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Items: 1 to 20 of 96

1.

Disseminated cryptococcal infection in patient with novel JAK3 mutation severe combined immunodeficiency, with resolution after stem cell transplantation.

Alsum Z, Al-Saud B, Al-Ghonaium A, Bin Hussain I, Alsmadi O, Al-Mousa H, Ayas M, Al-Dhekri H, Arnaout R, Al-Muhsen S.

Pediatr Infect Dis J. 2012 Feb;31(2):204-6. doi: 10.1097/INF.0b013e318239c3b3.

PMID:
22138680
2.

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
3.

Jak3 and the pathogenesis of severe combined immunodeficiency.

O'Shea JJ, Husa M, Li D, Hofmann SR, Watford W, Roberts JL, Buckley RH, Changelian P, Candotti F.

Mol Immunol. 2004 Jul;41(6-7):727-37. Review.

PMID:
15220007
4.

Cutaneous granulomas with predominantly CD8(+) lymphocytic infiltrate in a child with severe combined immunodeficiency.

Gregoriou S, Trimis G, Charissi C, Kalogeromitros D, Stefanaki K, Rigopoulos D.

J Cutan Med Surg. 2008 Sep-Oct;12(5):246-8.

PMID:
18845095
5.

Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation.

Roberts JL, Lengi A, Brown SM, Chen M, Zhou YJ, O'Shea JJ, Buckley RH.

Blood. 2004 Mar 15;103(6):2009-18. Epub 2003 Nov 13.

6.

Unusual clinical and immunologic manifestations of transplacentally acquired maternal T cells in severe combined immunodeficiency.

Palmer K, Green TD, Roberts JL, Sajaroff E, Cooney M, Parrott R, Chen DF, Reinsmoen NL, Buckley RH.

J Allergy Clin Immunol. 2007 Aug;120(2):423-8. Epub 2007 May 3.

PMID:
17481714
7.

Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment.

Cattaneo F, Recher M, Masneri S, Baxi SN, Fiorini C, Antonelli F, Wysocki CA, Calderon JG, Eibel H, Smith AR, Bonilla FA, Tsitsikov E, Giliani S, Notarangelo LD, Pai SY.

J Allergy Clin Immunol. 2013 Apr;131(4):1136-45. doi: 10.1016/j.jaci.2012.12.667. Epub 2013 Feb 4.

PMID:
23384681
8.

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.

Notarangelo LD, Mella P, Jones A, de Saint Basile G, Savoldi G, Cranston T, Vihinen M, Schumacher RF.

Hum Mutat. 2001 Oct;18(4):255-63. Review.

PMID:
11668610
9.

Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain.

Mella P, Schumacher RF, Cranston T, de Saint Basile G, Savoldi G, Notarangelo LD.

Hum Mutat. 2001 Oct;18(4):355-6.

PMID:
11668621
10.

A novel mutation of intron 22 in Janus kinase 3-deficient severe combined immunodeficiency.

Mjaanes CM, Hendershot RW, Quinones RR, Gelfand EW.

J Allergy Clin Immunol. 2007 Jun;119(6):1542-5. Epub 2007 Apr 16. No abstract available.

PMID:
17433830
11.

A novel JAK3 mutation in a Japanese patient with severe combined immunodeficiency.

Uchiyama T, Kumaki S, Fujiwara M, Nishida Y, Hakozaki I, Imai K, Du W, Yoshinari M, Sasahara Y, Tsuchiya S.

Pediatr Int. 2005 Oct;47(5):575-8. No abstract available.

PMID:
16190968
12.

Disseminated Bacille Calmette-Guérin disease as the initial presentation of X-linked severe combined immunodeficiency--a case report.

Huang LH, Shyur SD, Weng JD, Shin-Chi, Tzen CY, Huang FY.

Asian Pac J Allergy Immunol. 2005 Dec;23(4):221-6.

13.

Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment.

Bozzi F, Lefranc G, Villa A, Badolato R, Schumacher RF, Khalil G, Loiselet J, Bresciani S, O'Shea JJ, Vezzoni P, Notarangelo LD, Candotti F.

Br J Haematol. 1998 Sep;102(5):1363-6.

PMID:
9753072
14.

In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction.

Candotti F, Oakes SA, Johnston JA, Notarangelo LD, O'Shea JJ, Blaese RM.

J Exp Med. 1996 Jun 1;183(6):2687-92.

15.

Common Variable Immunodeficiency or Late-Onset Combined Immunodeficiency: A New Hypomorphic JAK3 Patient and Review of the Literature.

Abolhassani H, Cheraghi T, Rezaei N, Aghamohammadi A, Hammarström L.

J Investig Allergol Clin Immunol. 2015;25(3):218-20. Review. No abstract available.

16.

Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency.

Vihinen M, Villa A, Mella P, Schumacher RF, Savoldi G, O'Shea JJ, Candotti F, Notarangelo LD.

Clin Immunol. 2000 Aug;96(2):108-18.

PMID:
10900158
17.

Gastrointestinal cryptococcosis.

Washington K, Gottfried MR, Wilson ML.

Mod Pathol. 1991 Nov;4(6):707-11. Erratum in: Mod Pathol 1992 Mar;5(2):211.

PMID:
1788263
18.

Impaired IL-7 signaling may explain a case of atypical JAK3-SCID.

Li J, Nara H, Rahman M, Juliana FM, Araki A, Asao H.

Cytokine. 2010 Feb;49(2):221-8. doi: 10.1016/j.cyto.2009.09.009. Epub 2009 Nov 3.

PMID:
19889552
19.

Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.

Notarangelo LD, Giliani S, Mazza C, Mella P, Savoldi G, Rodriguez-Pérez C, Mazzolari E, Fiorini M, Duse M, Plebani A, Ugazio AG, Vihinen M, Candotti F, Schumacher RF.

Immunol Rev. 2000 Dec;178:39-48. Review.

PMID:
11213805
20.

Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.

Schumacher RF, Mella P, Badolato R, Fiorini M, Savoldi G, Giliani S, Villa A, Candotti F, Tampalini A, O'Shea JJ, Notarangelo LD.

Hum Genet. 2000 Jan;106(1):73-9.

PMID:
10982185
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