Literature DB >> 28747751

Monogenic immune disorders and severe atopic disease.

Catherine M Biggs1,2, Henry Y Lu1,2, Stuart E Turvey1.   

Abstract

Severe allergic disease is common, and few monogenic causes of atopy have been described. A new study that convincingly links severe atopic dermatitis to heterozygous CARD11 mutations with dominant-interfering activity serves as a timely reminder that clinicians should consider the possibility of an underlying monogenic immune disorder when caring for patients suffering from severe allergic disease.

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Year:  2017        PMID： 28747751     DOI： 10.1038/ng.3925

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  13 in total

1.  STAT3 mutations in the hyper-IgE syndrome.

Authors:  Steven M Holland; Frank R DeLeo; Houda Z Elloumi; Amy P Hsu; Gulbu Uzel; Nina Brodsky; Alexandra F Freeman; Andrew Demidowich; Joie Davis; Maria L Turner; Victoria L Anderson; Dirk N Darnell; Pamela A Welch; Douglas B Kuhns; David M Frucht; Harry L Malech; John I Gallin; Scott D Kobayashi; Adeline R Whitney; Jovanka M Voyich; James M Musser; Cristina Woellner; Alejandro A Schäffer; Jennifer M Puck; Bodo Grimbacher
Journal:  N Engl J Med       Date:  2007-09-19       Impact factor: 91.245

2.  AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.

Authors:  Bernice Lo; Kejian Zhang; Wei Lu; Lixin Zheng; Qian Zhang; Chrysi Kanellopoulou; Yu Zhang; Zhiduo Liu; Jill M Fritz; Rebecca Marsh; Ammar Husami; Diane Kissell; Shannon Nortman; Vijaya Chaturvedi; Hilary Haines; Lisa R Young; Jun Mo; Alexandra H Filipovich; Jack J Bleesing; Peter Mustillo; Michael Stephens; Cesar M Rueda; Claire A Chougnet; Kasper Hoebe; Joshua McElwee; Jason D Hughes; Elif Karakoc-Aydiner; Helen F Matthews; Susan Price; Helen C Su; V Koneti Rao; Michael J Lenardo; Michael B Jordan
Journal:  Science       Date:  2015-07-24       Impact factor: 47.728

3.  Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.

Authors:  Yu Zhang; Xiaomin Yu; Mie Ichikawa; Jonathan J Lyons; Shrimati Datta; Ian T Lamborn; Huie Jing; Emily S Kim; Matthew Biancalana; Lynne A Wolfe; Thomas DiMaggio; Helen F Matthews; Sarah M Kranick; Kelly D Stone; Steven M Holland; Daniel S Reich; Jason D Hughes; Huseyin Mehmet; Joshua McElwee; Alexandra F Freeman; Hudson H Freeze; Helen C Su; Joshua D Milner
Journal:  J Allergy Clin Immunol       Date:  2014-02-28       Impact factor: 10.793

4.  Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects.

Authors:  Polina Stepensky; Baerbel Keller; Mary Buchta; Anne-Kathrin Kienzler; Orly Elpeleg; Raz Somech; Sivan Cohen; Idit Shachar; Lisa A Miosge; Michael Schlesier; Ilka Fuchs; Anselm Enders; Hermann Eibel; Bodo Grimbacher; Klaus Warnatz
Journal:  J Allergy Clin Immunol       Date:  2013-02       Impact factor: 10.793

5.  Identifying the MAGUK protein Carma-1 as a central regulator of humoral immune responses and atopy by genome-wide mouse mutagenesis.

Authors:  Jesse E Jun; Lauren E Wilson; Carola G Vinuesa; Sylvie Lesage; Mathieu Blery; Lisa A Miosge; Matthew C Cook; Edyta M Kucharska; Hiromitsu Hara; Josef M Penninger; Heather Domashenz; Nancy A Hong; Richard J Glynne; Keats A Nelms; Christopher C Goodnow
Journal:  Immunity       Date:  2003-06       Impact factor: 31.745

6.  Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency.

Authors:  Johann Greil; Tobias Rausch; Thomas Giese; Obul R Bandapalli; Volker Daniel; Isabelle Bekeredjian-Ding; Adrian M Stütz; Christoph Drees; Susanne Roth; Jürgen Ruland; Jan O Korbel; Andreas E Kulozik
Journal:  J Allergy Clin Immunol       Date:  2013-04-03       Impact factor: 10.793

7.  Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.

