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Items: 1 to 50 of 251

1.

Conjugative Transfer of IncP-9 Catabolic Plasmids Requires a Previously Uncharacterized Gene, mpfK, Whose Homologs Are Conserved in Various MPFT-Type Plasmids.

Kishida K, Nonoyama S, Lukas T, Kawahara S, Kudo K, Nagata Y, Ohtsubo Y, Tsuda M.

Appl Environ Microbiol. 2019 Oct 11. pii: AEM.01850-19. doi: 10.1128/AEM.01850-19. [Epub ahead of print]

PMID:
31604768
2.

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.

Iwasawa S, Yanagi K, Kikuchi A, Kobayashi Y, Haginoya K, Matsumoto H, Kurosawa K, Ochiai M, Sakai Y, Fujita A, Miyake N, Niihori T, Shirota M, Funayama R, Nonoyama S, Ohga S, Kawame H, Nakayama K, Aoki Y, Matsumoto N, Kaname T, Matsubara Y, Shoji W, Kure S.

Ann Neurol. 2019 Jun;85(6):927-933. doi: 10.1002/ana.25481. Epub 2019 Apr 25.

PMID:
30945334
3.

A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency.

Yamashita M, Wakatsuki R, Kato T, Okano T, Yamanishi S, Mayumi N, Tanaka M, Ogura Y, Kanegane H, Nonoyama S, Imai K, Morio T.

Int J Hematol. 2019 May;109(5):603-611. doi: 10.1007/s12185-019-02619-9. Epub 2019 Mar 8.

PMID:
30850927
4.

Severe bullous pemphigoid in a metastatic lung cancer patient treated with pembrolizumab.

Adachi E, Honda T, Nonoyama S, Irie H, Yamamura K, Otsuka A, Kabashima K.

J Dermatol. 2019 Jul;46(7):e232-e233. doi: 10.1111/1346-8138.14813. Epub 2019 Feb 13. No abstract available.

PMID:
30758879
5.

Role of BRCA1-associated protein (BRAP) variant in childhood pulmonary arterial hypertension.

Chida-Nagai A, Shintani M, Sato H, Nakayama T, Nii M, Akagawa H, Furukawa T, Rana A, Furutani Y, Inai K, Nonoyama S, Nakanishi T.

PLoS One. 2019 Jan 31;14(1):e0211450. doi: 10.1371/journal.pone.0211450. eCollection 2019.

6.

Clinical and Immunological Characterization of ICF Syndrome in Japan.

Kamae C, Imai K, Kato T, Okano T, Honma K, Nakagawa N, Yeh TW, Noguchi E, Ohara A, Shigemura T, Takahashi H, Takakura S, Hayashi M, Honma A, Watanabe S, Shigemori T, Ohara O, Sasaki H, Kubota T, Morio T, Kanegane H, Nonoyama S.

J Clin Immunol. 2018 Nov;38(8):927-937. doi: 10.1007/s10875-018-0559-y. Epub 2018 Oct 23.

PMID:
30353301
7.

Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India.

Rawat A, Mathew B, Pandiarajan V, Jindal A, Sharma M, Suri D, Gupta A, Goel S, Karim A, Saikia B, Minz RW, Imai K, Nonoyama S, Ohara O, Giliani SC, Notarangelo LD, Chan KW, Lau YL, Singh S.

Clin Immunol. 2018 Oct;195:59-66. doi: 10.1016/j.clim.2018.07.013. Epub 2018 Jul 25.

8.

Infantile spasms in a mosaic monocentric and duplicated SMC 15 patient.

Isobe K, Matsumoto H, Tamura Y, Hashimoto J, Matsubara K, Nonoyama S.

Brain Dev. 2018 Nov;40(10):891-896. doi: 10.1016/j.braindev.2018.06.009. Epub 2018 Jun 28.

PMID:
29960745
9.

Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1.

