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Items: 1 to 20 of 132

1.

Expanding clinical spectrum of autosomal dominant pyrin-associated autoinflammatory disorder caused by the heterozygous MEFV p.Thr577Asn variant.

Nakaseko H, Iwata N, Izawa K, Shibata H, Yasuoka R, Kohagura T, Abe N, Kawabe S, Nishikomori R.

Rheumatology (Oxford). 2018 Sep 8. doi: 10.1093/rheumatology/key283. [Epub ahead of print] No abstract available.

PMID:
30203097
2.

Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3.

Hiejima E, Shibata H, Yasumi T, Shimodera S, Hori M, Izawa K, Kawai T, Matsuoka M, Kojima Y, Ohara A, Nishikomori R, Ohara O, Heike T.

Clin Immunol. 2018 Jun;191:63-66. doi: 10.1016/j.clim.2018.03.012. Epub 2018 Mar 26.

PMID:
29596912
3.

Influence of post-transplant mucosal-associated invariant T cell recovery on the development of acute graft-versus-host disease in allogeneic bone marrow transplantation.

Kawaguchi K, Umeda K, Hiejima E, Iwai A, Mikami M, Nodomi S, Saida S, Kato I, Hiramatsu H, Yasumi T, Nishikomori R, Kondo T, Takaori-Kondo A, Heike T, Adachi S.

Int J Hematol. 2018 Jul;108(1):66-75. doi: 10.1007/s12185-018-2442-2. Epub 2018 Mar 26.

PMID:
29582333
4.

Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis.

Shibata H, Yasumi T, Shimodera S, Hiejima E, Izawa K, Kawai T, Shirakawa R, Wada T, Nishikomori R, Horiuchi H, Ohara O, Ishii E, Heike T.

Blood. 2018 May 3;131(18):2016-2025. doi: 10.1182/blood-2017-10-812503. Epub 2018 Mar 16.

PMID:
29549174
5.

[Pediatric acute lymphoblastic leukemia presenting with bone and joint pain].

Kubota H, Saida S, Kouzuki K, Hamabata T, Daifu T, Kato I, Umeda K, Hiramatsu H, Nishikomori R, Heike T, Okamoto T, Adachi S.

Rinsho Ketsueki. 2018;59(2):167-173. doi: 10.11406/rinketsu.59.167. Japanese.

PMID:
29515068
6.

National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.

Tanaka T, Yoshioka K, Nishikomori R, Sakai H, Abe J, Yamashita Y, Hiramoto R, Morimoto A, Ishii E, Arakawa H, Kaneko U, Ohshima Y, Okamoto N, Ohara O, Hata I, Shigematsu Y, Kawai T, Yasumi T, Heike T.

Mod Rheumatol. 2018 Mar 2:1-7. doi: 10.1080/14397595.2018.1442639. [Epub ahead of print]

PMID:
29451047
7.

Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders.

Kadowaki T, Ohnishi H, Kawamoto N, Hori T, Nishimura K, Kobayashi C, Shigemura T, Ogata S, Inoue Y, Kawai T, Hiejima E, Takagi M, Imai K, Nishikomori R, Ito S, Heike T, Ohara O, Morio T, Fukao T, Kanegane H.

J Allergy Clin Immunol. 2018 Apr;141(4):1485-1488.e11. doi: 10.1016/j.jaci.2017.10.039. Epub 2017 Dec 11. No abstract available.

PMID:
29241730
8.

Live-attenuated vaccines in a cryopyrin-associated periodic syndrome patient receiving canakinumab treatment during infancy.

Watanabe M, Nishikomori R, Fujimaki Y, Heike T, Ohara A, Saji T.

Clin Case Rep. 2017 Sep 12;5(11):1750-1755. doi: 10.1002/ccr3.1149. eCollection 2017 Nov.

9.

Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report.

Hiejima E, Yasumi T, Nakase H, Matsuura M, Honzawa Y, Higuchi H, Okafuji I, Yorifuji T, Tanaka T, Izawa K, Kawai T, Nishikomori R, Heike T.

Medicine (Baltimore). 2017 Nov;96(46):e8601. doi: 10.1097/MD.0000000000008601.

10.

Autoinflammatory phenotypes in Aicardi-Goutières syndrome with interferon upregulation and serological autoimmune features.

Sugawara Y, Imai K, Kashimada A, Moriyama K, Baba S, Nishikomori R, Motegi M, Takeuchi Y, Morio T.

J Allergy Clin Immunol. 2018 Mar;141(3):1135-1138. doi: 10.1016/j.jaci.2017.10.019. Epub 2017 Nov 11. No abstract available.

PMID:
29132962
11.

A sporadic case of granulomatous disease negative for NOD2 mutations and mimicking Blau syndrome.

