Distinct Cutaneous Manifestations and Cold-Induced Leukocyte Activation Associated With PLCG2 Mutations

JAMA Dermatology
Oyinade M AderibigbeJoshua D Milner

Abstract

PLCG2-associated antibody deficiency and immune dysregulation (PLAID) is a newly characterized immunodeficiency syndrome associated with distinct cutaneous features. Awareness of the cutaneous skin findings associated with PLAID may facilitate diagnosis and improve patient care. To characterize the cutaneous manifestations of PLAID and identify potential cellular mechanisms of the disease. In this retrospective analysis of patients with PLAID and PLAID-like disease evaluated at the National Institutes of Health from January 1, 2005, through December 31, 2014, patients with deletions in PLCG2 leading to PLAID and patients with PLAID-like disease for whom a PLAID mutation was not identified were studied. Characterization of cutaneous manifestations of PLAID and PLAID-like disease and analysis of PLAID immune cell activation. Among 36 patients with PLAID and PLAID-like phenotypes, all of whom had evaporative cold urticaria, 8 patients had a history of unique neonatal-onset ulcerative and cutaneous lesions in cold-sensitive regions of the body. Granulomatous skin lesions sparing warm regions (eg, flexural surfaces and skinfolds) were identified in 4 patients. Neutrophils and monocytes from patients with PLAID exhibited enhanced bas...Continue Reading

Citations

Jul 8, 2015·Annales de dermatologie et de vénéréologie·O Dereure
Sep 16, 2015·The Journal of Allergy and Clinical Immunology·Francisco A BonillaJames W Verbsky
Sep 20, 2015·Current Opinion in Immunology·Klaus BønnelykkeJoshua D Milner
Aug 19, 2015·Journal of the American Academy of Dermatology·Dominique C PichardEdward W Cowen
Jan 25, 2018·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Xinguo LuShaoliang Peng
Mar 15, 2018·International Immunology·Ann Marie Szymanski, Michael J Ombrello
Dec 6, 2017·Indian Dermatology Online Journal·Dhrubajyoti SharmaSurjit Singh
Jul 25, 2015·Journal of Clinical Immunology·Joshua D Milner
Aug 30, 2019·Journal of the European Academy of Dermatology and Venereology : JEADV·Edna Morán-VillaseñorMaría Teresa García-Romero
Oct 22, 2019·Pediatric Dermatology·James SheaSarah Chamlin
Mar 4, 2020·Annual Review of Immunology·Joshua D Milner
Feb 16, 2019·Frontiers in Immunology·David B Beck, Ivona Aksentijevich
Nov 19, 2019·Frontiers in Immunology·Ignasi Figueras-NartJosé Hernández-Rodríguez
Mar 20, 2018·The Journal of Experimental Medicine·Jonathan J Lyons, Joshua D Milner
Oct 20, 2020·Giornale Italiano Di Dermatologia E Venereologia : Organo Ufficiale, Società Italiana Di Dermatologia E Sifilografia·Irene Latour-Álvarez, Antonio Torrelo
Jan 30, 2021·Skin Research and Technology : Official Journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)·Carmen Gómez Martín, Gorka Martínez Grau
Jan 7, 2021·International Journal of Molecular Sciences·Boguslaw NedoszytkoPeter Valent
Feb 25, 2021·Clinical and Experimental Dermatology·R MahajanB D Radotra
Jun 23, 2021·The Journal of Biological Chemistry·Jacob T JacksonSeth L Masters
Jun 19, 2021·The World Allergy Organization Journal·Mario Sánchez-BorgesJose Antonio Ortega Martell
Aug 8, 2021·Diagnostics·Thomas El JammalPascal Sève

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

The New England Journal of Medicine
Michael J OmbrelloJoshua D Milner
Annals of the New York Academy of Sciences
John T Potts
JAMA : the Journal of the American Medical Association
E Gordis
JAMA : the Journal of the American Medical Association
B Healy
© 2021 Meta ULC. All rights reserved