Literature DB >> 31709449

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

Giuseppe Marangi1, Simone Garcovich, Gabriele Di Sante, Daniela Orteschi, Silvia Frangella, Franco Scaldaferri, Maurizio Genuardi, Ketty Peris, Fiorella Gurrieri, Marcella Zollino.   

Abstract

Entities:  

Keywords:  CARMIL2; RLTPR; dermatitis; eosinophilic gastroenteritis; immunological deficiency syndromes

Mesh：

Substances：

Year:  2020        PMID： 31709449      PMCID： PMC9128914          DOI： 10.2340/00015555-3370

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   3.875


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  15 in total

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

Authors:  Faranaz Atschekzei; Roland Jacobs; Martin Wetzke; Georgios Sogkas; Claudia Schröder; Gerrit Ahrenstorf; Akshay Dhingra; Hagen Ott; Ulrich Baumann; Reinhold Ernst Schmidt
Journal:  J Clin Immunol       Date:  2019-04-18       Impact factor: 8.317

2.  "Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations.

Authors:  Natália D Linhares; Maíra C M Freire; Raony G C C L Cardenas; Heloísa B Pena; Magda Bahia; Sergio D J Pena
Journal:  Eur J Med Genet       Date:  2017-02-20       Impact factor: 2.708

3.  A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.

Authors:  Alina Kurolap; Orly Eshach Adiv; Liza Konnikova; Lael Werner; Claudia Gonzaga-Jauregui; Maya Steinberg; Vanessa Mitsialis; Adi Mory; Moran Y Nunberg; Sarah Wall; Ron Shaoul; John D Overton; Alan R Shuldiner; Yaniv Zohar; Tamar Paperna; Scott B Snapper; Dror S Shouval; Hagit Baris Feldman
Journal:  J Clin Immunol       Date:  2019-05-11       Impact factor: 8.317

4.  Identification, expression analysis and polymorphism of a novel RLTPR gene encoding a RGD motif, tropomodulin domain and proline/leucine-rich regions.

Authors:  Yasunari Matsuzaka; Koichi Okamoto; Tomotaka Mabuchi; Mariko Iizuka; Akira Ozawa; Akira Oka; Gen Tamiya; Jerzy K Kulski; Hidetoshi Inoko
Journal:  Gene       Date:  2004-12-22       Impact factor: 3.688

5.  Cell Migration and Invadopodia Formation Require a Membrane-binding Domain of CARMIL2.

Authors:  M Hunter Lanier; Patrick McConnell; John A Cooper
Journal:  J Biol Chem       Date:  2015-11-17       Impact factor: 5.157

6.  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

7.  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

8.  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

Review 9.  Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Diseases: Current Status and Future Perspectives.

Authors:  Riccardo Castagnoli; Ottavia Maria Delmonte; Enrica Calzoni; Luigi Daniele Notarangelo
Journal:  Front Pediatr       Date:  2019-08-08       Impact factor: 3.418

10.  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
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  4 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.  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

4.  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
  4 in total

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