Oda F, Murakami M, Hanakawa Y, Tohyama M, Nakano N, Nishikomori R, Kambe N, Sayama K.

Clin Exp Dermatol. 2018 Jan;43(1):57-58. doi: 10.1111/ced.13217. Epub 2017 Oct 30. No abstract available.

PMID:
29082556
12.

Fruit intake reduces the onset of respiratory allergic symptoms in schoolchildren.

Kusunoki T, Takeuchi J, Morimoto T, Sakuma M, Yasumi T, Nishikomori R, Higashi A, Heike T.

Pediatr Allergy Immunol. 2017 Dec;28(8):793-800. doi: 10.1111/pai.12817. Epub 2017 Nov 2.

PMID:
29024078
13.

Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

Nakayama M, Oda H, Nakagawa K, Yasumi T, Kawai T, Izawa K, Nishikomori R, Heike T, Ohara O.

Biochem Biophys Rep. 2016 Dec 23;9:146-152. doi: 10.1016/j.bbrep.2016.12.002. eCollection 2017 Mar.

14.

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

Lasigliè D, Mensa-Vilaro A, Ferrera D, Caorsi R, Penco F, Santamaria G, Di Duca M, Amico G, Nakagawa K, Antonini F, Tommasini A, Consolini R, Insalaco A, Cattalini M, Obici L, Gallizzi R, Santarelli F, Del Zotto G, Severino M, Rubartelli A, Ravazzolo R, Martini A, Ceccherini I, Nishikomori R, Gattorno M, Arostegui JI, Borghini S.

J Rheumatol. 2017 Nov;44(11):1667-1673. doi: 10.3899/jrheum.170041. Epub 2017 Sep 15.

PMID:
28916543
15.

A Case with Spondyloenchondrodysplasia Treated with Growth Hormone.

Utsumi T, Okada S, Izawa K, Honda Y, Nishimura G, Nishikomori R, Okano R, Kobayashi M.

Front Endocrinol (Lausanne). 2017 Jul 10;8:157. doi: 10.3389/fendo.2017.00157. eCollection 2017.

16.

Flow cytometry-based diagnosis of primary immunodeficiency diseases.

Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T.

Allergol Int. 2018 Jan;67(1):43-54. doi: 10.1016/j.alit.2017.06.003. Epub 2017 Jul 3. Review.

17.

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.

Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, Nishikomori R, Ito E, Pellier I, Dupuis Girod S, Rosain J, Sasaki S, Chandrakasan S, Pachlopnik Schmid J, Okano T, Colin E, Olaya-Vargas A, Yamazaki-Nakashimada M, Qasim W, Espinosa Padilla S, Jones A, Krol A, Cole N, Jolles S, Bleesing J, Vraetz T, Gennery AR, Abinun M, Güngör T, Costa-Carvalho B, Condino-Neto A, Veys P, Holland SM, Uzel G, Moshous D, Neven B, Blanche S, Ehl S, Döffinger R, Patel SY, Puel A, Bustamante J, Gelfand EW, Casanova JL, Orange JS, Picard C.

Blood. 2017 Sep 21;130(12):1456-1467. doi: 10.1182/blood-2017-03-771600. Epub 2017 Jul 5.

18.

Fever of unknown origin with rashes in early infancy is indicative of adenosine deaminase type 2 deficiency.

Nihira H, Nakagawa K, Izawa K, Kawai T, Yasumi T, Nishikomori R, Nambu M, Miyagawa-Hayashino A, Nomura T, Kabashima K, Ito M, Iwaki-Egawa S, Sasahara Y, Nakayama M, Heike T.

Scand J Rheumatol. 2018 Mar;47(2):170-172. doi: 10.1080/03009742.2017.1324912. Epub 2017 Jun 30. No abstract available.

PMID:
28665179
19.

Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.

Petersheim D, Massaad MJ, Lee S, Scarselli A, Cancrini C, Moriya K, Sasahara Y, Lankester AC, Dorsey M, Di Giovanni D, Bezrodnik L, Ohnishi H, Nishikomori R, Tanita K, Kanegane H, Morio T, Gelfand EW, Jain A, Secord E, Picard C, Casanova JL, Albert MH, Torgerson TR, Geha RS.

J Allergy Clin Immunol. 2018 Mar;141(3):1060-1073.e3. doi: 10.1016/j.jaci.2017.05.030. Epub 2017 Jun 17.

PMID:
28629746
20.

A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis.

Yamashita Y, Matsumoto S, Hiramoto R, Komori I, Tanaka T, Nishikomori R, Heike T, Umetsu S, Inui A.

Nihon Rinsho Meneki Gakkai Kaishi. 2017;40(2):131-137. doi: 10.2177/jsci.40.131. Japanese.

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