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Literature DB >> 23122631

Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation.

Roshini S Abraham, Mike Recher, Silvia Giliani, Jolan E Walter, Yu Nee Lee, Francesco Frugoni, Daniel E Maddox, Salman Kirmani, Luigi D Notarangelo.

Abstract

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2012 PMID： 23122631 PMCID： PMC3725988 DOI： 10.1016/j.jaci.2012.09.016

Source DB: PubMed Journal: J Allergy Clin Immunol ISSN： 0091-6749 Impact factor: 10.793

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7 in total

1. Hypomorphic Rag mutations can cause destructive midline granulomatous disease.

Authors: Suk See De Ravin; Edward W Cowen; Kol A Zarember; Narda L Whiting-Theobald; Douglas B Kuhns; Netanya G Sandler; Daniel C Douek; Stefania Pittaluga; Pietro L Poliani; Yu Nee Lee; Luigi D Notarangelo; Lei Wang; Frederick W Alt; Elizabeth M Kang; Joshua D Milner; Julie E Niemela; Mary Fontana-Penn; Sara H Sinal; Harry L Malech
Journal: Blood Date: 2010-05-20 Impact factor: 22.113

2. Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations.

Authors: Taco W Kuijpers; Hanna Ijspeert; Ester M M van Leeuwen; Machiel H Jansen; Mette D Hazenberg; Kees C Weijer; Rene A W van Lier; Mirjam van der Burg
Journal: Blood Date: 2011-04-18 Impact factor: 22.113

3. Highly variable clinical phenotypes of hypomorphic RAG1 mutations.

Authors: Elizabeth Mannino Avila; Gulbu Uzel; Amy Hsu; Joshua D Milner; Maria L Turner; Stefania Pittaluga; Alexandra F Freeman; Steven M Holland
Journal: Pediatrics Date: 2010-10-18 Impact factor: 7.124

4. Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency.

Authors: C L Shovlin; H A Simmonds; L D Fairbanks; S J Deacock; J M Hughes; R I Lechler; A D Webster; X M Sun; J C Webb; A K Soutar
Journal: J Immunol Date: 1994-09-01 Impact factor: 5.422

5. Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation.

Authors: William Giblin; Monalisa Chatterji; Gerwin Westfield; Tehmina Masud; Brian Theisen; Hwei-Ling Cheng; Jeffrey DeVido; Frederick W Alt; David O Ferguson; David G Schatz; JoAnn Sekiguchi
Journal: Blood Date: 2009-01-06 Impact factor: 22.113

6. N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.

Authors: S Santagata; C A Gomez; C Sobacchi; F Bozzi; M Abinun; S Pasic; P Cortes; P Vezzoni; A Villa
Journal: Proc Natl Acad Sci U S A Date: 2000-12-19 Impact factor: 11.205

Review 7. Omenn syndrome: inflammation in leaky severe combined immunodeficiency.

Authors: Anna Villa; Luigi D Notarangelo; Chaim M Roifman
Journal: J Allergy Clin Immunol Date: 2008-11-06 Impact factor: 10.793

7 in total

17 in total

1. Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association.

Authors: Christina S Yee; Michel J Massaad; Wayne Bainter; Toshiro K Ohsumi; Niko Föger; Andrew C Chan; Nurten A Akarsu; Caner Aytekin; Deniz Çagdas Ayvaz; Ilhan Tezcan; Özden Sanal; Raif S Geha; Janet Chou
Journal: J Allergy Clin Immunol Date: 2015-10-21 Impact factor: 10.793

2. Idiopathic CD4 lymphocytopenia: Pathogenesis, etiologies, clinical presentations and treatment strategies.

Authors: Hale Yarmohammadi; Charlotte Cunningham-Rundles
Journal: Ann Allergy Asthma Immunol Date: 2017-10 Impact factor: 6.347

3. Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection.

Authors: Cullen M Dutmer; Edwin J Asturias; Christiana Smith; Megan K Dishop; D Scott Schmid; William J Bellini; Irit Tirosh; Yu Nee Lee; Luigi D Notarangelo; Erwin W Gelfand
Journal: J Clin Immunol Date: 2015-10-29 Impact factor: 8.317

4. Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.

Authors: David Buchbinder; Rebecca Baker; Yu Nee Lee; Juan Ravell; Yu Zhang; Joshua McElwee; Diane Nugent; Emily M Coonrod; Jacob D Durtschi; Nancy H Augustine; Karl V Voelkerding; Krisztian Csomos; Lindsey Rosen; Sarah Browne; Jolan E Walter; Luigi D Notarangelo; Harry R Hill; Attila Kumánovics
Journal: J Clin Immunol Date: 2014-12-17 Impact factor: 8.317

Review 5. Advances in basic and clinical immunology in 2013.

Authors: Javier Chinen; Luigi D Notarangelo; William T Shearer
Journal: J Allergy Clin Immunol Date: 2014-02-28 Impact factor: 10.793

6. Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine).

Authors: Svetlana O Sharapova; Irina E Guryanova; Olga E Pashchenko; Irina V Kondratenko; Larisa V Kostyuchenko; Yulia A Rodina; Tatjana V Varlamova; Anastasiia V Bondarenko; Liudmyla I Chernyshova; Marina N Gyseva; Mikhail V Belevtsev; Nina V Minakovskaya; Olga V Aleinikova
Journal: J Clin Immunol Date: 2015-11-23 Impact factor: 8.317

Review 10. A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay.

Authors: Monica S Thakar; Mary K Hintermeyer; Miranda G Gries; John M Routes; James W Verbsky
Journal: Front Immunol Date: 2017-11-08 Impact factor: 7.561