Literature DB >> 31001706

A Novel CARMIL2 Mutation Resulting in Combined Immunodeficiency Manifesting with Dermatitis, Fungal, and Viral Skin Infections As Well as Selective Antibody Deficiency.

Faranaz Atschekzei1, Roland Jacobs2, Martin Wetzke3, Georgios Sogkas2, Claudia Schröder2, Gerrit Ahrenstorf2, Akshay Dhingra4, Hagen Ott5, Ulrich Baumann3, Reinhold Ernst Schmidt2.   

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Year:  2019        PMID： 31001706     DOI： 10.1007/s10875-019-00628-1

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  7 in total

Review 1.  Primary immunodeficiencies.

Authors:  Luigi D Notarangelo
Journal:  J Allergy Clin Immunol       Date:  2009-12-29       Impact factor: 10.793

2.  Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

Authors:  Yi Wang; Cindy S Ma; Yun Ling; Aziz Bousfiha; Yildiz Camcioglu; Serge Jacquot; Kathryn Payne; Elena Crestani; Romain Roncagalli; Aziz Belkadi; Gaspard Kerner; Lazaro Lorenzo; Caroline Deswarte; Maya Chrabieh; Etienne Patin; Quentin B Vincent; Ingrid Müller-Fleckenstein; Bernhard Fleckenstein; Fatima Ailal; Lluis Quintana-Murci; Sylvie Fraitag; Marie-Alexandra Alyanakian; Marianne Leruez-Ville; Capucine Picard; Anne Puel; Jacinta Bustamante; Stéphanie Boisson-Dupuis; Marie Malissen; Bernard Malissen; Laurent Abel; Alain Hovnanian; Luigi D Notarangelo; Emmanuelle Jouanguy; Stuart G Tangye; Vivien Béziat; Jean-Laurent Casanova
Journal:  J Exp Med       Date:  2016-09-19       Impact factor: 14.307

3.  The scaffolding function of the RLTPR protein explains its essential role for CD28 co-stimulation in mouse and human T cells.

Authors:  Romain Roncagalli; Margot Cucchetti; Nicolas Jarmuzynski; Claude Grégoire; Elise Bergot; Stéphane Audebert; Emilie Baudelet; Marisa Goncalves Menoita; Anais Joachim; Stéphane Durand; Miloslav Suchanek; Frédéric Fiore; Lichen Zhang; Yinming Liang; Luc Camoin; Marie Malissen; Bernard Malissen
Journal:  J Exp Med       Date:  2016-09-19       Impact factor: 14.307

4.  A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.

Authors:  Hanne S Sorte; Liv T Osnes; Børre Fevang; Pål Aukrust; Hans C Erichsen; Paul H Backe; Tore G Abrahamsen; Ole B Kittang; Torstein Øverland; Shalini N Jhangiani; Donna M Muzny; Magnus D Vigeland; Pubudu Samarakoon; Tomasz Gambin; Zeynep H C Akdemir; Richard A Gibbs; Olaug K Rødningen; Robert Lyle; James R Lupski; Asbjørg Stray-Pedersen
Journal:  Mol Genet Genomic Med       Date:  2016-09-17       Impact factor: 2.183

5.  International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.

Authors:  Capucine Picard; H Bobby Gaspar; Waleed Al-Herz; Aziz Bousfiha; Jean-Laurent Casanova; Talal Chatila; Yanick J Crow; Charlotte Cunningham-Rundles; Amos Etzioni; Jose Luis Franco; Steven M Holland; Christoph Klein; Tomohiro Morio; Hans D Ochs; Eric Oksenhendler; Jennifer Puck; Mimi L K Tang; Stuart G Tangye; Troy R Torgerson; Kathleen E Sullivan
Journal:  J Clin Immunol       Date:  2017-12-11       Impact factor: 8.317

6.  A human immunodeficiency syndrome caused by mutations in CARMIL2.

Authors:  T Schober; T Magg; M Laschinger; M Rohlfs; N D Linhares; J Puchalka; T Weisser; K Fehlner; J Mautner; C Walz; K Hussein; G Jaeger; B Kammer; I Schmid; M Bahia; S D Pena; U Behrends; B H Belohradsky; C Klein; F Hauck
Journal:  Nat Commun       Date:  2017-01-23       Impact factor: 14.919

7.  Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency.

