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Items: 1 to 20 of 90

1.

Omenn Syndrome and DNA recombination defects.

Yachie A.

Nihon Rinsho Meneki Gakkai Kaishi. 2017;40(3):179-189. doi: 10.2177/jsci.40.179.

2.

Congenital erythroderma should be considered as an urgent warning sign of immunodeficiency: a case of Omenn syndrome.

Cuperus E, Montfrans JMV, Gijn MEV, Bastiaens MT, Willigen MM, Leguit RJ, Brijnzeel-Koomen CA, RusseL IM, Pasmans SG.

Eur J Dermatol. 2017 Jun 1;27(3):313-314. doi: 10.1684/ejd.2017.2992. No abstract available.

PMID:
28414192
3.

Omenn Syndrome Presenting with Striking Erythroderma and Extreme Lymphocytosis in a Newborn.

Zafar R, Ver Heul A, Beigelman A, Bednarski JJ, Bayliss SJ, Dehner LP, Rosman IS, Coughlin CC.

Pediatr Dermatol. 2017 Jan;34(1):e37-e39. doi: 10.1111/pde.13023. Epub 2016 Nov 12.

PMID:
27862277
4.

Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis.

Ulusoy E, Karaca NE, Azarsiz E, Berdeli A, Aksu G, Kutukculer N.

J Clin Med Res. 2016 May;8(5):379-84. doi: 10.14740/jocmr2316w. Epub 2016 Mar 20.

5.

[Analysis of genetic mutations and pathogenesis for two children with Omenn syndrome].

Xu Y, Chen Y, Chen H, Zeng H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Feb;33(1):38-43. doi: 10.3760/cma.j.issn.1003-9406.2016.01.010. Chinese.

PMID:
26829731
6.

Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine).

Sharapova SO, Guryanova IE, Pashchenko OE, Kondratenko IV, Kostyuchenko LV, Rodina YA, Varlamova TV, Bondarenko AV, Chernyshova LI, Gyseva MN, Belevtsev MV, Minakovskaya NV, Aleinikova OV.

J Clin Immunol. 2016 Jan;36(1):46-55. doi: 10.1007/s10875-015-0216-7. Epub 2015 Nov 23.

PMID:
26596586
7.

Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome.

Bai X, Liu J, Zhang Z, Liu C, Zhang Y, Tang W, Dai R, Wu J, Tang X, Zhang Y, Ding Y, Jiang L, Zhao X.

Immunol Res. 2016 Apr;64(2):497-507. doi: 10.1007/s12026-015-8723-4.

PMID:
26476733
8.

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.

Fuchs S, Rensing-Ehl A, Pannicke U, Lorenz MR, Fisch P, Jeelall Y, Rohr J, Speckmann C, Vraetz T, Farmand S, Schmitt-Graeff A, Krüger M, Strahm B, Henneke P, Enders A, Horikawa K, Goodnow C, Schwarz K, Ehl S.

Blood. 2015 Oct 1;126(14):1658-69. doi: 10.1182/blood-2015-03-631374. Epub 2015 Aug 19.

9.

Compound heterozygous mutation of Rag1 leading to Omenn syndrome.

Matthews AG, Briggs CE, Yamanaka K, Small TN, Mooster JL, Bonilla FA, Oettinger MA, Butte MJ.

PLoS One. 2015 Apr 7;10(4):e0121489. doi: 10.1371/journal.pone.0121489. eCollection 2015.

10.

Cyclosporin treatment improves skin findings in omenn syndrome.

Caglayan Sozmen S, Isik S, Arikan Ayyildiz Z, Yildiz K, Cakır Y, Ozer E, Asilsoy S, Uzuner N, Karaman O, Anal O.

Pediatr Dermatol. 2015 Mar-Apr;32(2):e54-7. doi: 10.1111/pde.12522. Epub 2015 Feb 26.

PMID:
25727345
11.

RAG1 reversion mosaicism in a patient with Omenn syndrome.

Crestani E, Choo S, Frugoni F, Lee YN, Richards S, Smart J, Notarangelo LD.

J Clin Immunol. 2014 Jul;34(5):551-4. doi: 10.1007/s10875-014-0051-2. Epub 2014 May 10.

12.

Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias.

Zago CA, Jacob CM, de Albuquerque Diniz EM, Lovisolo SM, Zerbini MC, Dorna M, Watanabe L, Fernandes JF, Rocha V, Oliveira JB, Carneiro-Sampaio M.

Hum Immunol. 2014 Jul;75(7):662-6. doi: 10.1016/j.humimm.2014.04.006. Epub 2014 Apr 20.

PMID:
24759676
13.

Omenn syndrome: two case reports.

Siala N, Azzabi O, Kebaier H, Mrad R, Rebah O, Barbouche R, Bejaoui M, Halioui S, Maherzi A.

Acta Dermatovenerol Croat. 2013;21(4):259-62.

PMID:
24476615
14.

Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.

Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR, Griffith LM, Kohn DB, O'Reilly RJ, Fleisher TA, Pai SY, Martinez CA, Buckley RH, Cowan MJ.

J Allergy Clin Immunol. 2014 Apr;133(4):1092-8. doi: 10.1016/j.jaci.2013.09.044. Epub 2013 Nov 28.

15.

[Clinical phenotype and gene diagnostic analysis of Omenn syndrome].

Wang YQ, Cui YX, Feng J.

Zhonghua Er Ke Za Zhi. 2013 Jan;51(1):64-8. Chinese.

PMID:
23527934
16.

First reported case of Omenn syndrome in a patient with reticular dysgenesis.

Henderson LA, Frugoni F, Hopkins G, Al-Herz W, Weinacht K, Comeau AM, Bonilla FA, Notarangelo LD, Pai SY.

J Allergy Clin Immunol. 2013 Apr;131(4):1227-30, 1230.e1-3. doi: 10.1016/j.jaci.2012.07.045. Epub 2012 Sep 24. No abstract available.

17.

From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family.

Martinez-Martinez L, Vazquez-Ortiz M, Gonzalez-Santesteban C, Martin-Nalda A, Vicente A, Plaza AM, Badell I, Alsina L, de la Calle-Martin O.

Pediatr Allergy Immunol. 2012 Nov;23(7):660-6. doi: 10.1111/j.1399-3038.2012.01339.x. Epub 2012 Aug 13.

PMID:
22882342
18.

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.

Chou J, Hanna-Wakim R, Tirosh I, Kane J, Fraulino D, Lee YN, Ghanem S, Mahfouz I, Mégarbané A, Lefranc G, Inati A, Dbaibo G, Giliani S, Notarangelo LD, Geha RS, Massaad MJ.

J Allergy Clin Immunol. 2012 Dec;130(6):1414-6. doi: 10.1016/j.jaci.2012.06.012. Epub 2012 Jul 25. No abstract available.

19.

Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications.

Marrella V, Poliani PL, Fontana E, Casati A, Maina V, Cassani B, Ficara F, Cominelli M, Schena F, Paulis M, Traggiai E, Vezzoni P, Grassi F, Villa A.

Blood. 2012 Aug 2;120(5):1005-14. doi: 10.1182/blood-2012-01-406827. Epub 2012 Jun 21.

20.

Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency.

Joshi AY, Ham EK, Shah NB, Dong X, Khan SP, Abraham RS.

Case Reports Immunol. 2012;2012:919241. doi: 10.1155/2012/919241. Epub 2012 May 31.

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