Literature DB >> 32342551

CARMIL2-related immunodeficiency manifesting with photosensitivity.

Leila H Shayegan1, Maria C Garzon2, Kimberly D Morel2, Rachel Borlack3, Patricia M Vuguin4, Kara G Margolis3, Yesim Y Demirdag5, Elaine M Pereira6, Christine T Lauren2.   

Abstract

We report a case of a newly recognized primary immunodeficiency due to biallelic mutations in CARMIL2 manifesting as an actinic prurigo-like photodermatitis, allergic diathesis and recurrent infections in a child. We present this case to highlight a rare phenotype seen in this T-cell immunodeficiency and provide an overview of other dermatologic manifestations among published reports of this condition.
© 2020 Wiley Periodicals, LLC.

Entities:  

Keywords:  eczema; genodermatoses; immunodeficiency

Mesh：

Year:  2020        PMID： 32342551      PMCID： PMC7599087          DOI： 10.1111/pde.14173

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN： 0736-8046            Impact factor:   1.588


  11 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.  CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease.

Authors:  Thomas Magg; Anna Shcherbina; Duran Arslan; Mukesh M Desai; Sarah Wall; Vanessa Mitsialis; Raffaele Conca; Ekrem Unal; Neslihan Karacabey; Anna Mukhina; Yulia Rodina; Prasad D Taur; David Illig; Benjamin Marquardt; Sebastian Hollizeck; Tim Jeske; Florian Gothe; Tilmann Schober; Meino Rohlfs; Sibylle Koletzko; Eberhard Lurz; Aleixo M Muise; Scott B Snapper; Fabian Hauck; Christoph Klein; Daniel Kotlarz
Journal:  Inflamm Bowel Dis       Date:  2019-10-18       Impact factor: 5.325

Review 3.  Peripheral eosinophilia in primary immunodeficiencies of actin dysregulation: A case series of Wiskott-Aldrich syndrome, CARMIL2 and DOCK8 deficiency and review of the literature.

Authors:  David Kim; Aysegul Uner; Arzu Saglam; Amy Chadburn; Genevieve M Crane
Journal:  Ann Diagn Pathol       Date:  2019-10-05       Impact factor: 2.090

4.  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

5.  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

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.  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

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

9.  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

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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