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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Table 1 - Immunological repertoire obtained prior to the onset of anti-IL1B therapy evidencing multiple immune defects (relevant alterations shown in bold)
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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Posted 11 Mar, 2021
Received 08 Apr, 2021
Received 27 Mar, 2021
Received 27 Mar, 2021
Received 26 Mar, 2021
On 24 Mar, 2021
On 24 Mar, 2021
On 16 Mar, 2021
On 13 Mar, 2021
On 13 Mar, 2021
Received 13 Mar, 2021
Received 08 Mar, 2021
On 08 Mar, 2021
On 07 Mar, 2021
Invitations sent on 07 Mar, 2021
On 07 Mar, 2021
On 07 Mar, 2021
On 23 Feb, 2021
Posted 11 Mar, 2021
Received 08 Apr, 2021
Received 27 Mar, 2021
Received 27 Mar, 2021
Received 26 Mar, 2021
On 24 Mar, 2021
On 24 Mar, 2021
On 16 Mar, 2021
On 13 Mar, 2021
On 13 Mar, 2021
Received 13 Mar, 2021
Received 08 Mar, 2021
On 08 Mar, 2021
On 07 Mar, 2021
Invitations sent on 07 Mar, 2021
On 07 Mar, 2021
On 07 Mar, 2021
On 23 Feb, 2021
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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