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Page 1
B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice.
Recher M, Burns SO, de la Fuente MA, Volpi S, Dahlberg C, Walter JE, Moffitt K, Mathew D, Honke N, Lang PA, Patrizi L, Falet H, Keszei M, Mizui M, Csizmadia E, Candotti F, Nadeau K, Bouma G, Delmonte OM, Frugoni F, Fomin AB, Buchbinder D, Lundequist EM, Massaad MJ, Tsokos GC, Hartwig J, Manis J, Terhorst C, Geha RS, Snapper S, Lang KS, Malley R, Westerberg L, Thrasher AJ, Notarangelo LD. Recher M, et al. Among authors: delmonte om. Blood. 2012 Mar 22;119(12):2819-28. doi: 10.1182/blood-2011-09-379412. Epub 2012 Feb 1. Blood. 2012. PMID: 22302739 Free PMC article.
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.
Materna M, Delmonte OM, Bosticardo M, Momenilandi M, Conrey PE, Charmeteau-De Muylder B, Bravetti C, Bellworthy R, Cederholm A, Staels F, Ganoza CA, Darko S, Sayed S, Le Floc'h C, Ogishi M, Rinchai D, Guenoun A, Bolze A, Khan T, Gervais A, Krüger R, Völler M, Palterer B, Sadeghi-Shabestari M, Langlois de Septenville A, Schramm CA, Shah S, Tello-Cajiao JJ, Pala F, Amini K, Campos JS, Lima NS, Eriksson D, Lévy R, Seeleuthner Y, Jyonouchi S, Ata M, Al Ali F, Stittrich A, Deswarte C, Pereira A, Mégret J, Le Voyer T, Bastard P, Berteloot L, Dussiot M, Vladikine N, Cardenas PP, Jouanguy E, Alqahtani M, Hasan A, Thanaraj TA, Rosain J, Al Qureshah F, Sabato V, Alyanakian MA, Leruez-Ville M, Rozenberg F, Haddad E, Regueiro JR, Toribio ML, Kelsen JR, Salehi M, Nasiri S, Torabizadeh M, Rokni-Zadeh H, Changi-Ashtiani M, Vatandoost N, Moravej H, Akrami SM, Mazloomrezaei M, Cobat A, Meyts I, Toyofuku E, Nishimura M, Moriya K, Mizukami T, Imai K, Abel L, Malissen B, Al-Mulla F, Alkuraya FS, Parvaneh N, von Bernuth H, Beetz C, Davi F, Douek DC, Cheynier R, Langlais D, Landegren N, Marr N, Morio T, Shahrooei M, Schrijvers R, Henrickson SE, Luche H, Notarangelo LD, Casanova JL, Béziat V. Materna M, et al. Among authors: delmonte om. Science. 2024 Mar;383(6686):eadh4059. doi: 10.1126/science.adh4059. Epub 2024 Mar 1. Science. 2024. PMID: 38422122 Free PMC article.
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP.
Lanzi G, Moratto D, Vairo D, Masneri S, Delmonte O, Paganini T, Parolini S, Tabellini G, Mazza C, Savoldi G, Montin D, Martino S, Tovo P, Pessach IM, Massaad MJ, Ramesh N, Porta F, Plebani A, Notarangelo LD, Geha RS, Giliani S. Lanzi G, et al. J Exp Med. 2012 Jan 16;209(1):29-34. doi: 10.1084/jem.20110896. Epub 2012 Jan 9. J Exp Med. 2012. PMID: 22231303 Free PMC article.
Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype.
Recher M, Karjalainen-Lindsberg ML, Lindlöf M, Söderlund-Venermo M, Lanzi G, Väisänen E, Kumar A, Sadeghi M, Berger CT, Alitalo T, Anttila P, Kolehmainen M, Franssila R, Chen T, Siitonen S, Delmonte OM, Walter JE, Pessach I, Hess C, Simpson MA, Navarini AA, Giliani S, Hedman K, Seppänen M, Notarangelo LD. Recher M, et al. Among authors: delmonte om. J Allergy Clin Immunol. 2014 May;133(5):1462-5, 1465.e1-5. doi: 10.1016/j.jaci.2013.10.052. Epub 2013 Dec 24. J Allergy Clin Immunol. 2014. PMID: 24373355 No abstract available.
Abnormalities of T-cell receptor repertoire in CD4+ regulatory and conventional T cells in patients with RAG mutations: Implications for autoimmunity.
Rowe JH, Stadinski BD, Henderson LA, Ott de Bruin L, Delmonte O, Lee YN, de la Morena MT, Goyal RK, Hayward A, Huang CH, Kanariou M, King A, Kuijpers TW, Soh JY, Neven B, Walter JE, Huseby ES, Notarangelo LD. Rowe JH, et al. J Allergy Clin Immunol. 2017 Dec;140(6):1739-1743.e7. doi: 10.1016/j.jaci.2017.08.001. Epub 2017 Aug 31. J Allergy Clin Immunol. 2017. PMID: 28864286 Free PMC article. No abstract available.
Patients with CD3G mutations reveal a role for human CD3γ in Treg diversity and suppressive function.
Rowe JH, Delmonte OM, Keles S, Stadinski BD, Dobbs AK, Henderson LA, Yamazaki Y, Allende LM, Bonilla FA, Gonzalez-Granado LI, Celikbilek Celik S, Guner SN, Kapakli H, Yee C, Pai SY, Huseby ES, Reisli I, Regueiro JR, Notarangelo LD. Rowe JH, et al. Among authors: delmonte om. Blood. 2018 May 24;131(21):2335-2344. doi: 10.1182/blood-2018-02-835561. Epub 2018 Apr 13. Blood. 2018. PMID: 29653965 Free PMC article.
RAG Deficiency: Two Genes, Many Diseases.
Delmonte OM, Schuetz C, Notarangelo LD. Delmonte OM, et al. J Clin Immunol. 2018 Aug;38(6):646-655. doi: 10.1007/s10875-018-0537-4. Epub 2018 Jul 25. J Clin Immunol. 2018. PMID: 30046960 Free PMC article. Review.
93 results