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Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations.
Sakata S, Tsumura M, Matsubayashi T, Karakawa S, Kimura S, Tamaura M, Okano T, Naruto T, Mizoguchi Y, Kagawa R, Nishimura S, Imai K, Le Voyer T, Casanova JL, Bustamante J, Morio T, Ohara O, Kobayashi M, Okada S. Sakata S, et al. Among authors: ohara o. Int Immunol. 2020 Sep 30;32(10):663-671. doi: 10.1093/intimm/dxaa043. Int Immunol. 2020. PMID: 32603428
Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin M syndrome.
Aghamohammadi A, Imai K, Moazzami K, Abolhassani H, Tabatabaeiyan M, Parvaneh N, Nasiri Kalmarzi R, Nakagawa N, Oshima K, Ohara O, Nonoyama S, Rezaei N. Aghamohammadi A, et al. Among authors: ohara o. J Investig Allergol Clin Immunol. 2010;20(5):442-5. J Investig Allergol Clin Immunol. 2010. PMID: 20945614 Free article.
Analysis of mutations and recombination activity in RAG-deficient patients.
Asai E, Wada T, Sakakibara Y, Toga A, Toma T, Shimizu T, Nampoothiri S, Imai K, Nonoyama S, Morio T, Muramatsu H, Kamachi Y, Ohara O, Yachie A. Asai E, et al. Among authors: ohara o. Clin Immunol. 2011 Feb;138(2):172-7. doi: 10.1016/j.clim.2010.11.005. Epub 2010 Dec 4. Clin Immunol. 2011. PMID: 21131235
Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India.
Suri D, Singh S, Rawat A, Gupta A, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O, Bilhou-Nabera C, Proust A, Ahluwalia J, Dogra S, Saikia B, Minz RW, Sehgal S. Suri D, et al. Among authors: ohara o. Asian Pac J Allergy Immunol. 2012 Mar;30(1):71-8. Asian Pac J Allergy Immunol. 2012. PMID: 22523910 Free article.
521 results