Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases

Boursier, Guilaine; Piram, Maryam; Rittore, Cécile; Sarrabay, Guillaume; Touitou, Isabelle

doi:10.1016/j.jid.2020.08.028

Cited by 19 publications

(13 citation statements)

References 41 publications

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“…Mutations of the PSTPIP1 gene were associated with a large group of inflammatory disorders collected under the term PSTPIP1-associated inflammatory diseases (PAID) (1,2). The clinical spectrum of PAID ranges from a prevalent skin and joint involvement in case of pyogenic arthritis, pyoderma gangrenosum, and acne (pyoderma gangrenosum, acne, pyogenic arthritis, PAPA) syndrome, to more complex phenotypes involving several organs in case of the PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome (3,4).…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2021

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Pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, and the proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated myeloid-related proteinemia inflammatory (PAMI) syndrome are two distinct clinical conditions caused by heterozygous mutations of the PSTPIP1 gene. While skin and joint involvements are shared by both conditions, PAMI is characterized by hepatosplenomegaly, pancytopenia, and growth failure. Kidney involvement is exceptional in PSTPIP1-mediated disorders. The two missense PSTPIP1 variants associated with PAMI syndrome are p.E250K and p.E257K. Long-term treatment with interleukin (IL)-1 inhibitors is effective to control inflammatory manifestations and is usually well-tolerated. We report a case of a patient carrying the PSTPIP1 p.E250K mutation who developed a late-onset kidney involvement despite a long treatment with canakinumab and anakinra. Kidney biopsy showed focal segmental glomerulosclerosis that was treated with tacrolimus (0.1 mg/kg/day in two doses). A literature revision with the aim to assess the proportion and type of kidney involvement in PAMI syndrome revealed that heterogeneous nephropathies may be part of the clinical spectrum. Our study supports the importance of a periodic diagnostic work-up, including kidney laboratory tests and kidney biopsy, in individuals affected with PAMI syndrome. Kidney and liver functions may be impaired regardless of anti-cytokines treatments and additional therapy approaches (i.e., multi-drugs, hematopoietic stem cell transplantation) should be carefully considered.

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Section: Introductionmentioning

confidence: 99%

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

et al. 2021

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“…While other patients typically present hyperzincemia and hyperprolactinemia, these were not seen in the young patient. This nding should be considered highly relevant, as patients lacking these characteristics must also be considered eligible for PSTIPIP1 genetic screening (3,5).…”

Section: Discussionmentioning

confidence: 99%

“…Mutations along the PSTPIP1 gene have been classically associated with PAPA syndrome (OMIM #604410), an autosomal dominant disorder (2). However, speci c heterozygous mutations (E250k and E257K) in this same gene were recently linked to another condition, namely PSTPIP1-associated myeloid-related in ammatory (PAMI) syndrome (3).…”

Section: Introductionmentioning

confidence: 99%

Immunological repertoire linked to PSTPIP1-associated myeloid-related inflammatory (PAMI) syndrome

Mendonça

Terreri

Osaku³

et al. 2021

Preprint

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Background: Mutations along PSTPIP1 gene are associated to two specific conditions, PAPA syndrome and PAMI syndrome, both autoinflammatory disorders associated to disturbances in cytoskeleton formation. Immunological aspects of PAMI syndrome has not yet been reported neither the clinical impact on therapeutical decisions.Methods: Clinical data of patients records were retrospectively accessed. Genomic DNA were extracted and sequenced following standard procedures. Peripheral lymphocytes were quantified in T, B e FOXP3 phenotypes.Results: We describe two related patients with PAMI syndrome harboring the usual E250K mutation. Anti-IL1 therapy could partially control the disease in the index patient. A broad spectrum of immunological effects as well as an aberrant expression of FOXP3 could be observed.Conclusions. Here we report two related brazilian patients with PAMI syndromes harboring the E250K mutation in PSTPIP1, their immunological aspects and the therapeutical response to canakinumab.

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“…The mutation of PSTPIP1 leads to a variety of PAID (reviewed by Boursier et al 99), the most prominent are PAPA73 and PAMI 74 100 101…”

Section: The Pyrin Inflammasome-associated Autoinflammatory Disease (...mentioning

confidence: 99%

Cutaneous signs and mechanisms of inflammasomopathies

et al. 2022

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The emerging group of autoinflammatory diseases (AIDs) is caused by a dysregulation of the innate immune system while lacking the typical footprint of adaptive immunity. A prominent subgroup of AIDs are inflammasomopathies, which are characterised by periodic flares of cutaneous signs as well as systemic organ involvement and fever. The range of possible skin lesions is vast, ranging from urticarial, erysipelas-like and pustular rashes to erythematous patches, violaceous plaques and eventual necrosis and ulceration. This review provides a structured overview of the pathogenesis and the clinical picture with a focus on dermatological aspects of inflammasomopathies. Current treatment options for these conditions are also discussed.

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Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases

Cited by 19 publications

References 41 publications

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

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

Immunological repertoire linked to PSTPIP1-associated myeloid-related inflammatory (PAMI) syndrome

Cutaneous signs and mechanisms of inflammasomopathies

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