Okano T, Imai K, Tsujita Y, Mitsuiki N, Yoshida K, Kamae C, Honma K, Mitsui-Sekinaka K, Sekinaka Y, Kato T, Hanabusa K, Endo E, Takashima T, Hiroki H, Yeh TW, Tanaka K, Nagahori M, Tsuge I, Bando Y, Iwasaki F, Shikama Y, Inoue M, Kimoto T, Moriguchi N, Yuza Y, Kaneko T, Suzuki K, Matsubara T, Maruo Y, Kunitsu T, Waragai T, Sano H, Hashimoto Y, Tasaki K, Suzuki O, Shirakawa T, Kato M, Uchiyama T, Ishimura M, Tauchi T, Yagasaki H, Jou ST, Yu HH, Kanegane H, Kracker S, Durandy A, Kojima D, Muramatsu H, Wada T, Inoue Y, Takada H, Kojima S, Ogawa S, Ohara O, Nonoyama S, Morio T.

J Allergy Clin Immunol. 2019 Jan;143(1):266-275. doi: 10.1016/j.jaci.2018.04.032. Epub 2018 May 18.

PMID:
29778502
10.

De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.

Belal H, Nakashima M, Matsumoto H, Yokochi K, Taniguchi-Ikeda M, Aoto K, Amin MB, Maruyama A, Nagase H, Mizuguchi T, Miyatake S, Miyake N, Iijima K, Nonoyama S, Matsumoto N, Saitsu H.

Hum Mutat. 2018 Aug;39(8):1070-1075. doi: 10.1002/humu.23550. Epub 2018 May 25.

PMID:
29768694
11.

Severe pertussis in a young infant due to household transmission: the needs of pertussis vaccination boosters in Japan.

Takajo D, Nonoyama S.

Clin Case Rep. 2018 Mar 8;6(5):810-812. doi: 10.1002/ccr3.1472. eCollection 2018 May.

12.

Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome.

Asano T, Okada S, Tsumura M, Yeh TW, Mitsui-Sekinaka K, Tsujita Y, Ichinose Y, Shimada A, Hashimoto K, Wada T, Imai K, Ohara O, Morio T, Nonoyama S, Kobayashi M.

Front Immunol. 2018 Apr 5;9:568. doi: 10.3389/fimmu.2018.00568. eCollection 2018.

13.

Droplet Digital PCR-Based Chimerism Analysis for Primary Immunodeficiency Diseases.

Okano T, Tsujita Y, Kanegane H, Mitsui-Sekinaka K, Tanita K, Miyamoto S, Yeh TW, Yamashita M, Terada N, Ogura Y, Takagi M, Imai K, Nonoyama S, Morio T.

J Clin Immunol. 2018 Apr;38(3):300-306. doi: 10.1007/s10875-018-0497-8. Epub 2018 Apr 18.

PMID:
29671114
14.

Human AK2 links intracellular bioenergetic redistribution to the fate of hematopoietic progenitors.

Oshima K, Saiki N, Tanaka M, Imamura H, Niwa A, Tanimura A, Nagahashi A, Hirayama A, Okita K, Hotta A, Kitayama S, Osawa M, Kaneko S, Watanabe A, Asaka I, Fujibuchi W, Imai K, Yabe H, Kamachi Y, Hara J, Kojima S, Tomita M, Soga T, Noma T, Nonoyama S, Nakahata T, Saito MK.

Biochem Biophys Res Commun. 2018 Mar 4;497(2):719-725. doi: 10.1016/j.bbrc.2018.02.139. Epub 2018 Feb 17.

15.

Allogeneic Hematopoietic Stem Cell Transplantation for Leukocyte Adhesion Deficiency.

Horikoshi Y, Umeda K, Imai K, Yabe H, Sasahara Y, Watanabe K, Ozawa Y, Hashii Y, Kurosawa H, Nonoyama S, Morio T.

J Pediatr Hematol Oncol. 2018 Mar;40(2):137-140. doi: 10.1097/MPH.0000000000001028.

PMID:
29324573
16.

TUBB3 E410K syndrome with osteoporosis and cough syncope in a patient previously diagnosed with atypical Moebius syndrome.

Nakamura Y, Matsumoto H, Zaha K, Uematsu K, Nonoyama S.

Brain Dev. 2018 Mar;40(3):233-237. doi: 10.1016/j.braindev.2017.12.006. Epub 2017 Dec 27.

PMID:
29289389
17.

