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Literature DB >> 12021239

Molecular aspects of primary immunodeficiencies: lessons from cytokine and other signaling pathways.

Fabio Candotti¹, Luigi Notarangelo, Roberta Visconti, John O'Shea.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2002 PMID： 12021239 PMCID： PMC150986 DOI： 10.1172/JCI15769

Source DB: PubMed Journal: J Clin Invest ISSN： 0021-9738 Impact factor: 14.808

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62 in total

1. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.

Authors: M F McDermott; I Aksentijevich; J Galon; E M McDermott; B W Ogunkolade; M Centola; E Mansfield; M Gadina; L Karenko; T Pettersson; J McCarthy; D M Frucht; M Aringer; Y Torosyan; A M Teppo; M Wilson; H M Karaarslan; Y Wan; I Todd; G Wood; R Schlimgen; T R Kumarajeewa; S M Cooper; J P Vella; C I Amos; J Mulley; K A Quane; M G Molloy; A Ranki; R J Powell; G A Hitman; J J O'Shea; D L Kastner
Journal: Cell Date: 1999-04-02 Impact factor: 41.582

2. An essential role for BLNK in human B cell development.

Authors: Y Minegishi; J Rohrer; E Coustan-Smith; H M Lederman; R Pappu; D Campana; A C Chan; M E Conley
Journal: Science Date: 1999-12-03 Impact factor: 47.728

3. Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

Authors: S E Stepp; R Dufourcq-Lagelouse; F Le Deist; S Bhawan; S Certain; P A Mathew; J I Henter; M Bennett; A Fischer; G de Saint Basile; V Kumar
Journal: Science Date: 1999-12-03 Impact factor: 47.728

4. Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.

Authors: J Wang; L Zheng; A Lobito; F K Chan; J Dale; M Sneller; X Yao; J M Puck; S E Straus; M J Lenardo
Journal: Cell Date: 1999-07-09 Impact factor: 41.582

5. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.

Authors: G H Fisher; F J Rosenberg; S E Straus; J K Dale; L A Middleton; A Y Lin; W Strober; M J Lenardo; J M Puck
Journal: Cell Date: 1995-06-16 Impact factor: 41.582

6. Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency.

Authors: A Puel; S F Ziegler; R H Buckley; W J Leonard
Journal: Nat Genet Date: 1998-12 Impact factor: 38.330

7. T lymphocytes with a normal ADA gene accumulate after transplantation of transduced autologous umbilical cord blood CD34+ cells in ADA-deficient SCID neonates.

Authors: D B Kohn; M S Hershfield; D Carbonaro; A Shigeoka; J Brooks; E M Smogorzewska; L W Barsky; R Chan; F Burotto; G Annett; J A Nolta; G Crooks; N Kapoor; M Elder; D Wara; T Bowen; E Madsen; F F Snyder; J Bastian; L Muul; R M Blaese; K Weinberg; R Parkman
Journal: Nat Med Date: 1998-07 Impact factor: 53.440

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

Authors: S M Russell; N Tayebi; H Nakajima; M C Riedy; J L Roberts; M J Aman; T S Migone; M Noguchi; M L Markert; R H Buckley; J J O'Shea; W J Leonard
Journal: Science Date: 1995-11-03 Impact factor: 47.728

9. Complex effects of naturally occurring mutations in the JAK3 pseudokinase domain: evidence for interactions between the kinase and pseudokinase domains.

Authors: M Chen; A Cheng; F Candotti; Y J Zhou; A Hymel; A Fasth; L D Notarangelo; J J O'Shea
Journal: Mol Cell Biol Date: 2000-02 Impact factor: 4.272

10. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM.

Authors: J Sayos; C Wu; M Morra; N Wang; X Zhang; D Allen; S van Schaik; L Notarangelo; R Geha; M G Roncarolo; H Oettgen; J E De Vries; G Aversa; C Terhorst
Journal: Nature Date: 1998-10-01 Impact factor: 49.962

12 in total

Review 1. Stat proteins and oncogenesis.

Authors: Jacqueline Bromberg
Journal: J Clin Invest Date: 2002-05 Impact factor: 14.808

Review 2. Series introduction. JAK-STAT signaling in human disease.

Authors: Christian W Schindler
Journal: J Clin Invest Date: 2002-05 Impact factor: 14.808

Review 3. Targeting the Jak/STAT pathway for immunosuppression.

Authors: J J O'shea
Journal: Ann Rheum Dis Date: 2004-11 Impact factor: 19.103

4. Immune globulin subcutaneous (human) vivaglobin: for the treatment of primary immunodeficiency diseases.

Authors:
Journal: P T Date: 2009-06

5. An immune globulin intravenous (human), 10% liquid privigen: for the treatment of primary immunodeficiency diseases.