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172 results

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Page 1
Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency.
Parvaneh N, Teimourian S, Jacomelli G, Badalzadeh M, Bertelli M, Zakharova E, Tabatabaei P, Parvaneh L, Pourakbari B, Yeganeh M, Tamizifar B, Mamishi S, Micheli V. Parvaneh N, et al. Among authors: parvaneh l. Clin Biochem. 2008 Mar;41(4-5):350-2. doi: 10.1016/j.clinbiochem.2007.11.007. Epub 2007 Nov 21. Clin Biochem. 2008. PMID: 18067860 No abstract available.
A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran.
Asna Ashari K, Aslani N, Parvaneh N, Assari R, Heidari M, Fathi M, Tahghighi Sharabian F, Ronagh A, Shahrooei M, Moafi A, Rezaei N, Ziaee V. Asna Ashari K, et al. Among authors: parvaneh n. Pediatr Rheumatol Online J. 2023 Jun 13;21(1):55. doi: 10.1186/s12969-023-00838-3. Pediatr Rheumatol Online J. 2023. PMID: 37312195 Free PMC article.
Analysis of Lymphocyte and Clinical Profile in Nonmonogenic Common Variable Immunodeficiency Patients With and Without Class Switch Recombination Defect.
Tofighi Zavareh F, Mirshafiey A, Yazdani R, Keshtkar AA, Abolhassani H, Kiaee F, Parvaneh N, Shariat M, Rezaei N, Aghamohammadi A. Tofighi Zavareh F, et al. Among authors: parvaneh n. J Investig Allergol Clin Immunol. 2023 Dec 14;33(6):474-476. doi: 10.18176/jiaci.0900. Epub 2023 Mar 3. J Investig Allergol Clin Immunol. 2023. PMID: 36866971 Free article. No abstract available.
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
Sharma M, Leung D, Momenilandi M, Jones LCW, Pacillo L, James AE, Murrell JR, Delafontaine S, Maimaris J, Vaseghi-Shanjani M, Del Bel KL, Lu HY, Chua GT, Di Cesare S, Fornes O, Liu Z, Di Matteo G, Fu MP, Amodio D, Tam IYS, Chan GSW, Sharma AA, Dalmann J, van der Lee R, Blanchard-Rohner G, Lin S, Philippot Q, Richmond PA, Lee JJ, Matthews A, Seear M, Turvey AK, Philips RL, Brown-Whitehorn TF, Gray CJ, Izumi K, Treat JR, Wood KH, Lack J, Khleborodova A, Niemela JE, Yang X, Liang R, Kui L, Wong CSM, Poon GWK, Hoischen A, van der Made CI, Yang J, Chan KW, Rosa Duque JSD, Lee PPW, Ho MHK, Chung BHY, Le HTM, Yang W, Rohani P, Fouladvand A, Rokni-Zadeh H, Changi-Ashtiani M, Miryounesi M, Puel A, Shahrooei M, Finocchi A, Rossi P, Rivalta B, Cifaldi C, Novelli A, Passarelli C, Arasi S, Bullens D, Sauer K, Claeys T, Biggs CM, Morris EC, Rosenzweig SD, O'Shea JJ, Wasserman WW, Bedford HM, van Karnebeek CDM, Palma P, Burns SO, Meyts I, Casanova JL, Lyons JJ, Parvaneh N, Nguyen ATV, Cancrini C, Heimall J, Ahmed H, McKinnon ML, Lau YL, Béziat V, Turvey SE. Sharma M, et al. Among authors: parvaneh n. J Exp Med. 2023 May 1;220(5):e20221755. doi: 10.1084/jem.20221755. Epub 2023 Mar 8. J Exp Med. 2023. PMID: 36884218 Free PMC article.
Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis.
Ogishi M, Yang R, Rodriguez R, Golec DP, Martin E, Philippot Q, Bohlen J, Pelham SJ, Arias AA, Khan T, Ata M, Al Ali F, Rozenberg F, Kong XF, Chrabieh M, Laine C, Lei WT, Han JE, Seeleuthner Y, Kaul Z, Jouanguy E, Béziat V, Youssefian L, Vahidnezhad H, Rao VK, Neven B, Fieschi C, Mansouri D, Shahrooei M, Pekcan S, Alkan G, Emiroğlu M, Tokgöz H, Uitto J, Hauck F, Bustamante J, Abel L, Keles S, Parvaneh N, Marr N, Schwartzberg PL, Latour S, Casanova JL, Boisson-Dupuis S. Ogishi M, et al. Among authors: parvaneh n. J Exp Med. 2023 Jan 2;220(1):e20220484. doi: 10.1084/jem.20220484. Epub 2022 Nov 3. J Exp Med. 2023. PMID: 36326697 Free PMC article.
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Roos D, van Leeuwen K, Madkaikar M, Kambli PM, Gupta M, Mathews V, Rawat A, Kuhns DB, Holland SM, de Boer M, Kanegane H, Parvaneh N, Lorenz M, Schwarz K, Klein C, Sherkat R, Jafari M, Wolach B, den Dunnen JT, Kuijpers TW, Köker MY. Roos D, et al. Among authors: parvaneh n. Blood Cells Mol Dis. 2023 Mar;99:102726. doi: 10.1016/j.bcmd.2023.102726. Epub 2023 Jan 20. Blood Cells Mol Dis. 2023. PMID: 36696755
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: parvaneh n. Nat Commun. 2023 Jun 22;14(1):3708. doi: 10.1038/s41467-023-39272-0. Nat Commun. 2023. PMID: 37349293 Free PMC article.
Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene.
Ghadimi S, Jamee M, Abolhassani H, Parvaneh N, Rezaei N, Delavari S, Sadeghi-Shabestari M, Tabatabaei SR, Fahimzad A, Armin S, Chavoshzadeh Z, Sharafian S. Ghadimi S, et al. Among authors: parvaneh n. Allergy Asthma Clin Immunol. 2023 Feb 21;19(1):13. doi: 10.1186/s13223-023-00768-5. Allergy Asthma Clin Immunol. 2023. PMID: 36810129 Free PMC article.
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.
Philippot Q, Ogishi M, Bohlen J, Puchan J, Arias AA, Nguyen T, Martin-Fernandez M, Conil C, Rinchai D, Momenilandi M, Mahdaviani SA, Keramatipour M, Rosain J, Yang R, Khan T, Neehus AL, Materna M, Han JE, Peel J, Mele F, Weisshaar M, Jovic S, Bastard P, Lévy R, Le Voyer T, Zhang P, Maglorius Renkilaraj MRL, Arango-Franco CA, Pelham S, Seeleuthner Y, Pochon M, Ata MMA, Al Ali F, Migaud M, Soudée C, Kochetkov T, Molitor A, Carapito R, Bahram S, Boisson B, Fieschi C, Mansouri D, Marr N, Okada S, Shahrooei M, Parvaneh N, Chavoshzadeh Z, Cobat A, Bogunovic D, Abel L, Tangye SG, Ma CS, Béziat V, Sallusto F, Boisson-Dupuis S, Bustamante J, Casanova JL, Puel A. Philippot Q, et al. Among authors: parvaneh n. Sci Immunol. 2023 Feb 17;8(80):eabq5204. doi: 10.1126/sciimmunol.abq5204. Epub 2023 Feb 10. Sci Immunol. 2023. PMID: 36763636 Free PMC article.
172 results