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Literature DB >> 15096561

The molecular pathology of primary immunodeficiencies.

Megan S Lim¹, Kojo S J Elenitoba-Johnson.

Abstract

Entities: Disease

Mesh：

Year: 2004 PMID： 15096561 PMCID： PMC1867474 DOI： 10.1016/S1525-1578(10)60493-X

Source DB: PubMed Journal: J Mol Diagn ISSN： 1525-1578 Impact factor: 5.568

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236 in total

1. Correction of the hyper-IgM syndrome after liver and bone marrow transplantation.

Authors: N Hadzić; A Pagliuca; M Rela; B Portmann; A Jones; P Veys; N D Heaton; G J Mufti; G Mieli-Vergani
Journal: N Engl J Med Date: 2000-02-03 Impact factor: 91.245

Review 2. Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies.

Authors:
Journal: Clin Exp Immunol Date: 1999-10 Impact factor: 4.330

3. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

Authors: G L Xu; T H Bestor; D Bourc'his; C L Hsieh; N Tommerup; M Bugge; M Hulten; X Qu; J J Russo; E Viegas-Péquignot
Journal: Nature Date: 1999-11-11 Impact factor: 49.962

4. WASP levels in platelets and lymphocytes of wiskott-aldrich syndrome patients correlate with cell dysfunction.

Authors: A Shcherbina; F S Rosen; E Remold-O'Donnell
Journal: J Immunol Date: 1999-12-01 Impact factor: 5.422

5. The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.

Authors: R S Hansen; C Wijmenga; P Luo; A M Stanek; T K Canfield; C M Weemaes; S M Gartler
Journal: Proc Natl Acad Sci U S A Date: 1999-12-07 Impact factor: 11.205

6. 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

7. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

Authors: M Horwitz; K F Benson; R E Person; A G Aprikyan; D C Dale
Journal: Nat Genet Date: 1999-12 Impact factor: 38.330

8. 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

9. Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks.

Authors: D Cortez; Y Wang; J Qin; S J Elledge
Journal: Science Date: 1999-11-05 Impact factor: 47.728

10. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies).

Authors: M E Conley; L D Notarangelo; A Etzioni
Journal: Clin Immunol Date: 1999-12 Impact factor: 3.969

17 in total

1. Validity of Primary Immunodeficiency Disease Diagnoses in United States Medicaid Data.

Authors: Hillary Hernandez-Trujillo; Jordan S Orange; Jason A Roy; Yanli Wang; Craig N Newcomb; Qing Liu; Sean Hennessy; Vincent Lo Re
Journal: J Clin Immunol Date: 2015-08-14 Impact factor: 8.317

2. Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics?

Authors: David Buchbinder; Kari Nadeau; Diane Nugent
Journal: J Clin Immunol Date: 2011-06-28 Impact factor: 8.317

3. Comparison of American and European practices in the management of patients with primary immunodeficiencies.

Authors: H S Hernandez-Trujillo; H Chapel; V Lo Re; L D Notarangelo; B Gathmann; B Grimbacher; J M Boyle; V P Hernandez-Trujillo; C Scalchunes; M L Boyle; J S Orange
Journal: Clin Exp Immunol Date: 2012-07 Impact factor: 4.330

4. Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis.

Authors: Hassan Abolhassani; Fatemeh Kiaee; Marzieh Tavakol; Zahra Chavoshzadeh; Seyed Alireza Mahdaviani; Tooba Momen; Reza Yazdani; Gholamreza Azizi; Sima Habibi; Mohammad Gharagozlou; Masoud Movahedi; Amir Ali Hamidieh; Nasrin Behniafard; Mohammamd Nabavi; Mohammad Hassan Bemanian; Saba Arshi; Rasol Molatefi; Roya Sherkat; Afshin Shirkani; Reza Amin; Soheila Aleyasin; Reza Faridhosseini; Farahzad Jabbari-Azad; Iraj Mohammadzadeh; Javad Ghaffari; Alireza Shafiei; Arash Kalantari; Mahboubeh Mansouri; Mehrnaz Mesdaghi; Delara Babaie; Hamid Ahanchian; Maryam Khoshkhui; Habib Soheili; Mohammad Hossein Eslamian; Taher Cheraghi; Abbas Dabbaghzadeh; Mahmoud Tavassoli; Rasoul Nasiri Kalmarzi; Seyed Hamidreza Mortazavi; Sara Kashef; Hossein Esmaeilzadeh; Javad Tafaroji; Abbas Khalili; Fariborz Zandieh; Mahnaz Sadeghi-Shabestari; Sepideh Darougar; Fatemeh Behmanesh; Hedayat Akbari; Mohammadreza Zandkarimi; Farhad Abolnezhadian; Abbas Fayezi; Mojgan Moghtaderi; Akefeh Ahmadiafshar; Behzad Shakerian; Vahid Sajedi; Behrang Taghvaei; Mojgan Safari; Marzieh Heidarzadeh; Babak Ghalebaghi; Seyed Mohammad Fathi; Behzad Darabi; Saeed Bazregari; Nasrin Bazargan; Morteza Fallahpour; Alireza Khayatzadeh; Naser Javahertrash; Bahram Bashardoust; Mohammadali Zamani; Azam Mohsenzadeh; Sarehsadat Ebrahimi; Samin Sharafian; Ahmad Vosughimotlagh; Mitra Tafakoridelbari; Maziar Rahimi; Parisa Ashournia; Anahita Razaghian; Arezou Rezaei; Setareh Mamishi; Nima Parvaneh; Nima Rezaei; Lennart Hammarström; Asghar Aghamohammadi
Journal: J Clin Immunol Date: 2018-10-09 Impact factor: 8.317