Authors:  Anas M Alazami; Maryam Al-Helale; Safa Alhissi; Bandar Al-Saud; Huda Alajlan; Dorota Monies; Zeeshan Shah; Mohamed Abouelhoda; Rand Arnaout; Hasan Al-Dhekri; Nouf S Al-Numair; Hazem Ghebeh; Farrukh Sheikh; Hamoud Al-Mousa
Journal:  Front Immunol       Date:  2018-02-09       Impact factor: 7.561
  7 in total
  9 in total

1.  CARMIL2-related immunodeficiency manifesting with photosensitivity.

Authors:  Leila H Shayegan; Maria C Garzon; Kimberly D Morel; Rachel Borlack; Patricia M Vuguin; Kara G Margolis; Yesim Y Demirdag; Elaine M Pereira; Christine T Lauren
Journal:  Pediatr Dermatol       Date:  2020-04-27       Impact factor: 1.588

Review 2.  Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis.

Authors:  Vivien Béziat
Journal:  Hum Genet       Date:  2020-05-20       Impact factor: 4.132

3.  Diagnostic Yield and Therapeutic Consequences of Targeted Next-Generation Sequencing in Sporadic Primary Immunodeficiency.

Authors:  Georgios Sogkas; Natalia Dubrowinskaja; Katharina Schütz; Lars Steinbrück; Jasper Götting; Nicolaus Schwerk; Ulrich Baumann; Bodo Grimbacher; Torsten Witte; Reinhold E Schmidt; Faranaz Atschekzei
Journal:  Int Arch Allergy Immunol       Date:  2021-10-07       Impact factor: 2.749

Review 4.  The Pathogenesis of Giant Condyloma Acuminatum (Buschke-Lowenstein Tumor): An Overview.

Authors:  Dorota Purzycka-Bohdan; Roman J Nowicki; Florian Herms; Jean-Laurent Casanova; Sébastien Fouéré; Vivien Béziat
Journal:  Int J Mol Sci       Date:  2022-04-20       Impact factor: 6.208

5.  Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation.

Authors:  O Toker; M Berger; O Shamriz; A J Simon; A Lev; O Megged; O Ledder; E Picard; L Joseph; V Molho-Pessach; Y Tal; P Millman; M Slae; R Somech
Journal:  Clin Exp Immunol       Date:  2020-04-18       Impact factor: 4.330

6.  Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers.

Authors:  Giuseppe Marangi; Simone Garcovich; Gabriele Di Sante; Daniela Orteschi; Silvia Frangella; Franco Scaldaferri; Maurizio Genuardi; Ketty Peris; Fiorella Gurrieri; Marcella Zollino
Journal:  Acta Derm Venereol       Date:  2020-01-23       Impact factor: 3.875

7.  A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors.

Authors:  Jennifer R Yonkof; Ajay Gupta; Cesar M Rueda; Shamlal Mangray; Benjamin T Prince; Hemalatha G Rangarajan; Mohammad Alshahrani; Elizabeth Varga; Timothy P Cripe; Roshini S Abraham
Journal:  Front Immunol       Date:  2020-06-18       Impact factor: 7.561

Review 8.  Novel Genetic Discoveries in Primary Immunodeficiency Disorders.

Authors:  Margaret T Redmond; Rebecca Scherzer; Benjamin T Prince
Journal:  Clin Rev Allergy Immunol       Date:  2022-01-12       Impact factor: 10.817

9.  Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.

Authors:  Mara Cananzi; Aleixo M Muise; Luca Bosa; Vritika Batura; Davide Colavito; Karoline Fiedler; Paola Gaio; Conghui Guo; Qi Li; Antonio Marzollo; Claudia Mescoli; Ryusuke Nambu; Jie Pan; Giorgio Perilongo; Neil Warner; Shiqi Zhang; Daniel Kotlarz; Christoph Klein; Scott B Snapper; Thomas D Walters; Alberta Leon; Anne M Griffiths
Journal:  Sci Rep       Date:  2021-03-15       Impact factor: 4.379
  9 in total

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