A Severe Anaphylactic Reaction Associated with IgM-Class Anti-Human IgG Antibodies in a Hyper-IgM Syndrome Type 2 Patient.

Tsujita Y, Imai K, Honma K, Kamae C, Horiuchi T, Nonoyama S.

J Clin Immunol. 2018 Jan;38(1):144-148. doi: 10.1007/s10875-017-0466-7. Epub 2017 Dec 19.

PMID:
29255996
18.

A pediatric case of acute megakaryocytic leukemia with double chimeric transcripts of CBFA2T3-GLIS2 and DHH-RHEBL1.

Mitsui-Sekinaka K, Sekinaka Y, Ogura Y, Honda M, Ohyama R, Oyama C, Isobe K, Mori M, Arakawa Y, Koh K, Hanada R, Nonoyama S, Kawaguchi H.

Leuk Lymphoma. 2018 Jun;59(6):1511-1513. doi: 10.1080/10428194.2017.1387901. Epub 2017 Oct 18. No abstract available.

PMID:
29043865
19.

Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication.

Aghamohammadi A, Abolhassani H, Kutukculer N, Wassilak SG, Pallansch MA, Kluglein S, Quinn J, Sutter RW, Wang X, Sanal O, Latysheva T, Ikinciogullari A, Bernatowska E, Tuzankina IA, Costa-Carvalho BT, Franco JL, Somech R, Karakoc-Aydiner E, Singh S, Bezrodnik L, Espinosa-Rosales FJ, Shcherbina A, Lau YL, Nonoyama S, Modell F, Modell V; JMF Centers Network Investigators and Study Collaborators, Barbouche MR, McKinlay MA.

Front Immunol. 2017 Jun 13;8:685. doi: 10.3389/fimmu.2017.00685. eCollection 2017.

20.

Development of a highly resolved loop-mediated isothermal amplification method to detect the N526K ftsI mutation of β-lactamase-negative ampicillin-resistant Haemophilus influenzae.

Tamura S, Maeda T, Misawa K, Osa M, Hamamoto T, Yuki A, Imai K, Mikita K, Morichika K, Kawana A, Matsumoto H, Nonoyama S.

J Microbiol Methods. 2017 Oct;141:108-114. doi: 10.1016/j.mimet.2017.08.008. Epub 2017 Aug 12.

PMID:
28807759
21.

The Small Protein HemP Is a Transcriptional Activator for the Hemin Uptake Operon in Burkholderia multivorans ATCC 17616.

Sato T, Nonoyama S, Kimura A, Nagata Y, Ohtsubo Y, Tsuda M.

Appl Environ Microbiol. 2017 Aug 1;83(16). pii: e00479-17. doi: 10.1128/AEM.00479-17. Print 2017 Aug 15.

22.
23.

Common Variable Immunodeficiency Caused by FANC Mutations.

Sekinaka Y, Mitsuiki N, Imai K, Yabe M, Yabe H, Mitsui-Sekinaka K, Honma K, Takagi M, Arai A, Yoshida K, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Muramatsu H, Kojima S, Hira A, Takata M, Ohara O, Ogawa S, Morio T, Nonoyama S.

J Clin Immunol. 2017 Jul;37(5):434-444. doi: 10.1007/s10875-017-0396-4. Epub 2017 May 11.

PMID:
28493158
24.

Oral mass revealing Chédiak-Higashi syndrome.

Tsuji T, Uemura Y, Nakamura Y, Nonoyama S.

Int J Oral Maxillofac Surg. 2017 Sep;46(9):1158-1161. doi: 10.1016/j.ijom.2017.04.003. Epub 2017 Apr 26.

PMID:
28456452
25.

Cytomegalovirus infection- and dasatinib-induced proteinuria in Ph+ALL.

Kawaguchi H, Tamura Y, Suzuki S, Asano-Murakoshi T, Nonoyama S.

Pediatr Int. 2017 Jun;59(6):740-741. doi: 10.1111/ped.13251. Epub 2017 Apr 25. No abstract available.

PMID:
28444835
26.

Urinary Lactate Dehydrogenase Activity and Its Isozyme Patterns in Kawasaki Disease.

Kawamura Y, Takeshita S, Kanai T, Takizawa M, Yoshida Y, Tsujita Y, Nonoyama S.

