838 Free article.
STAT1 Gain-of-Function Leading to Clinical Behçet's Syndrome.
Aluri J, Schmitt EG, Du M; STAT1 Behçet’s working group; Cooper MA. Aluri J, et al. J Clin Immunol. 2023 Aug;43(6):1155-1158. doi: 10.1007/s10875-023-01515-6. Epub 2023 May 16. J Clin Immunol. 2023. PMID: 37188830 No abstract available.
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, Stoddard JL, Niemela JE, Tamankar V, Mhatre S, Bargir U, Kulkarni M, Shah N, Aggarwal A, Lashkari HP, Krishna V, Govindaraj G, Kalra M, Madkaikar M. Aluri J, et al. Front Immunol. 2019 Feb 4;10:23. doi: 10.3389/fimmu.2019.00023. eCollection 2019. Front Immunol. 2019. PMID: 30778343 Free PMC article.
GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.
Park AY, Leney-Greene M, Lynberg M, Gabrielski JQ, Xu X, Schwarz B, Zheng L, Balasubramaniyam A, Ham H, Chao B, Zhang Y, Matthews HF, Cui J, Yao Y, Kubo S, Chanchu JM, Morawski AR, Cook SA, Jiang P, Ravell JC, Cheng YH, George A, Faruqi A, Pagalilauan AM, Bergerson JRE, Ganesan S, Chauvin SD, Aluri J, Edwards-Hicks J, Bohrnsen E, Tippett C, Omar H, Xu L, Butcher GW, Pascall J, Karakoc-Aydiner E, Kiykim A, Maecker H, Tezcan İ, Esenboga S, Heredia RJ, Akata D, Tekin S, Kara A, Kuloglu Z, Unal E, Kendirli T, Dogu F, Karabiber E, Atkinson TP, Cochet C, Filhol O, Bosio CM, Davis MM, Lifton RP, Pearce EL, Daumke O, Aytekin C, Şahin GE, Aksu AÜ, Uzel G, Koneti Rao V, Sari S, Dalgıç B, Boztug K, Cagdas D, Haskologlu S, Ikinciogullari A, Schwefel D, Vilarinho S, Baris S, Ozen A, Su HC, Lenardo MJ. Park AY, et al. Among authors: aluri j. Nat Immunol. 2024 Feb;25(2):282-293. doi: 10.1038/s41590-023-01691-y. Epub 2024 Jan 3. Nat Immunol. 2024. PMID: 38172257
68 results