Literature DB >> 11253129

Diagnosis of severe combined immunodeficiency.

A R Gennery1, A J Cant.   

Abstract

Early diagnosis of severe combined immunodeficiency (SCID) is important to enable prompt referral to a supraregional centre for bone marrow transplantation before the occurrence of end organ damage secondary to infective complications. This review outlines clinical, microbiological, and immunopathological clues that aid the diagnosis of SCID and emphasises the multidisciplinary approach needed to diagnose and treat these infants.

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Mesh：

Year:  2001        PMID： 11253129      PMCID： PMC1731376          DOI： 10.1136/jcp.54.3.191

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN： 0021-9746            Impact factor:   3.411


  32 in total

1.  Prevalence of lymphocytopenia in severe combined immunodeficiency.

Authors:  D L Gossage; R H Buckley
Journal:  N Engl J Med       Date:  1990-11-15       Impact factor: 91.245

2.  Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome).

Authors:  G de Saint-Basile; F Le Deist; J P de Villartay; N Cerf-Bensussan; O Journet; N Brousse; C Griscelli; A Fischer
Journal:  J Clin Invest       Date:  1991-04       Impact factor: 14.808

3.  Defects in cell-mediated immunity.

Authors:  F S Rosen
Journal:  Clin Immunol Immunopathol       Date:  1986-10

4.  Severe combined immunodeficiency due to a specific defect in the production of interleukin-2.

Authors:  K Weinberg; R Parkman
Journal:  N Engl J Med       Date:  1990-06-14       Impact factor: 91.245

5.  Primary immunodeficiencies in Switzerland: first report of the national registry in adults and children.

Authors:  O Ryser; A Morell; W H Hitzig
Journal:  J Clin Immunol       Date:  1988-11       Impact factor: 8.317

6.  The use of T cell culture techniques to establish the presence of an intrauterine-derived maternal T cell graft in a patient with severe combined immunodeficiency (SCID).

Authors:  N Flomenberg; B Dupont; R J O'Reilly; A Hayward; M S Pollack
Journal:  Transplantation       Date:  1983-12       Impact factor: 4.939

7.  Limited T cell receptor diversity of transplacentally acquired maternal T cells in severe combined immunodeficiency.

Authors:  C Knobloch; S F Goldmann; W Friedrich
Journal:  J Immunol       Date:  1991-06-15       Impact factor: 5.422

8.  Assessment of a clinical scoring system for detection of immunodeficiency in children with recurrent infections.

Authors:  E G Lyall; O B Eden; R Dixon; R Sutherland; A Thomson
Journal:  Pediatr Infect Dis J       Date:  1991-09       Impact factor: 2.129

9.  European experience of bone-marrow transplantation for severe combined immunodeficiency.

Authors:  A Fischer; P Landais; W Friedrich; G Morgan; B Gerritsen; A Fasth; F Porta; C Griscelli; S F Goldman; R Levinsky
Journal:  Lancet       Date:  1990-10-06       Impact factor: 79.321

10.  Clinical presentation of Bacillus Calmette-Guérin infections in patients with immunodeficiency syndromes.

Authors:  B Gonzalez; S Moreno; R Burdach; M T Valenzuela; A Henriquez; M I Ramos; R U Sorensen
Journal:  Pediatr Infect Dis J       Date:  1989-04       Impact factor: 2.129
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  9 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

Review 2.  An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy.

Authors:  Geoffrey Kurland; Robin R Deterding; James S Hagood; Lisa R Young; Alan S Brody; Robert G Castile; Sharon Dell; Leland L Fan; Aaron Hamvas; Bettina C Hilman; Claire Langston; Lawrence M Nogee; Gregory J Redding
Journal:  Am J Respir Crit Care Med       Date:  2013-08-01       Impact factor: 21.405

Review 3.  Host genetics of severe influenza: from mouse Mx1 to human IRF7.

Authors:  Michael J Ciancanelli; Laurent Abel; Shen-Ying Zhang; Jean-Laurent Casanova
Journal:  Curr Opin Immunol       Date:  2016-01-04       Impact factor: 7.486

4.  Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency.

