Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2 ): Striking clinical phenotypic overlap and difference-Reference-Cited by-同舟云学术

Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2 ): Striking clinical phenotypic overlap and difference

Published:2021-03-02 Issue:4 Volume:9 Page:2023-2031
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Kutukculer Necil¹^ORCID,Topyildiz Ezgi²^ORCID,Berdeli Afig¹,Guven Bilgin Burcu¹^ORCID,Aykut Ayca³^ORCID,Durmaz Asude³^ORCID,Cogulu Ozgur³^ORCID,Aksu Guzide¹^ORCID,Edeer Karaca Neslihan¹^ORCID

Affiliation:

1. Ege University Faculty of Medicine Department of Pediatric Immunology and Rheumatology Izmir Turkey

2. Ege University Faculty of Medicine Department of Pediatric Allergy and Immunology Izmir Turkey

3. Ege University Faculty of Medicine Department of Medical Genetics Izmir Turkey

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.3934

Reference22 articles.

1. A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases

2. Cold Urticaria, Immunodeficiency, and Autoimmunity Related toPLCG2Deletions

3. A Hypermorphic Missense Mutation in PLCG2 , Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency

4. Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

5. Acquired cold urticaria vs. autoinflammatory diseases, genetic and clinical profile and differential diagnosis: study of a cohort of patients in a tertiary reference centre;Deza G;Act Derm Venereol,2019

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