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Results: 1 to 20 of 102

1.

Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy.

Dhingra N, Yadav SP, de Villartay JP, Picard C, Sabharwal RK, Dinand V, Ghuman SS, Sachdeva A.

Hematol Oncol Stem Cell Ther. 2014 Mar;7(1):44-9. doi: 10.1016/j.hemonc.2013.11.001. Epub 2013 Dec 12.

PMID:
24333136
[PubMed - indexed for MEDLINE]
Free Article
2.

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
[PubMed - indexed for MEDLINE]
3.

Interleukin 7 receptor alpha-chain-mutation severe combined immunodeficiency without lymphopenia: correction with haploidentical T-cell-depleted bone marrow transplantation.

Ponda P, Schuval SJ, Kaplan B, Logalbo P, Roberts JL, Bonagura VR.

Ann Allergy Asthma Immunol. 2006 Dec;97(6):755-8.

PMID:
17201233
[PubMed - indexed for MEDLINE]
4.

Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency.

Wada T, Toma T, Okamoto H, Kasahara Y, Koizumi S, Agematsu K, Kimura H, Shimada A, Hayashi Y, Kato M, Yachie A.

Blood. 2005 Sep 15;106(6):2099-101. Epub 2005 Apr 21.

PMID:
15845893
[PubMed - indexed for MEDLINE]
Free Article
5.

Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

Alsmadi O, Al-Ghonaium A, Al-Muhsen S, Arnaout R, Al-Dhekri H, Al-Saud B, Al-Kayal F, Al-Saud H, Al-Mousa H.

BMC Med Genet. 2009 Nov 13;10:116. doi: 10.1186/1471-2350-10-116.

PMID:
19912631
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation.

Verfuurden B, Wempe F, Reinink P, van Kooten PJ, Martens E, Gerritsen R, Vos JH, Rutten VP, Leegwater PA.

Genes Immun. 2011 Jun;12(4):310-3. doi: 10.1038/gene.2011.6. Epub 2011 Feb 3.

PMID:
21293384
[PubMed - indexed for MEDLINE]
7.

Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children.

Lee PP, Chan KW, Chen TX, Jiang LP, Wang XC, Zeng HS, Chen XY, Liew WK, Chen J, Chu KM, Chan LL, Shek L, Lee AC, Yu HH, Li Q, Xu CG, Sultan-Ugdoracion G, Latiff ZA, Latiff AH, Jirapongsananuruk O, Ho MH, Lee TL, Yang XQ, Lau YL.

J Clin Immunol. 2011 Apr;31(2):281-96. doi: 10.1007/s10875-010-9489-z. Epub 2010 Dec 24.

PMID:
21184155
[PubMed - indexed for MEDLINE]
8.

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.

de Villartay JP, Lim A, Al-Mousa H, Dupont S, Déchanet-Merville J, Coumau-Gatbois E, Gougeon ML, Lemainque A, Eidenschenk C, Jouanguy E, Abel L, Casanova JL, Fischer A, Le Deist F.

J Clin Invest. 2005 Nov;115(11):3291-9.

PMID:
16276422
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia.

Hofmann C, Liese J, Schwarz T, Kunzmann S, Wirbelauer J, Nowak J, Hamann J, Girschick H, Graser S, Dietz K, Zeck S, Jakob F, Mentrup B.

Bone. 2013 Jul;55(1):150-7. doi: 10.1016/j.bone.2013.02.017. Epub 2013 Feb 27.

PMID:
23454488
[PubMed - indexed for MEDLINE]
10.

Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.

Zhang ZY, Zhao XD, Jiang LP, Liu EM, Cui YX, Wang M, Wei H, Yu J, An YF, Yang XQ.

Pediatr Allergy Immunol. 2011 Aug;22(5):482-7. doi: 10.1111/j.1399-3038.2010.01126.x. Epub 2011 Mar 29.

PMID:
21771083
[PubMed - indexed for MEDLINE]
11.

[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
[PubMed - indexed for MEDLINE]
12.

Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome.

Ohm-Laursen L, Nielsen C, Fisker N, Lillevang ST, Barington T.

J Clin Immunol. 2008 Sep;28(5):588-92. doi: 10.1007/s10875-008-9210-7. Epub 2008 Jul 1.

PMID:
18592361
[PubMed - indexed for MEDLINE]
13.

Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.

Tabori U, Mark Z, Amariglio N, Etzioni A, Golan H, Biloray B, Toren A, Rechavi G, Dalal I.

Clin Genet. 2004 Apr;65(4):322-6.

PMID:
15025726
[PubMed - indexed for MEDLINE]
14.

Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.

Karaca NE, Aksu G, Genel F, Gulez N, Can S, Aydinok Y, Aksoylar S, Karaca E, Altuglu I, Kutukculer N.

Clin Exp Med. 2009 Dec;9(4):339-42. doi: 10.1007/s10238-009-0053-1. Epub 2009 May 21.

PMID:
19458910
[PubMed - indexed for MEDLINE]
15.

Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome.

van Til NP, Sarwari R, Visser TP, Hauer J, Lagresle-Peyrou C, van der Velden G, Malshetty V, Cortes P, Jollet A, Danos O, Cassani B, Zhang F, Thrasher AJ, Fontana E, Poliani PL, Cavazzana M, Verstegen MM, Villa A, Wagemaker G.

J Allergy Clin Immunol. 2014 Apr;133(4):1116-23. doi: 10.1016/j.jaci.2013.10.009. Epub 2013 Dec 9.

PMID:
24332219
[PubMed - indexed for MEDLINE]
16.

Novel RAG2 mutation in a patient with T- B- severe combined immunodeficiency and disseminated BCG disease.

Sadeghi-Shabestari M, Vesal S, Jabbarpour-Bonyadi M, de Villatay JP, Fischer A, Rezaei N.

J Investig Allergol Clin Immunol. 2009;19(6):494-6.

PMID:
20128425
[PubMed - indexed for MEDLINE]
Free Article
17.

Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.

Dalal I, Tasher D, Somech R, Etzioni A, Garti BZ, Lev D, Cohen S, Somekh E, Leshinsky-Silver E.

Clin Immunol. 2011 Sep;140(3):284-90. doi: 10.1016/j.clim.2011.04.011. Epub 2011 May 7.

PMID:
21624848
[PubMed - indexed for MEDLINE]
18.

Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency.

Greil J, Rausch T, Giese T, Bandapalli OR, Daniel V, Bekeredjian-Ding I, Stütz AM, Drees C, Roth S, Ruland J, Korbel JO, Kulozik AE.

J Allergy Clin Immunol. 2013 May;131(5):1376-83.e3. doi: 10.1016/j.jaci.2013.02.012. Epub 2013 Apr 3.

PMID:
23561803
[PubMed - indexed for MEDLINE]
19.

Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.

Gruber TA, Shah AJ, Hernandez M, Crooks GM, Abdel-Azim H, Gupta S, McKnight S, White D, Kapoor N, Kohn DB.

Pediatr Transplant. 2009 Mar;13(2):244-50. doi: 10.1111/j.1399-3046.2008.00970.x. Epub 2008 Sep 5.

PMID:
18822103
[PubMed - indexed for MEDLINE]
20.

An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency.

Vatanavicharn N, Visitsunthorn N, Pho-iam T, Jirapongsananuruk O, Pacharn P, Chokephaibulkit K, Limwongse C, Wasant P.

J Appl Genet. 2010;51(4):523-8. doi: 10.1007/BF03208884.

PMID:
21063072
[PubMed - indexed for MEDLINE]

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