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Page 1
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.
Bosticardo M, Yamazaki Y, Cowan J, Giardino G, Corsino C, Scalia G, Prencipe R, Ruffner M, Hill DA, Sakovich I, Yemialyanava I, Tam JS, Padem N, Elder ME, Sleasman JW, Perez E, Niebur H, Seroogy CM, Sharapova S, Gebbia J, Kleiner GI, Peake J, Abbott JK, Gelfand EW, Crestani E, Biggs C, Butte MJ, Hartog N, Hayward A, Chen K, Heimall J, Seeborg F, Bartnikas LM, Cooper MA, Pignata C, Bhandoola A, Notarangelo LD. Bosticardo M, et al. Among authors: crestani e. Am J Hum Genet. 2019 Sep 5;105(3):549-561. doi: 10.1016/j.ajhg.2019.07.014. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447097 Free PMC article.
The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2-associated multisystem inflammatory syndrome in children.
Benamar M, Chen Q, Chou J, Julé AM, Boudra R, Contini P, Crestani E, Lai PS, Wang M, Fong J, Rockwitz S, Lee P, Chan TMF, Altun EZ, Kepenekli E, Karakoc-Aydiner E, Ozen A, Boran P, Aygun F, Onal P, Sakalli AAK, Cokugras H, Gelmez MY, Oktelik FB, Cetin EA, Zhong Y, Taylor ML, Irby K, Halasa NB, Mack EH; Overcoming COVID-19 Investigators; Signa S, Prigione I, Gattorno M, Cotugno N, Amodio D, Geha RS, Son MB, Newburger J, Agrawal PB, Volpi S, Palma P, Kiykim A, Randolph AG, Deniz G, Baris S, De Palma R, Schmitz-Abe K, Charbonnier LM, Henderson LA, Chatila TA. Benamar M, et al. Among authors: crestani e. J Clin Invest. 2023 Jan 3;133(1):e163235. doi: 10.1172/JCI163235. J Clin Invest. 2023. PMID: 36282598 Free PMC article.
Notch1-CD22-Dependent Immune Dysregulation in the SARS-CoV2-Associated Multisystem Inflammatory Syndrome in Children.
Chatila TA, Benamar M, Chen Q, Chou J, Julé A, Boudra R, Contini P, Crestani E, Wang M, Fong J, Lai P, Rockwitz S, Lee P, Chan TMF, Altun EZ, Kepenekli E, Karakoc-Aydiner E, Ozen A, Boran P, Aygun F, Onal P, Sakalli AAK, Cokugras H, Gelmez M, Öktelik F, Cetin EA, Zhong Y, Taylor M, Irby K, Halasa N, Signa S, Prigione I, Gattorno M, Cotugno N, Amodio D, Geha R, Son MB, Newburger J, Agrawal P, Volpi S, Palma P, Kiykim A, Randolph A, Deniz G, Baris S, De Palma R, Schmitz-Abe K, Charbonnier LM, Henderson L. Chatila TA, et al. Among authors: crestani e. Res Sq [Preprint]. 2022 Apr 11:rs.3.rs-1054453. doi: 10.21203/rs.3.rs-1054453/v1. Res Sq. 2022. PMID: 35441180 Free PMC article. Preprint.
RAG1 reversion mosaicism in a patient with Omenn syndrome.
Crestani E, Choo S, Frugoni F, Lee YN, Richards S, Smart J, Notarangelo LD. Crestani E, et al. J Clin Immunol. 2014 Jul;34(5):551-4. doi: 10.1007/s10875-014-0051-2. Epub 2014 May 10. J Clin Immunol. 2014. PMID: 24817258 Free PMC article.
Atopic Dermatitis Mediates the Association Between an IL4RA Variant and Food Allergy in School-Aged Children.
Banzon TM, Kelly MS, Bartnikas LM, Sheehan WJ, Cunningham A, Harb H, Crestani E, Valeri L, Greco KF, Chatila TA, Phipatanakul W, Lai PS. Banzon TM, et al. Among authors: crestani e. J Allergy Clin Immunol Pract. 2022 Aug;10(8):2117-2124.e4. doi: 10.1016/j.jaip.2022.04.042. Epub 2022 May 16. J Allergy Clin Immunol Pract. 2022. PMID: 35589010 Free PMC article.
RAG1 deficiency may present clinically as selective IgA deficiency.
Kato T, Crestani E, Kamae C, Honma K, Yokosuka T, Ikegawa T, Nishida N, Kanegane H, Wada T, Yachie A, Ohara O, Morio T, Notarangelo LD, Imai K, Nonoyama S. Kato T, et al. Among authors: crestani e. J Clin Immunol. 2015 Apr;35(3):280-8. doi: 10.1007/s10875-015-0146-4. Epub 2015 Mar 6. J Clin Immunol. 2015. PMID: 25739914
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
Crestani E, Volpi S, Candotti F, Giliani S, Notarangelo LD, Chu J, Aldave Becerra JC, Buchbinder D, Chou J, Geha RS, Kanariou M, King A, Mazza C, Moratto D, Sokolic R, Garabedian E, Porta F, Putti MC, Wakim RH, Tsitsikov E, Pai SY, Notarangelo LD. Crestani E, et al. J Allergy Clin Immunol. 2015 Nov;136(5):1401-4.e1-3. doi: 10.1016/j.jaci.2015.08.010. Epub 2015 Sep 26. J Allergy Clin Immunol. 2015. PMID: 26409660 Free PMC article.
Piloting a multidisciplinary group education session to support caregivers of children with food protein-induced enterocolitis syndrome (FPIES).
LeBovidge J, Elverson W, Esty B, Maciag MC, Syverson EP, Grossman M, Crestani E, Queheillalt D, Okazaki Y, Perez O, Hait EJ, Bartnikas LM. LeBovidge J, et al. Among authors: crestani e. J Allergy Clin Immunol Pract. 2023 Oct;11(10):3260-3262.e1. doi: 10.1016/j.jaip.2023.06.053. Epub 2023 Jul 3. J Allergy Clin Immunol Pract. 2023. PMID: 37406809 Free PMC article. No abstract available.
Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.
Wang Y, Ma CS, Ling Y, Bousfiha A, Camcioglu Y, Jacquot S, Payne K, Crestani E, Roncagalli R, Belkadi A, Kerner G, Lorenzo L, Deswarte C, Chrabieh M, Patin E, Vincent QB, Müller-Fleckenstein I, Fleckenstein B, Ailal F, Quintana-Murci L, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Puel A, Bustamante J, Boisson-Dupuis S, Malissen M, Malissen B, Abel L, Hovnanian A, Notarangelo LD, Jouanguy E, Tangye SG, Béziat V, Casanova JL. Wang Y, et al. Among authors: crestani e. J Exp Med. 2016 Oct 17;213(11):2413-2435. doi: 10.1084/jem.20160576. Epub 2016 Sep 19. J Exp Med. 2016. PMID: 27647349 Free PMC article.
39 results