4.8 Article

Strong inflammatory signatures in the neutrophils of PAMI syndrome

Related references

Note: Only part of the references are listed.
Letter Immunology

PAMI Syndrome: Two Cases of an Autoinflammatory Disease with an ALPS-Like Phenotype

Fionnuala Cox et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2022)

Article Rheumatology

Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1

Deborah L. Stone et al.

Summary: PAPA syndrome is a monogenic autoinflammatory disease associated with elevated levels of IL-18, but not with the risk of MAS.

ARTHRITIS & RHEUMATOLOGY (2022)

Article Allergy

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

Alexandra Laberko et al.

Summary: Allogeneic hematopoietic stem cell transplantation appears to be an effective option in curing cytopenia and severe autoinflammation in PAMI syndrome, and it may offer a curative option for other inflammatory disorders associated with proline-serine-threonine phosphatase-interacting protein 1.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2021)

Article Pediatrics

Hemolysis and Neurologic Impairment in PAMI Syndrome: Novel Characteristics of an Elusive Disease

Giovanni Del Borrello et al.

Summary: PAMI syndrome is a rare autoinflammatory disease with symptoms like chronic neutropenia and pancytopenia. Treatment led to significant improvement in the patient's symptoms and a genetic test confirmed the diagnosis.

PEDIATRICS (2021)

Review Medicine, General & Internal

Kidney Involvement in PSTPIP1 Associated Inflammatory Diseases (PAID): A Case Report and Review of the Literature

Paola Borgia et al.

Summary: PAMI syndrome and PAPA syndrome are two clinical conditions caused by mutations of the PSTPIP1 gene, involving skin and joint symptoms. PAMI is characterized by hepatosplenomegaly, pancytopenia, and growth failure. Long-term treatment with IL-1 inhibitors can effectively control inflammation, but kidney involvement may still occur.

FRONTIERS IN MEDICINE (2021)

Review Immunology

Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood

Tatjana Welzel et al.

Summary: Monogenic IL-1 mediated AID are rare diseases affecting infants and children, characterized by elevated inflammatory markers and organ inflammation. Early diagnosis and targeted treatment are crucial to prevent organ damage, with interdisciplinary team approach necessary for optimal care.

FRONTIERS IN IMMUNOLOGY (2021)

Review Biochemistry & Molecular Biology

Pyroptosis: mechanisms and diseases

Pian Yu et al.

Summary: Pyroptosis has gained attention for its association with innate immunity and diseases. The discovery of the gasdermin family has expanded the research scope of pyroptosis, revealing its potential effects on tumor development. Pyroptosis serves as a double-edged sword in tumors, with the rational utilization of its dual effect providing insights for new drug development and understanding tumor formation and progression.

SIGNAL TRANSDUCTION AND TARGETED THERAPY (2021)

Article Multidisciplinary Sciences

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

Qing Zhou et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)

Article Rheumatology

Elevated serum levels of free interleukin-18 in adult-onset Still's disease

Charlotte Girard et al.

RHEUMATOLOGY (2016)

Article Cell Biology

Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation

Seth L. Masters et al.

SCIENCE TRANSLATIONAL MEDICINE (2016)

Article Multidisciplinary Sciences

ASC filament formation serves as a signal amplification mechanism for inflammasomes

Mathias S. Dick et al.

NATURE COMMUNICATIONS (2016)

Article Rheumatology

Recommendations for the management of autoinflammatory diseases

Nienke M. ter Haar et al.

ANNALS OF THE RHEUMATIC DISEASES (2015)

Article Multidisciplinary Sciences

Cleavage of GSDMD by inflammatory caspases determines pyroptotic cell death

Jianjin Shi et al.

NATURE (2015)

Article Medicine, General & Internal

Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA2

Qing Zhou et al.

NEW ENGLAND JOURNAL OF MEDICINE (2014)

Review Immunology

Caspase-1-induced pyroptotic cell death

Edward A. Miao et al.

IMMUNOLOGICAL REVIEWS (2011)

Article Biochemistry & Molecular Biology

Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants

Je-Wook Yu et al.

MOLECULAR CELL (2007)

Article Multidisciplinary Sciences

The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1β production

Jae Jin Chae et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)

Article Multidisciplinary Sciences

Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway

NG Shoham et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)

Article Biochemistry & Molecular Biology

Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis

N Richards et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2001)