Literature DB >> 15545990

The multiple causes of human SCID.

Rebecca H Buckley1.   

Abstract

SCID, a syndrome characterized by the absence of T cells and adaptive immunity, can result from mutations in multiple genes that encode components of the immune system. Three such components are cytokine receptor chains or signaling molecules, five are needed for antigen receptor development, one is adenosine deaminase--a purine salvage pathway enzyme, and the last is a phosphatase, CD45. In this issue of the JCI, a report describes how complete deficiency of the CD3epsilon chain of the T cell antigen receptor/CD3 complex causes human SCID.

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Year:  2004        PMID: 15545990      PMCID: PMC525750          DOI: 10.1172/JCI23571

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


  18 in total

Review 1.  CD45: a critical regulator of signaling thresholds in immune cells.

Authors:  Michelle L Hermiston; Zheng Xu; Arthur Weiss
Journal:  Annu Rev Immunol       Date:  2001-12-19       Impact factor: 28.527

2.  Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease.

Authors:  C Kung; J T Pingel; M Heikinheimo; T Klemola; K Varkila; L I Yoo; K Vuopala; M Poyhonen; M Uhari; M Rogers; S H Speck; T Chatila; M L Thomas
Journal:  Nat Med       Date:  2000-03       Impact factor: 53.440

3.  [Essential lymphocytophthisis; new clinical aspect of infant pathology].

Authors:  E GLANZMANN; P RINIKER
Journal:  Ann Paediatr       Date:  1950 Jul-Aug

4.  Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease.

Authors:  M Cavazzana-Calvo; S Hacein-Bey; G de Saint Basile; F Gross; E Yvon; P Nusbaum; F Selz; C Hue; S Certain; J L Casanova; P Bousso; F L Deist; A Fischer
Journal:  Science       Date:  2000-04-28       Impact factor: 47.728

5.  Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

Authors:  D Moshous; I Callebaut; R de Chasseval; B Corneo; M Cavazzana-Calvo; F Le Deist; I Tezcan; O Sanal; Y Bertrand; N Philippe; A Fischer; J P de Villartay
Journal:  Cell       Date:  2001-04-20       Impact factor: 41.582

6.  Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy.

Authors:  Salima Hacein-Bey-Abina; Françoise Le Deist; Frédérique Carlier; Cécile Bouneaud; Christophe Hue; Jean-Pierre De Villartay; Adrian J Thrasher; Nicolas Wulffraat; Ricardo Sorensen; Sophie Dupuis-Girod; Alain Fischer; E Graham Davies; Wietse Kuis; Lilly Leiva; Marina Cavazzana-Calvo
Journal:  N Engl J Med       Date:  2002-04-18       Impact factor: 91.245

7.  Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency.

Authors:  Harjit K Dadi; Amos J Simon; Chaim M Roifman
Journal:  N Engl J Med       Date:  2003-11-06       Impact factor: 91.245

Review 8.  Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution.

Authors:  Rebecca H Buckley
Journal:  Annu Rev Immunol       Date:  2004       Impact factor: 28.527

9.  Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3.

Authors:  Geneviève de Saint Basile; Frédéric Geissmann; Elisabeth Flori; Béatrice Uring-Lambert; Claire Soudais; Marina Cavazzana-Calvo; Anne Durandy; Nada Jabado; Alain Fischer; Françoise Le Deist
Journal:  J Clin Invest       Date:  2004-11       Impact factor: 14.808

10.  Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning.

Authors:  Alessandro Aiuti; Shimon Slavin; Memet Aker; Francesca Ficara; Sara Deola; Alessandra Mortellaro; Shoshana Morecki; Grazia Andolfi; Antonella Tabucchi; Filippo Carlucci; Enrico Marinello; Federica Cattaneo; Sergio Vai; Paolo Servida; Roberto Miniero; Maria Grazia Roncarolo; Claudio Bordignon
Journal:  Science       Date:  2002-06-28       Impact factor: 47.728

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  26 in total

1.  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.

Authors:  Pamela P W Lee; Koon-Wing Chan; Tong-Xin Chen; Li-Ping Jiang; Xiao-Chuan Wang; Hua-Song Zeng; Xiang-Yuan Chen; Woei-Kang Liew; Jing Chen; Kit-Man Chu; Lee-Lee Chan; Lynette Shek; Anselm C W Lee; Hsin-Hui Yu; Qiang Li; Chen-Guang Xu; Geraldine Sultan-Ugdoracion; Zarina Abdul Latiff; Amir Hamzah Abdul Latiff; Orathai Jirapongsananuruk; Marco H K Ho; Tsz-Leung Lee; Xi-Qiang Yang; Yu-Lung Lau
Journal:  J Clin Immunol       Date:  2010-12-24       Impact factor: 8.317

Review 2.  The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review.

Authors:  Robert P Erickson; N Avrion Mitchison
Journal:  J Appl Genet       Date:  2014-03-21       Impact factor: 3.240

3.  Molecular evolution of immunoglobulin superfamily genes in primates.

Authors:  Hitoshi Ohtani; Toshiaki Nakajima; Hirofumi Akari; Takafumi Ishida; Akinori Kimura
Journal:  Immunogenetics       Date:  2011-03-10       Impact factor: 2.846

4.  Severe combined immunodeficiency in Greek children over a 20-year period: rarity of γc-chain deficiency (X-linked) type.

Authors:  Athanasios Michos; Marianna Tzanoudaki; Anna Villa; Silvia Giliani; George Chrousos; Maria Kanariou
Journal:  J Clin Immunol       Date:  2011-07-06       Impact factor: 8.317

5.  Extracorporeal membrane oxygenation as a bridge to allogeneic T-cell depleted hematopoietic stem cell transplantation in infants with severe combined immune deficiency: is it feasible?

Authors:  Matteo Di Nardo; Franco Locatelli; Francesca Di Florio; Corrado Cecchetti; Antonio Amodeo; Sergio Rutella; Alice Bertaina
Journal:  Intensive Care Med       Date:  2014-08-12       Impact factor: 17.440

6.  An analysis and decision tool to measure cost benefit of newborn screening for severe combined immunodeficiency (SCID) and related T-cell lymphopenia.

Authors:  Vicki Modell; Megan Knaus; Fred Modell
Journal:  Immunol Res       Date:  2014-10       Impact factor: 2.829

7.  Mobilization characteristics and strategies to improve hematopoietic progenitor cell mobilization and collection in patients with chronic granulomatous disease and severe combined immunodeficiency.

Authors:  Sandhya R Panch; Yu Ying Yau; Elizabeth M Kang; Suk See De Ravin; Harry L Malech; Susan F Leitman
Journal:  Transfusion       Date:  2014-08-21       Impact factor: 3.157

Review 8.  Variable phenotypic expression of mutations in genes of the immune system.

Authors:  Rebecca H Buckley
Journal:  J Clin Invest       Date:  2005-11       Impact factor: 14.808

Review 9.  Impact of Immune-Modulatory Drugs on Regulatory T Cell.

Authors:  Akiko Furukawa; Steven A Wisel; Qizhi Tang
Journal:  Transplantation       Date:  2016-11       Impact factor: 4.939

10.  The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency.

Authors:  Lawrence R Shiow; David W Roadcap; Kenneth Paris; Susan R Watson; Irina L Grigorova; Tonya Lebet; Jinping An; Ying Xu; Craig N Jenne; Niko Föger; Ricardo U Sorensen; Christopher C Goodnow; James E Bear; Jennifer M Puck; Jason G Cyster
Journal:  Nat Immunol       Date:  2008-10-05       Impact factor: 25.606

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