Associated Papers
Progressive increase of serum zinc level in a Pediatric patient with PSTPIP1- p.N236K mutation.
Takahashi C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026
Genetic insights into MIS-C Post-COVID-19 in Kuwaiti children: investigating monogenic factors.
Dashti M et al.
Frontiers in Cellular and Infection Microbiology, 2024
Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.
Özkılınç Önen M et al.
Rheumatology (oxford, England), 2023
Comment on: Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.
Zervou MI et al.
Rheumatology (oxford, England), 2023
The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.
La Bella S et al.
Frontiers in Immunology, 2023
PSTPIP1-LYP phosphatase interaction: structural basis and implications for autoinflammatory disorders.
Manso JA et al.
Cellular and Molecular Life Sciences : Cmls, 2022
Immunological repertoire linked to PSTPIP1-associated myeloid-related inflammatory (PAMI) syndrome.
Mendonça LO et al.
Pediatric Rheumatology Online Journal, 2021
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2021
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Karacan İ et al.
Rheumatology International, 2019
Proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) controls immune synapse stability in human T cells.
Janssen WJM et al.
The Journal of Allergy and Clinical Immunology, 2018
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
Nijman IJ et al.
The Journal of Allergy and Clinical Immunology, 2014
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