Int J Pediatr. 2017;2017:4162597. doi: 10.1155/2017/4162597. Epub 2017 Feb 28.

27.

Infection Profile in Chronic Granulomatous Disease: a 23-Year Experience from a Tertiary Care Center in North India.

Rawat A, Vignesh P, Sharma A, Shandilya JK, Sharma M, Suri D, Gupta A, Gautam V, Ray P, Rudramurthy SM, Chakrabarti A, Imai K, Nonoyama S, Ohara O, Lau YL, Singh S.

J Clin Immunol. 2017 Apr;37(3):319-328. doi: 10.1007/s10875-017-0382-x. Epub 2017 Mar 22.

PMID:
28332028
28.

Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations.

Hoshino A, Okada S, Yoshida K, Nishida N, Okuno Y, Ueno H, Yamashita M, Okano T, Tsumura M, Nishimura S, Sakata S, Kobayashi M, Nakamura H, Kamizono J, Mitsui-Sekinaka K, Ichimura T, Ohga S, Nakazawa Y, Takagi M, Imai K, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Kojima S, Nonoyama S, Morio T, Kanegane H.

J Allergy Clin Immunol. 2017 Jul;140(1):223-231. doi: 10.1016/j.jaci.2016.09.029. Epub 2016 Dec 6.

PMID:
27939403
29.

Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy.

Chida A, Inai K, Sato H, Shimada E, Nishizawa T, Shimada M, Furutani M, Furutani Y, Kawamura Y, Sugimoto M, Ishihara J, Fujiwara M, Soga T, Kawana M, Fuji S, Tateno S, Kuraishi K, Kogaki S, Nishimura M, Ayusawa M, Ichida F, Yamazawa H, Matsuoka R, Nonoyama S, Nakanishi T.

Heart Vessels. 2017 Jun;32(6):700-707. doi: 10.1007/s00380-016-0920-0. Epub 2016 Nov 24.

PMID:
27885498
30.

Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint.

Cantaert T, Schickel JN, Bannock JM, Ng YS, Massad C, Delmotte FR, Yamakawa N, Glauzy S, Chamberlain N, Kinnunen T, Menard L, Lavoie A, Walter JE, Notarangelo LD, Bruneau J, Al-Herz W, Kilic SS, Ochs HD, Cunningham-Rundles C, van der Burg M, Kuijpers TW, Kracker S, Kaneko H, Sekinaka Y, Nonoyama S, Durandy A, Meffre E.

J Clin Invest. 2016 Nov 1;126(11):4289-4302. doi: 10.1172/JCI84645. Epub 2016 Oct 4.

31.

The Combined Usefulness of the Neutrophil-to-Lymphocyte and Platelet-to-Lymphocyte Ratios in Predicting Intravenous Immunoglobulin Resistance with Kawasaki Disease.

Kawamura Y, Takeshita S, Kanai T, Yoshida Y, Nonoyama S.

J Pediatr. 2016 Nov;178:281-284.e1. doi: 10.1016/j.jpeds.2016.07.035. Epub 2016 Aug 12.

PMID:
27526622
32.

DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.

Zaha K, Matsumoto H, Itoh M, Saitsu H, Kato K, Kato M, Ogata S, Murayama K, Kishita Y, Mizuno Y, Kohda M, Nishino I, Ohtake A, Okazaki Y, Matsumoto N, Nonoyama S.

Clin Genet. 2016 Nov;90(5):472-474. doi: 10.1111/cge.12805. Epub 2016 Jun 14. No abstract available.

PMID:
27301544
33.

X-linked agammaglobulinemia: Twenty years of single-center experience from North West India.

Singh S, Rawat A, Suri D, Gupta A, Garg R, Saikia B, Minz RW, Sehgal S, Chan KW, Lau YL, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O.

Ann Allergy Asthma Immunol. 2016 Oct;117(4):405-411. doi: 10.1016/j.anai.2016.07.044. Epub 2016 Sep 1.

PMID:
27593100
34.

Reply.

Bonilla FA, Chapel H, Costa-Carvalho BT, Cunningham-Rundles C, de la Morena MT, Espinosa-Rosales FJ, Hammarström L, Nonoyama S, Quinti I, Routes JM, Tang ML, Warnatz K.

