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Research Article
Leonardo Oliveira Mendonca
Universidade de Sao Paulo
Corresponding Author
ORCiD: https://orcid.org/0000-0001-7533-1937
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This work is licensed under a CC BY 4.0 License. Read Full License
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.
Keywords
PSTPIP1, PAPA syndrome, PAMI syndrome, E250K mutation
Figure 1
Figure 2
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- TablestosubmissionJCI.001.jpeg
Table 1 - Immunological repertoire obtained prior to the onset of anti-IL1B therapy evidencing multiple immune defects (relevant alterations shown in bold)
- TablestosubmissionJCI.002.jpeg
Table 2 – FOXP3 expression prior to initiation of anti-IL1 therapy in comparison to a patient with SIFD syndrome. Notable high expression of FOXP3 in the CD4 compartment seen in patient with PAMI syndrome compared to another patient with SIFD.
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CURRENT STATUS: Under Review
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Posted 11 Mar, 2021
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Review #5 received
Received 08 Apr, 2021
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Received 27 Mar, 2021
Review #3 received
Received 27 Mar, 2021
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Received 26 Mar, 2021
Reviewer #6 agreed
On 24 Mar, 2021
Reviewer #5 agreed
On 24 Mar, 2021
Reviewer #4 agreed
On 16 Mar, 2021
Reviewer #3 agreed
On 13 Mar, 2021
Reviewer #2 agreed
On 13 Mar, 2021
Review #1 received
Received 13 Mar, 2021
Review #? received
Received 08 Mar, 2021
Reviewer #1 agreed
On 08 Mar, 2021
Editor assigned
On 07 Mar, 2021
Reviewers invited
Invitations sent on 07 Mar, 2021
Submission checks complete
On 07 Mar, 2021
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On 07 Mar, 2021
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This preprint is under consideration at Pediatric Rheumatology. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research Article
Leonardo Oliveira Mendonca
Universidade de Sao Paulo
Corresponding Author
ORCiD: https://orcid.org/0000-0001-7533-1937
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Under Review
Version 1
Posted 11 Mar, 2021
No community comments so far
Review #5 received
Received 08 Apr, 2021
Review #2 received
Received 27 Mar, 2021
Review #3 received
Received 27 Mar, 2021
Review #4 received
Received 26 Mar, 2021
Reviewer #6 agreed
On 24 Mar, 2021
Reviewer #5 agreed
On 24 Mar, 2021
Reviewer #4 agreed
On 16 Mar, 2021
Reviewer #3 agreed
On 13 Mar, 2021
Reviewer #2 agreed
On 13 Mar, 2021
Review #1 received
Received 13 Mar, 2021
Review #? received
Received 08 Mar, 2021
Reviewer #1 agreed
On 08 Mar, 2021
Editor assigned
On 07 Mar, 2021
Reviewers invited
Invitations sent on 07 Mar, 2021
Submission checks complete
On 07 Mar, 2021
Editor invited
On 07 Mar, 2021
First submitted
On 23 Feb, 2021
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
License:
This work is licensed under a CC BY 4.0 License. Read Full License
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.
Figure 1
Figure 2
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