Authors:  Atfa Sassi; Sandra Lazaroski; Gang Wu; Stuart M Haslam; Manfred Fliegauf; Fethi Mellouli; Turkan Patiroglu; Ekrem Unal; Mehmet Akif Ozdemir; Zineb Jouhadi; Khadija Khadir; Leila Ben-Khemis; Meriem Ben-Ali; Imen Ben-Mustapha; Lamia Borchani; Dietmar Pfeifer; Thilo Jakob; Monia Khemiri; A Charlotta Asplund; Manuela O Gustafsson; Karin E Lundin; Elin Falk-Sörqvist; Lotte N Moens; Hatice Eke Gungor; Karin R Engelhardt; Magdalena Dziadzio; Hans Stauss; Bernhard Fleckenstein; Rebecca Meier; Khairunnadiya Prayitno; Andrea Maul-Pavicic; Sandra Schaffer; Mirzokhid Rakhmanov; Philipp Henneke; Helene Kraus; Hermann Eibel; Uwe Kölsch; Sellama Nadifi; Mats Nilsson; Mohamed Bejaoui; Alejandro A Schäffer; C I Edvard Smith; Anne Dell; Mohamed-Ridha Barbouche; Bodo Grimbacher
Journal:  J Allergy Clin Immunol       Date:  2014-04-01       Impact factor: 10.793

8.  Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation.

Authors:  David Buchbinder; Jeffrey R Stinson; Diane J Nugent; Lucie Heurtier; Felipe Suarez; Gauthaman Sukumar; Clifton L Dalgard; Cécile Masson; Mélanie Parisot; Yu Zhang; Helen F Matthews; Helen C Su; Anne Durandy; Alain Fischer; Sven Kracker; Andrew L Snow
Journal:  J Allergy Clin Immunol       Date:  2015-04-28       Impact factor: 10.793

Review 9.  The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency.

Authors:  Stuart E Turvey; Anne Durandy; Alain Fischer; Shan-Yu Fung; Raif S Geha; Andreas Gewies; Thomas Giese; Johann Greil; Bärbel Keller; Margaret L McKinnon; Bénédicte Neven; Jacob Rozmus; Jürgen Ruland; Andrew L Snow; Polina Stepensky; Klaus Warnatz
Journal:  J Allergy Clin Immunol       Date:  2014-08       Impact factor: 10.793

10.  Congenital B cell lymphocytosis explained by novel germline CARD11 mutations.

Authors:  Andrew L Snow; Wenming Xiao; Jeffrey R Stinson; Wei Lu; Benjamin Chaigne-Delalande; Lixin Zheng; Stefania Pittaluga; Helen F Matthews; Roland Schmitz; Sameer Jhavar; Stefan Kuchen; Lela Kardava; Wei Wang; Ian T Lamborn; Huie Jing; Mark Raffeld; Susan Moir; Thomas A Fleisher; Louis M Staudt; Helen C Su; Michael J Lenardo
Journal:  J Exp Med       Date:  2012-11-05       Impact factor: 14.307
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  4 in total

Review 1.  Inborn errors of immunity with atopic phenotypes: A practical guide for allergists.

Authors:  Riccardo Castagnoli; Vassilios Lougaris; Giuliana Giardino; Stefano Volpi; Lucia Leonardi; Francesco La Torre; Silvia Federici; Stefania Corrente; Bianca Laura Cinicola; Annarosa Soresina; Caterina Cancrini; Gian Luigi Marseglia; Fabio Cardinale
Journal:  World Allergy Organ J       Date:  2021-02-22       Impact factor: 4.084

2.  A genome-wide association study for harness racing success in the Norwegian-Swedish coldblooded trotter reveals genes for learning and energy metabolism.

Authors:  Brandon D Velie; Kim Jäderkvist Fegraeus; Marina Solé; Maria K Rosengren; Knut H Røed; Carl-Fredrik Ihler; Eric Strand; Gabriella Lindgren
Journal:  BMC Genet       Date:  2018-08-29       Impact factor: 2.797

Review 3.  The CBM-opathies-A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex.

Authors:  Henry Y Lu; Bradly M Bauman; Swadhinya Arjunaraja; Batsukh Dorjbal; Joshua D Milner; Andrew L Snow; Stuart E Turvey
Journal:  Front Immunol       Date:  2018-09-19       Impact factor: 7.561

4.  Inborn Errors of Immunity Associated With Type 2 Inflammation in the USIDNET Registry.

Authors:  Kelsey L Smith; Darlene Dai; Bhavi P Modi; Rahnuma Sara; Elizabeth Garabedian; Rebecca A Marsh; Jennifer Puck; Elizabeth Secord; Kathleen E Sullivan; Stuart E Turvey; Catherine M Biggs
Journal:  Front Immunol       Date:  2022-02-22       Impact factor: 7.561
  4 in total

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