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Novel BTK mutation in X-linked agammaglobulinemia: Report of a 17-year-old male.
Shaka Z, Mojtabavi H, Rayzan E, Zoghi S, Shahkarami S, Raul JH, Sedighi I, Boztug K, Rezaei N. Shaka Z, et al. Among authors: rezaei n. Allergol Immunopathol (Madr). 2021 Mar 1;49(2):80-83. doi: 10.15586/aei.v49i2.62. eCollection 2021. Allergol Immunopathol (Madr). 2021. PMID: 33641298
X-linked agammaglobulinemia: a survey of 33 Iranian patients.
Moin M, Aghamohammadi A, Farhoudi A, Pourpak Z, Rezaei N, Movahedi M, Gharagozlou M, Ghazi BM, Zahed A, Abolmaali K, Mahmoudi M, Emami L, Bashashati M. Moin M, et al. Among authors: rezaei n. Immunol Invest. 2004 Feb;33(1):81-93. doi: 10.1081/imm-120027687. Immunol Invest. 2004. PMID: 15015835
Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia.
Aghamohammadi A, Fiorini M, Moin M, Parvaneh N, Teimourian S, Yeganeh M, Goffi F, Kanegane H, Amirzargar AA, Pourpak Z, Rezaei N, Salavati A, Pouladi N, Abdollahzade S, Notarangelo LD, Miyawaki T, Plebani A. Aghamohammadi A, et al. Among authors: rezaei n. Int Arch Allergy Immunol. 2006;141(4):408-14. doi: 10.1159/000095469. Epub 2006 Aug 30. Int Arch Allergy Immunol. 2006. PMID: 16943681
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schäffer AA, Rathinam C, Boztug K, Schwinzer B, Rezaei N, Bohn G, Melin M, Carlsson G, Fadeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Grimbacher B, Welte K. Klein C, et al. Among authors: rezaei n. Nat Genet. 2007 Jan;39(1):86-92. doi: 10.1038/ng1940. Epub 2006 Dec 24. Nat Genet. 2007. PMID: 17187068
A syndrome with congenital neutropenia and mutations in G6PC3.
Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanné-Chantelot C, Rezaei N, Mönkemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C. Boztug K, et al. Among authors: rezaei n. N Engl J Med. 2009 Jan 1;360(1):32-43. doi: 10.1056/NEJMoa0805051. N Engl J Med. 2009. PMID: 19118303 Free PMC article.
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.
Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C. Boztug K, et al. Among authors: rezaei n. J Pediatr. 2012 Apr;160(4):679-683.e2. doi: 10.1016/j.jpeds.2011.09.019. Epub 2011 Nov 1. J Pediatr. 2012. PMID: 22050868
1,578 results