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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: wada t. 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
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: wada t. 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: wada t. 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
4,474 results