Varaico: Literature-Extracted Genetic Variants

Gene:PSTPIP1
Variant:p.G403R
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PSTPIP1

NM_003978.5:p.G403R

Associated Papers

Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.

Oprea Y et al.

American Journal of Clinical Dermatology, 2024

Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa.

Morales-Heil DJ et al.

Hgg Advances, 2023

The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.

La Bella S et al.

Frontiers in Immunology, 2023

Clinical and genetic characteristics of PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome.

Zhang D et al.

Pediatric Rheumatology Online Journal, 2021

PAMI syndrome: A rare cause that can be easily misdiagnosed.

Xu XM et al.

American Journal of Medical Genetics. Part A, 2021

Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome in a Chinese family: A case report and review of literature.

Lu LY et al.

World Journal of Clinical Cases, 2021

HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome.

Laberko A et al.

The Journal of Allergy and Clinical Immunology, 2021

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

Case Report: Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne: A Single-Center Experience and Literature Review.

Wang Y et al.

Frontiers in Immunology, 2021

Genetic architecture of acne vulgaris.

Lichtenberger R et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017

Alarming consequences - autoinflammatory disease spectrum due to mutations in proline-serine-threonine phosphatase-interacting protein 1.

Holzinger D et al.

Current Opinion in Rheumatology, 2016

Pyoderma gangrenosum, acne and ulcerative colitis in a patient with a novel mutation in the PSTPIP1 gene.

Zeeli T et al.

Clinical and Experimental Dermatology, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."