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Literature DB >> 11159300

Severe combined immunodeficiency--molecular pathogenesis and diagnosis.

H B Gaspar¹, K C Gilmour, A M Jones.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2001 PMID： 11159300 PMCID： PMC1718644 DOI： 10.1136/adc.84.2.169

Source DB: PubMed Journal: Arch Dis Child ISSN： 0003-9888 Impact factor: 3.791

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50 in total

1. V(D)J recombination in Ku86-deficient mice: distinct effects on coding, signal, and hybrid joint formation.

Authors: M A Bogue; C Wang; C Zhu; D B Roth
Journal: Immunity Date: 1997-07 Impact factor: 31.745

Review 2. The role of Jak3 in lymphoid development, activation, and signaling.

Authors: D C Thomis; L J Berg
Journal: Curr Opin Immunol Date: 1997-08 Impact factor: 7.486

3. Adenosine deaminase deficiency in adults.

Authors: H Ozsahin; F X Arredondo-Vega; I Santisteban; H Fuhrer; P Tuchschmid; W Jochum; A Aguzzi; H M Lederman; A Fleischman; J A Winkelstein; R A Seger; M S Hershfield
Journal: Blood Date: 1997-04-15 Impact factor: 22.113

Review 4. Naturally occurring primary deficiencies of the immune system.

Authors: A Fischer; M Cavazzana-Calvo; G De Saint Basile; J P DeVillartay; J P Di Santo; C Hivroz; F Rieux-Laucat; F Le Deist
Journal: Annu Rev Immunol Date: 1997 Impact factor: 28.527

5. Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.

Authors: J M Puck; A E Pepper; P S Henthorn; F Candotti; J Isakov; T Whitwam; M E Conley; R E Fischer; H M Rosenblatt; T N Small; R H Buckley
Journal: Blood Date: 1997-03-15 Impact factor: 22.113

6. Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor.

Authors: N Sharfe; H K Dadi; M Shahar; C M Roifman
Journal: Proc Natl Acad Sci U S A Date: 1997-04-01 Impact factor: 11.205

7. Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency.

Authors: J Villard; B Lisowska-Grospierre; P van den Elsen; A Fischer; W Reith; B Mach
Journal: N Engl J Med Date: 1997-09-11 Impact factor: 91.245

8. Growth retardation and leaky SCID phenotype of Ku70-deficient mice.

Authors: Y Gu; K J Seidl; G A Rathbun; C Zhu; J P Manis; N van der Stoep; L Davidson; H L Cheng; J M Sekiguchi; K Frank; P Stanhope-Baker; M S Schlissel; D B Roth; F W Alt
Journal: Immunity Date: 1997-11 Impact factor: 31.745

9. Abnormal development of intestinal intraepithelial lymphocytes and peripheral natural killer cells in mice lacking the IL-2 receptor beta chain.

Authors: H Suzuki; G S Duncan; H Takimoto; T W Mak
Journal: J Exp Med Date: 1997-02-03 Impact factor: 14.307

10. Structural and functional basis for JAK3-deficient severe combined immunodeficiency.

Authors: F Candotti; S A Oakes; J A Johnston; S Giliani; R F Schumacher; P Mella; M Fiorini; A G Ugazio; R Badolato; L D Notarangelo; F Bozzi; P Macchi; D Strina; P Vezzoni; R M Blaese; J J O'Shea; A Villa
Journal: Blood Date: 1997-11-15 Impact factor: 22.113

7 in total

Review 1. Laboratory diagnosis of primary immunodeficiencies.

Authors: Bradley A Locke; Trivikram Dasu; James W Verbsky
Journal: Clin Rev Allergy Immunol Date: 2014-04 Impact factor: 8.667

2. Increased hydrophobicity at the N terminus/membrane interface impairs gating of the severe combined immunodeficiency-related ORAI1 mutant.

Authors: Isabella Derler; Marc Fahrner; Oliviero Carugo; Martin Muik; Judith Bergsmann; Rainer Schindl; Irene Frischauf; Said Eshaghi; Christoph Romanin
Journal: J Biol Chem Date: 2009-04-14 Impact factor: 5.157