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Items: 1 to 20 of 126

1.

Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants.

Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, Harville TO, Roberts JL, Puck JM.

J Pediatr. 1997 Mar;130(3):378-87.

PMID:
9063412
2.

X-linked SCID and other defects of cytokine pathways.

Uribe L, Weinberg KI.

Semin Hematol. 1998 Oct;35(4):299-309. Review.

PMID:
9801259
3.

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.

4.

Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency.

Gilmour KC, Cranston T, Loughlin S, Gwyther J, Lester T, Espanol T, Hernandez M, Savoldi G, Davies EG, Abinun M, Kinnon C, Jones A, Gaspar HB.

Br J Haematol. 2001 Mar;112(3):671-6.

PMID:
11260071
5.
6.

Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase.

Brugnoni D, Notarangelo LD, Sottini A, Airò P, Pennacchio M, Mazzolari E, Signorini S, Candotti F, Villa A, Mella P, Vezzoni P, Cattaneo R, Ugazio AG, Imberti L.

Blood. 1998 Feb 1;91(3):949-55.

7.

Monocyte function in a severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene.

Villa A, Sironi M, Macchi P, Matteucci C, Notarangelo LD, Vezzoni P, Mantovani A.

Blood. 1996 Aug 1;88(3):817-23.

8.

Severe combined immune deficiency in an adenosine deaminase-deficient patient.

Ozdemir O.

Allergy Asthma Proc. 2006 Mar-Apr;27(2):172-4.

PMID:
16724639
9.

Mutations in the gene for the IL-7 receptor result in T(-)B(+)NK(+) severe combined immunodeficiency disease.

Puel A, Leonard WJ.

Curr Opin Immunol. 2000 Aug;12(4):468-73. Review.

PMID:
10899029
10.
11.

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.

12.

Unexpected and variable phenotypes in a family with JAK3 deficiency.

Frucht DM, Gadina M, Jagadeesh GJ, Aksentijevich I, Takada K, Bleesing JJ, Nelson J, Muul LM, Perham G, Morgan G, Gerritsen EJ, Schumacher RF, Mella P, Veys PA, Fleisher TA, Kaminski ER, Notarangelo LD, O'Shea JJ, Candotti F.

Genes Immun. 2001 Dec;2(8):422-32.

13.

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
14.

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
15.

Advances in the understanding and treatment of human severe combined immunodeficiency.

Buckley RH.

Immunol Res. 2000;22(2-3):237-51. Review.

PMID:
11339359
16.

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
17.

Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.

la Marca G, Canessa C, Giocaliere E, Romano F, Duse M, Malvagia S, Lippi F, Funghini S, Bianchi L, Della Bona ML, Valleriani C, Ombrone D, Moriondo M, Villanelli F, Speckmann C, Adams S, Gaspar BH, Hershfield M, Santisteban I, Fairbanks L, Ragusa G, Resti M, de Martino M, Guerrini R, Azzari C.

J Allergy Clin Immunol. 2013 Jun;131(6):1604-10. doi: 10.1016/j.jaci.2012.08.054. Epub 2012 Dec 30.

PMID:
23280131
18.

T lymphocyte ontogeny in adenosine deaminase-deficient severe combined immune deficiency after treatment with polyethylene glycol-modified adenosine deaminase.

Weinberg K, Hershfield MS, Bastian J, Kohn D, Sender L, Parkman R, Lenarsky C.

J Clin Invest. 1993 Aug;92(2):596-602.

19.

Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID).

Chan B, Wara D, Bastian J, Hershfield MS, Bohnsack J, Azen CG, Parkman R, Weinberg K, Kohn DB.

Clin Immunol. 2005 Nov;117(2):133-43. Epub 2005 Aug 22.

PMID:
16112907
20.

Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.

Russell SM, Tayebi N, Nakajima H, Riedy MC, Roberts JL, Aman MJ, Migone TS, Noguchi M, Markert ML, Buckley RH, O'Shea JJ, Leonard WJ.

Science. 1995 Nov 3;270(5237):797-800.

PMID:
7481768

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