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Page 1
A Novel CEBPE Variant Causes Severe Infections and Profound Neutropenia.
Banday AZ, Kaur A, Akagi T, Bhattarai D, Muraoka M, Dev D, Das J, Sachdeva MUS, Karmakar I, Arora K, Kaur G, Pandiarajan V, Jindal AK, Wada T, Koeffler HP, Suri D, Ahluwalia J, Kanegane H, Bhatia P, Rawat A, Singh S. Banday AZ, et al. Among authors: kanegane h. J Clin Immunol. 2022 Oct;42(7):1434-1450. doi: 10.1007/s10875-022-01304-7. Epub 2022 Jun 20. J Clin Immunol. 2022. PMID: 35726044
Complete arrest from pro- to pre-B cells in a case of B cell-negative severe combined immunodeficiency (SCID) without recombinase activating gene (RAG) mutations.
Agematsu K, Nagumo H, Hokibara S, Mori T, Wada T, Yachie A, Kanegane H, Miyawaki T, Sugita K, Karasuyama H, Komiyama A. Agematsu K, et al. Among authors: kanegane h. Clin Exp Immunol. 2001 Jun;124(3):461-4. doi: 10.1046/j.1365-2249.2001.01553.x. Clin Exp Immunol. 2001. PMID: 11472408 Free PMC article.
Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.
Nakagawa N, Imai K, Kanegane H, Sato H, Yamada M, Kondoh K, Okada S, Kobayashi M, Agematsu K, Takada H, Mitsuiki N, Oshima K, Ohara O, Suri D, Rawat A, Singh S, Pan-Hammarström Q, Hammarström L, Reichenbach J, Seger R, Ariga T, Hara T, Miyawaki T, Nonoyama S. Nakagawa N, et al. Among authors: kanegane h. J Allergy Clin Immunol. 2011 Jul;128(1):223-225.e2. doi: 10.1016/j.jaci.2011.01.052. Epub 2011 Mar 11. J Allergy Clin Immunol. 2011. PMID: 21397315 No abstract available.
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: kanegane h. 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
A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.
Yang X, Hoshino A, Taga T, Kunitsu T, Ikeda Y, Yasumi T, Yoshida K, Wada T, Miyake K, Kubota T, Okuno Y, Muramatsu H, Adachi Y, Miyano S, Ogawa S, Kojima S, Kanegane H. Yang X, et al. Among authors: kanegane h. J Clin Immunol. 2015 Apr;35(3):244-8. doi: 10.1007/s10875-015-0144-6. Epub 2015 Mar 7. J Clin Immunol. 2015. PMID: 25744037
Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism.
Okuno Y, Hoshino A, Muramatsu H, Kawashima N, Wang X, Yoshida K, Wada T, Gunji M, Toma T, Kato T, Shiraishi Y, Iwata A, Hori T, Kitoh T, Chiba K, Tanaka H, Sanada M, Takahashi Y, Nonoyama S, Ito M, Miyano S, Ogawa S, Kojima S, Kanegane H. Okuno Y, et al. Among authors: kanegane h. J Clin Immunol. 2015 Oct;35(7):610-4. doi: 10.1007/s10875-015-0202-0. Epub 2015 Sep 26. J Clin Immunol. 2015. PMID: 26407811
Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan.
Ono S, Okano T, Hoshino A, Yanagimachi M, Hamamoto K, Nakazawa Y, Imamura T, Onuma M, Niizuma H, Sasahara Y, Tsujimoto H, Wada T, Kunisaki R, Takagi M, Imai K, Morio T, Kanegane H. Ono S, et al. Among authors: kanegane h. J Clin Immunol. 2017 Jan;37(1):85-91. doi: 10.1007/s10875-016-0348-4. Epub 2016 Nov 4. J Clin Immunol. 2017. PMID: 27815752 Free PMC article.
416 results