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Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
Kuehn HS, Sakovich IS, Niemela JE, Gil Silva AA, Stoddard JL, Polyakova EA, Esteve Sole A, Aleshkevich SN, Uglova TA, Belevtsev MV, Vertelko VR, Shman TV, Kupchinskaya AN, Walter JE, Fleisher TA, Notarangelo LD, Peng XP, Delmonte OM, Sharapova SO, Rosenzweig SD. Kuehn HS, et al. Among authors: rosenzweig sd. J Clin Invest. 2024 Feb 1;134(3):e172573. doi: 10.1172/JCI172573. J Clin Invest. 2024. PMID: 38015619 Free PMC article.
Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease.
Bauman BM, Dorjbal B, Pittaluga S, Zhang Y, Niemela JE, Stoddard JL, Rosenzweig SD, Anderson R, Guilcher GMT, Auer I, Perrier R, Campbell M, Bhandal SK, Alba C, Sukumar G, Dalgard CL, Schelotto M, Wright NAM, Su HC, Snow AL. Bauman BM, et al. Among authors: rosenzweig sd. Clin Immunol. 2023 Oct;255:109732. doi: 10.1016/j.clim.2023.109732. Epub 2023 Aug 9. Clin Immunol. 2023. PMID: 37562721
Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).
Papendorf JJ, Ebstein F, Alehashemi S, Piotto DGP, Kozlova A, Terreri MT, Shcherbina A, Rastegar A, Rodrigues M, Pereira R, Park S, Lin B, Uss K, Möller S, da Silva Pina AF, Sztajnbok F, Torreggiani S, Niemela J, Stoddard J, Rosenzweig SD, Oler AJ, McNinch C, de Guzman MM, Fonseca A, Micheloni N, Fraga MM, Perazzio SF, Goldbach-Mansky R, de Jesus AA, Krüger E. Papendorf JJ, et al. Among authors: rosenzweig sd. Front Immunol. 2023 Aug 4;14:1190104. doi: 10.3389/fimmu.2023.1190104. eCollection 2023. Front Immunol. 2023. PMID: 37600812 Free PMC article.
Mulibrey nanism and immunological complications: a comprehensive case report and literature review.
Gazzin A, Pala F, Bosticardo M, Niemela J, Stoddard J, Biasin E, Quarello P, Carli D, Ferroni F, Delmonte OM, Montin D, Rosenzweig SD, Licciardi F, Notarangelo LD. Gazzin A, et al. Among authors: rosenzweig sd. Front Immunol. 2023 Dec 5;14:1303251. doi: 10.3389/fimmu.2023.1303251. eCollection 2023. Front Immunol. 2023. PMID: 38116000 Free PMC article. Review.
A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome.
McDermott DH, Velez D, Cho E, Cowen EW, DiGiovanna JJ, Pastrana DV, Buck CB, Calvo KR, Gardner PJ, Rosenzweig SD, Stratton P, Merideth MA, Kim HJ, Brewer C, Katz JD, Kuhns DB, Malech HL, Follmann D, Fay MP, Murphy PM. McDermott DH, et al. Among authors: rosenzweig sd. J Clin Invest. 2023 Oct 2;133(19):e164918. doi: 10.1172/JCI164918. J Clin Invest. 2023. PMID: 37561579 Free PMC article. Clinical Trial.
Natural history study of patients with familial platelet disorder with associated myeloid malignancy.
Cunningham L, Merguerian M, Calvo KR, Davis J, Deuitch NT, Dulau-Florea A, Patel N, Yu K, Sacco K, Bhattacharya S, Passi M, Ozkaya N, De Leon S, Chong S, Craft K, Diemer J, Bresciani E, O'Brien K, Andrews EJ, Park N, Hathaway L, Cowen EW, Heller T, Ryan K, Barochia A, Nghiem K, Niemela J, Rosenzweig S, Young DJ, Frischmeyer-Guerrerio PA, Braylan R, Liu PP. Cunningham L, et al. Blood. 2023 Dec 21;142(25):2146-2158. doi: 10.1182/blood.2023019746. Blood. 2023. PMID: 37738626
Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome.
de Jesus AA, Chen G, Yang D, Brdicka T, Ruth NM, Bennin D, Cebecauerova D, Malcova H, Freeman H, Martin N, Svojgr K, Passo MH, Bhuyan F, Alehashemi S, Rastegar AT, Uss K, Kardava L, Marrero B, Duric I, Omoyinmi E, Peldova P, Lee CR, Kleiner DE, Hadigan CM, Hewitt SM, Pittaluga S, Carmona-Rivera C, Calvo KR, Shah N, Balascakova M, Fink DL, Kotalova R, Parackova Z, Peterkova L, Kuzilkova D, Campr V, Sramkova L, Biancotto A, Brooks SR, Manes C, Meffre E, Harper RL, Kuehn H, Kaplan MJ, Brogan P, Rosenzweig SD, Merchant M, Deng Z, Huttenlocher A, Moir SL, Kuhns DB, Boehm M, Skvarova Kramarzova K, Goldbach-Mansky R. de Jesus AA, et al. Among authors: rosenzweig sd. Nat Commun. 2023 Mar 17;14(1):1502. doi: 10.1038/s41467-023-36941-y. Nat Commun. 2023. PMID: 36932076 Free PMC article.
Non-selective dampening of the host immune response after hepatitis C clearance and its association with circulating chemokine and endotoxin levels.
Quinn G, Ali RO, Zhang GY, Hill K, Townsend E, Umarova R, Chakraborty M, Ahmad MF, Gewirtz M, Haddad J, Rosenzweig S, Rampertaap S, Schoenfeld M, Yang S, Koh C, Levy E, Kleiner DE, Etzion O, Heller T. Quinn G, et al. Liver Int. 2023 Dec;43(12):2701-2712. doi: 10.1111/liv.15737. Epub 2023 Sep 26. Liver Int. 2023. PMID: 37752797
Longitudinal multi-omics analyses of the gut-liver axis reveals metabolic dysregulation in hepatitis C infection and cirrhosis.
Ali RO, Quinn GM, Umarova R, Haddad JA, Zhang GY, Townsend EC, Scheuing L, Hill KL, Gewirtz M, Rampertaap S, Rosenzweig SD, Remaley AT, Han JM, Periwal V, Cai H, Walter PJ, Koh C, Levy EB, Kleiner DE, Etzion O, Heller T. Ali RO, et al. Among authors: rosenzweig sd. Nat Microbiol. 2023 Jan;8(1):12-27. doi: 10.1038/s41564-022-01273-y. Epub 2022 Dec 15. Nat Microbiol. 2023. PMID: 36522461
170 results