Authors:  Michael J Ciancanelli; Sarah X L Huang; Priya Luthra; Hannah Garner; Yuval Itan; Stefano Volpi; Fabien G Lafaille; Céline Trouillet; Mirco Schmolke; Randy A Albrecht; Elisabeth Israelsson; Hye Kyung Lim; Melina Casadio; Tamar Hermesh; Lazaro Lorenzo; Lawrence W Leung; Vincent Pedergnana; Bertrand Boisson; Satoshi Okada; Capucine Picard; Benedicte Ringuier; Françoise Troussier; Damien Chaussabel; Laurent Abel; Isabelle Pellier; Luigi D Notarangelo; Adolfo García-Sastre; Christopher F Basler; Frédéric Geissmann; Shen-Ying Zhang; Hans-Willem Snoeck; Jean-Laurent Casanova
Journal:  Science       Date:  2015-03-26       Impact factor: 47.728

Review 5.  Ocular involvement in primary immunodeficiency diseases.

Authors:  Sima Hosseinverdi; Hassan Hashemi; Asghar Aghamohammadi; Hans D Ochs; Nima Rezaei
Journal:  J Clin Immunol       Date:  2013-11-30       Impact factor: 8.542

Review 6.  A family history of serious complications due to BCG vaccination is a tool for the early diagnosis of severe primary immunodeficiency.

Authors:  Pérsio Roxo-Junior; Jorgete Silva; Mauro Andrea; Larissa Oliveira; Fernando Ramalho; Thiago Bezerra; Altacílio A Nunes
Journal:  Ital J Pediatr       Date:  2013-09-10       Impact factor: 2.638

Review 7.  FOXN1 deficient nude severe combined immunodeficiency.

Authors:  Ioanna A Rota; Fatima Dhalla
Journal:  Orphanet J Rare Dis       Date:  2017-01-11       Impact factor: 4.123

8.  Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.

Authors:  Anderson Dik Wai Luk; Pamela P Lee; Huawei Mao; Koon-Wing Chan; Xiang Yuan Chen; Tong-Xin Chen; Jian Xin He; Nadia Kechout; Deepti Suri; Yin Bo Tao; Yong Bin Xu; Li Ping Jiang; Woei Kang Liew; Orathai Jirapongsananuruk; Tassalapa Daengsuwan; Anju Gupta; Surjit Singh; Amit Rawat; Amir Hamzah Abdul Latiff; Anselm Chi Wai Lee; Lynette P Shek; Thi Van Anh Nguyen; Tek Jee Chin; Yin Hsiu Chien; Zarina Abdul Latiff; Thi Minh Huong Le; Nguyen Ngoc Quynh Le; Bee Wah Lee; Qiang Li; Dinesh Raj; Mohamed-Ridha Barbouche; Meow-Keong Thong; Maria Carmen D Ang; Xiao Chuan Wang; Chen Guang Xu; Hai Guo Yu; Hsin-Hui Yu; Tsz Leung Lee; Felix Yat Sun Yau; Wilfred Hing-Sang Wong; Wenwei Tu; Wangling Yang; Patrick Chun Yin Chong; Marco Hok Kung Ho; Yu Lung Lau
Journal:  Front Immunol       Date:  2017-07-12       Impact factor: 7.561

9.  Elucidation of the Effects of a Current X-SCID Therapy on Intestinal Lymphoid Organogenesis Using an In Vivo Animal Model.

Authors:  Tomonori Nochi; Shunichi Suzuki; Shun Ito; Shotaro Morita; Mutsumi Furukawa; Daiichiro Fuchimoto; Yoji Sasahara; Katsuki Usami; Kanae Niimi; Osamu Itano; Minoru Kitago; Sachiko Matsuda; Ayumi Matsuo; Yoshihisa Suyama; Yoshifumi Sakai; Guoyao Wu; Fuller W Bazer; Kouichi Watanabe; Akira Onishi; Hisashi Aso
Journal:  Cell Mol Gastroenterol Hepatol       Date:  2020-02-01
  9 in total

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