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422 results

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Page 1
T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.
Kuehn HS, Chang J, Yamashita M, Niemela JE, Zou C, Okuyama K, Harada J, Stoddard JL, Nunes-Santos CJ, Boast B, Baxter RM, Hsieh EWY, Garofalo M, Fleisher TA, Morio T, Taniuchi I, Dutmer CM, Rosenzweig SD. Kuehn HS, et al. Among authors: garofalo m. J Exp Med. 2021 Dec 6;218(12):e20211118. doi: 10.1084/jem.20211118. Epub 2021 Oct 25. J Exp Med. 2021. PMID: 34694366 Free PMC article.
The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome.
McDermott DH, Liu Q, Ulrick J, Kwatemaa N, Anaya-O'Brien S, Penzak SR, Filho JO, Priel DA, Kelly C, Garofalo M, Littel P, Marquesen MM, Hilligoss D, Decastro R, Fleisher TA, Kuhns DB, Malech HL, Murphy PM. McDermott DH, et al. Among authors: garofalo m. Blood. 2011 Nov 3;118(18):4957-62. doi: 10.1182/blood-2011-07-368084. Epub 2011 Sep 2. Blood. 2011. PMID: 21890643 Free PMC article. Clinical Trial.
B-cell activating factor (BAFF) is elevated in chronic granulomatous disease.
Matharu K, Zarember KA, Marciano BE, Kuhns DB, Spalding C, Garofalo M, Dimaggio T, Estwick T, Huang CY, Fink D, Priel DL, Fleisher TA, Holland SM, Malech HL, Gallin JI. Matharu K, et al. Among authors: garofalo m. Clin Immunol. 2013 Aug;148(2):258-64. doi: 10.1016/j.clim.2013.05.007. Epub 2013 May 22. Clin Immunol. 2013. PMID: 23773925 Free PMC article.
Glycosylation, hypogammaglobulinemia, and resistance to viral infections.
Sadat MA, Moir S, Chun TW, Lusso P, Kaplan G, Wolfe L, Memoli MJ, He M, Vega H, Kim LJY, Huang Y, Hussein N, Nievas E, Mitchell R, Garofalo M, Louie A, Ireland DC, Grunes C, Cimbro R, Patel V, Holzapfel G, Salahuddin D, Bristol T, Adams D, Marciano BE, Hegde M, Li Y, Calvo KR, Stoddard J, Justement JS, Jacques J, Priel DAL, Murray D, Sun P, Kuhns DB, Boerkoel CF, Chiorini JA, Di Pasquale G, Verthelyi D, Rosenzweig SD. Sadat MA, et al. Among authors: garofalo m. N Engl J Med. 2014 Apr 24;370(17):1615-1625. doi: 10.1056/NEJMoa1302846. Epub 2014 Apr 9. N Engl J Med. 2014. PMID: 24716661 Free PMC article.
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.
Kuehn HS, Niemela JE, Stoddard J, Mannurita SC, Shahin T, Goel S, Hintermeyer M, Heredia RJ, Garofalo M, Lucas L, Singh S, Tondo A, Jacobs Z, Gahl WA, Latour S, Verbsky J, Routes J, Cunningham-Rundles C, Boztug K, Gambineri E, Fleisher TA, Chandrakasan S, Rosenzweig SD. Kuehn HS, et al. Among authors: garofalo m. Blood. 2021 Jan 21;137(3):349-363. doi: 10.1182/blood.2020007292. Blood. 2021. PMID: 32845957 Free PMC article.
CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited.
Goel S, Kuehn HS, Chinen J, Niemela J, Stoddard J, Yamanaka D, Garofalo M, Samir S, Migaud M, Oikonomou V, Fleisher T, Puel A, Lionakis MS, Rosenzweig SD. Goel S, et al. Among authors: garofalo m. J Clin Immunol. 2022 Feb;42(2):336-349. doi: 10.1007/s10875-021-01173-6. Epub 2021 Nov 17. J Clin Immunol. 2022. PMID: 34791587 Free PMC article.
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.
Nunes-Santos CJ, Kuehn H, Boast B, Hwang S, Kuhns DB, Stoddard J, Niemela JE, Fink DL, Pittaluga S, Abu-Asab M, Davies JS, Barr VA, Kawai T, Delmonte OM, Bosticardo M, Garofalo M, Carneiro-Sampaio M, Somech R, Gharagozlou M, Parvaneh N, Samelson LE, Fleisher TA, Puel A, Notarangelo LD, Boisson B, Casanova JL, Derfalvi B, Rosenzweig SD. Nunes-Santos CJ, et al. Among authors: garofalo m. Nat Commun. 2023 Jun 22;14(1):3708. doi: 10.1038/s41467-023-39272-0. Nat Commun. 2023. PMID: 37349293 Free PMC article.
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism.
Hsu AP, Sowerwine KJ, Lawrence MG, Davis J, Henderson CJ, Zarember KA, Garofalo M, Gallin JI, Kuhns DB, Heller T, Milner JD, Puck JM, Freeman AF, Holland SM. Hsu AP, et al. Among authors: garofalo m. J Allergy Clin Immunol. 2013 Jun;131(6):1586-93. doi: 10.1016/j.jaci.2013.02.038. Epub 2013 Apr 25. J Allergy Clin Immunol. 2013. PMID: 23623265 Free PMC article.
422 results