J Allergy Clin Immunol Pract. 2016 Sep-Oct;4(5):1019-20. doi: 10.1016/j.jaip.2016.04.029. No abstract available.

35.

Widespread Molluscum Contagiosum with Atopic Dermatitis-like Skin Manifestations.

Chikazawa S, Takai S, Furuya A, Kato T, Ohara O, Hashimoto T, Nonoyama S, Satoh T.

Acta Derm Venereol. 2017 Feb 8;97(2):291-292. doi: 10.2340/00015555-2511. No abstract available.

36.

Successful T-cell reconstitution after unrelated cord blood transplantation in a patient with complete DiGeorge syndrome.

Kojima D, Muramatsu H, Okuno Y, Kataoka S, Murakami N, Tanahashi Y, Suzuki K, Kato T, Sekiya Y, Kawashima N, Narita A, Nishio N, Hama A, Imai K, Nonoyama S, Takahashi Y, Kojima S.

J Allergy Clin Immunol. 2016 Nov;138(5):1471-1473.e4. doi: 10.1016/j.jaci.2016.04.048. Epub 2016 Jun 16. No abstract available.

PMID:
27444175
37.

Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency.

Tsujita Y, Mitsui-Sekinaka K, Imai K, Yeh TW, Mitsuiki N, Asano T, Ohnishi H, Kato Z, Sekinaka Y, Zaha K, Kato T, Okano T, Takashima T, Kobayashi K, Kimura M, Kunitsu T, Maruo Y, Kanegane H, Takagi M, Yoshida K, Okuno Y, Muramatsu H, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Kojima S, Ogawa S, Ohara O, Okada S, Kobayashi M, Morio T, Nonoyama S.

J Allergy Clin Immunol. 2016 Dec;138(6):1672-1680.e10. doi: 10.1016/j.jaci.2016.03.055. Epub 2016 Jul 14.

PMID:
27426521
38.

Complete Genome Sequence of Sphingopyxis terrae Strain 203-1 (NBRC 111660), a Polyethylene Glycol Degrader.

Ohtsubo Y, Nonoyama S, Nagata Y, Numata M, Tsuchikane K, Hosoyama A, Yamazoe A, Tsuda M, Fujita N, Kawai F.

Genome Announc. 2016 Jun 9;4(3). pii: e00530-16. doi: 10.1128/genomeA.00530-16.

39.

Complete Genome Sequence of Sphingopyxis macrogoltabida Strain 203N (NBRC 111659), a Polyethylene Glycol Degrader.

Ohtsubo Y, Nonoyama S, Nagata Y, Numata M, Tsuchikane K, Hosoyama A, Yamazoe A, Tsuda M, Fujita N, Kawai F.

Genome Announc. 2016 Jun 9;4(3). pii: e00529-16. doi: 10.1128/genomeA.00529-16.

40.

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.

Elkaim E, Neven B, Bruneau J, Mitsui-Sekinaka K, Stanislas A, Heurtier L, Lucas CL, Matthews H, Deau MC, Sharapova S, Curtis J, Reichenbach J, Glastre C, Parry DA, Arumugakani G, McDermott E, Kilic SS, Yamashita M, Moshous D, Lamrini H, Otremba B, Gennery A, Coulter T, Quinti I, Stephan JL, Lougaris V, Brodszki N, Barlogis V, Asano T, Galicier L, Boutboul D, Nonoyama S, Cant A, Imai K, Picard C, Nejentsev S, Molina TJ, Lenardo M, Savic S, Cavazzana M, Fischer A, Durandy A, Kracker S.

J Allergy Clin Immunol. 2016 Jul;138(1):210-218.e9. doi: 10.1016/j.jaci.2016.03.022. Epub 2016 Apr 21.

41.

Complete genome sequence of Burkholderia caribensis Bcrs1W (NBRC110739), a strain co-residing with phenanthrene degrader Mycobacterium sp. EPa45.

Ohtsubo Y, Nonoyama S, Ogawa N, Kato H, Nagata Y, Tsuda M.

