Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)–associated inflammatory diseases

Holzinger, Dirk; Fassl, Selina Kathleen; Jager, Wilco de; Lohse, Peter; Röhrig, Ute F.; Gattorno, Marco; Omenetti, Alessia; Chiesa, Sabrina; Schena, Francesca; Austermann, Judith; Vogl, Thomas J.; Kuhns, Douglas B.; Holland, Steven M.; Rodríguez-Gallego, Carlos; Almaraz, Ricardo López; Aróstegui, Juan I.; Colino, Elena; Roldán, Rosa; Fessatou, Smaragdi; Isidor, Bertrand; Poignant, Sylvaine; Ito, Koichi; Epple, Hans Joerg; Bernstein, Jonathan A.; Jeng, Michael; Frankovich, Jennifer; Lionetti, Geraldina; Church, Joseph A.; Ong, Peck Y.; LaPlant, Mona M.; Abinun, Mario; Skinner, Rod; Bigley, Venetia; Sachs, Ulrich J.; Hinze, Claas; Hoppenreijs, Esther; Ehrchen, Jan; Foell, Dirk; Chae, Jae Jin; Ombrello, Amanda K.; Aksentijevich, Ivona; Sunderköetter, Cord; Roth, Johannes

doi:10.1016/j.jaci.2015.04.016

Cited by 102 publications

(166 citation statements)

References 53 publications

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“…The patient exhibited SLE‐like symptoms, including hepatosplenomegaly without typical PAPA syndrome‐like symptoms, such as acne or pyoderma of the skin. The findings in this patient were retrospectively considered somewhat compatible with a diagnosis of Hz/Hc, and the PSTPIP1 p.E250K mutation has also been reported to cause autoinflammatory disease with Hz/Hc …”

Section: Discussionsupporting

confidence: 55%

“…The mutation identified in our case, E250K, is typical of PAPA. Patients with hyperzincemia and hypercalprotectinemia (Hz/Hc) have persistent early‐onset inflammatory disease, characterized by cutaneous inflammation, hepatosplenomegaly, failure to thrive, lymphadenopathy, arthritis, neutropenia, anemia, and thrombocytopenia . The patient exhibited SLE‐like symptoms, including hepatosplenomegaly without typical PAPA syndrome‐like symptoms, such as acne or pyoderma of the skin.…”

Section: Discussionmentioning

confidence: 99%

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Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation

Takagi

Hoshino

Yoshida

et al. 2017

Pediatric Blood & Cancer

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Autoimmune diseases in children are rare and can be difficult to diagnose. Single causative genes have been identified for some pediatric autoimmune diseases. Such orphan diseases may not be diagnosed properly due to the variability of patients' phenotypes. Guidelines for the diagnostic process need to be developed. Fifteen patients with uncharacterized childhood autoimmune diseases with lymphoproliferation that had negative testing for autoimmune lymphoproliferative syndrome were subjected to whole-exome sequencing to identify genes associated with these conditions. Five causative genes, CTLA4, STAT3, TNFAIP3, IKZF1, and PSTPIP1, were identified. These genes should be considered as candidates for uncharacterized childhood autoimmune diseases with lymphoproliferation.

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Section: Discussionsupporting

confidence: 55%

Section: Discussionmentioning

confidence: 99%

Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation

Takagi

Hoshino

Yoshida

et al. 2017

Pediatric Blood & Cancer

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“…The name of this disease is not ‘FMF’ or ‘atypical FMF’ despite the fact that there are MEFV mutations—but ‘PAAND’. Similar approach may be applied in the case of PSTPIP1 with the new mutation and different clinical presentation 69. We suggest here a ‘roof’ name: PSTPIP1 -associated AIDs with two subtypes: PAPA and PAMI ( PSTPIP1 -associated myeloid-related proteinaemia inflammatory syndrome).…”

Section: Discussionmentioning

confidence: 94%

Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study

et al. 2018

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Autoinflammatory diseases (AIDs) are a relatively new family of disorders, defined about 19 years ago. Some of them are hereditary and some are not. The names given to these diseases do not follow any systematic guidelines, and sometimes the same disorder carries several names. The aim of this study is to refine the definition of AIDs and to provide some conventions for their naming. We focused mainly on monogenetic AIDs. Delphi technique, which enables consensus among a group of experts through internet and mail communication and questionnaires, was employed. After achieving 100% consensus among six members of a steering committee, the questionnaire containing AID definitions and the agreed-upon conventions were sent to 26 physicians and researchers working in the field of AIDs in order to gain broader support for the committee's proposals. The committee proposed the following definition for AIDs: "Autoinflammatory diseases are clinical disorders caused by defect(s) or dysregulation of the innate immune system, characterized by recurrent or continuous inflammation (elevated acute phase reactants-APR) and the lack of a primary pathogenic role for the adaptive immune system (autoreactive T-cells or autoantibody production)." Several rules were defined for guiding the naming of these diseases among which are: abandoning eponyms and preferring the name of the gene over its encoded protein. The new definition for AIDs allows inclusion of clinical disorders mainly associated with defects in the innate immune system. The new conventions propose names with clinical meaning and in some cases even clues for treatment.

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“…Holzinger et al 57 found heterozygous mutations in the gene proline/serine/threonine phosphatase interacting protein 1 (PSTPIP1) in patients with the rare syndrome hypercalprotectinemia/hyperzincemia. PSTPIP1 deficiency had been known to cause pyogenic arthritis, pyoderma, and acne (PAPA) syndrome, when mutations disrupt its interaction with inflammatory mediators such as pyrin.…”

Section: Newly Described Primary Immunodeficienciesmentioning

confidence: 99%

Advances in clinical immunology in 2015

Chinen

Notarangelo

Shearer

2016

Journal of Allergy and Clinical Immunology

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Advances in clinical immunology in the past year included the report of practice parameters for the diagnosis and management of primary immune deficiencies (PIDs) to guide the clinician in the approach to these relatively uncommon disorders. We have learned of new gene defects causing immunodeficiency and of new phenotypes expanding the spectrum of conditions caused by mutations found in one gene, such as a specific RTEL1 mutation causing isolated NK cell deficiency, and mutations in RAB27 resulting in immunodeficiency without albinism. Advances in diagnosis included the increasing use of whole exome sequencing to identify gene defects, and the measurement of serum free light chains to identify secondary hypogammaglobulinemias. For several PIDs, improved outcomes have been reported after definitive therapy with hematopoietic stem cell transplantation and gene therapy.

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Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)–associated inflammatory diseases

Cited by 102 publications

References 53 publications

Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation

Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation

Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study

Advances in clinical immunology in 2015

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