J Biotechnol. 2016 Jun 20;228:67-68. doi: 10.1016/j.jbiotec.2016.04.042. Epub 2016 Apr 26.

PMID:
27130496
42.

Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency: Case Report.

Takada H, Ishimura M, Takimoto T, Kohagura T, Yoshikawa H, Imaizumi M, Shichijyou K, Shimabukuro Y, Kise T, Hyakuna N, Ohara O, Nonoyama S, Hara T.

Medicine (Baltimore). 2016 Jan;95(4):e2437. doi: 10.1097/MD.0000000000002437.

43.

Neuroprotective effects of adenosine deaminase in the striatum.

Tamura R, Ohta H, Satoh Y, Nonoyama S, Nishida Y, Nibuya M.

J Cereb Blood Flow Metab. 2016 Apr;36(4):709-20. doi: 10.1177/0271678X15625077. Epub 2016 Jan 8.

44.

International Consensus Document (ICON): Common Variable Immunodeficiency Disorders.

Bonilla FA, Barlan I, Chapel H, Costa-Carvalho BT, Cunningham-Rundles C, de la Morena MT, Espinosa-Rosales FJ, Hammarström L, Nonoyama S, Quinti I, Routes JM, Tang ML, Warnatz K.

J Allergy Clin Immunol Pract. 2016 Jan-Feb;4(1):38-59. doi: 10.1016/j.jaip.2015.07.025. Epub 2015 Nov 7. No abstract available.

45.

Activation-Induced Cytidine Deaminase Expression in Human B Cell Precursors Is Essential for Central B Cell Tolerance.

Cantaert T, Schickel JN, Bannock JM, Ng YS, Massad C, Oe T, Wu R, Lavoie A, Walter JE, Notarangelo LD, Al-Herz W, Kilic SS, Ochs HD, Nonoyama S, Durandy A, Meffre E.

Immunity. 2015 Nov 17;43(5):884-95. doi: 10.1016/j.immuni.2015.10.002. Epub 2015 Nov 3.

46.

Randomized controlled comparative study on effect of training to improve lower limb motor paralysis in convalescent patients with post-stroke hemiplegia.

Kawakami K, Miyasaka H, Nonoyama S, Hayashi K, Tonogai Y, Tanino G, Wada Y, Narukawa A, Okuyama Y, Tomita Y; RE, Sonoda S.

J Phys Ther Sci. 2015 Sep;27(9):2947-50. doi: 10.1589/jpts.27.2947. Epub 2015 Sep 30.

47.

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.

Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB.

J Clin Immunol. 2015 Nov;35(8):696-726. doi: 10.1007/s10875-015-0201-1. Epub 2015 Oct 19. Review.

48.

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies.

Bousfiha A, Jeddane L, Al-Herz W, Ailal F, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan KE, Tang ML.

J Clin Immunol. 2015 Nov;35(8):727-38. doi: 10.1007/s10875-015-0198-5. Epub 2015 Oct 7. Review.

49.

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.

J Clin Immunol. 2015 Oct;35(7):610-4. doi: 10.1007/s10875-015-0202-0. Epub 2015 Sep 26.

PMID:
26407811
50.

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramírez-Alejo N, Kilic SS, El Baghdadi J, Nonoyama S, Mahdaviani SA, Ailal F, Bousfiha A, Mansouri D, Nievas E, Ma CS, Rao G, Bernasconi A, Sun Kuehn H, Niemela J, Stoddard J, Deveau P, Cobat A, El Azbaoui S, Sabri A, Lim CK, Sundin M, Avery DT, Halwani R, Grant AV, Boisson B, Bogunovic D, Itan Y, Moncada-Velez M, Martinez-Barricarte R, Migaud M, Deswarte C, Alsina L, Kotlarz D, Klein C, Muller-Fleckenstein I, Fleckenstein B, Cormier-Daire V, Rose-John S, Picard C, Hammarstrom L, Puel A, Al-Muhsen S, Abel L, Chaussabel D, Rosenzweig SD, Minegishi Y, Tangye SG, Bustamante J, Casanova JL, Boisson-Dupuis S.

J Exp Med. 2015 Sep 21;212(10):1641-62. doi: 10.1084/jem.20140280. Epub 2015 Aug 24.

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