Since the first description of the syndrome of sideroblastic anemia with immunodeficiency, fevers and development delay (SIFD), clinical pictures lacking both neurological and hematological manifestations have been reported. Moreover, prominent skin involvement, such as with relapsing erythema nodosum, is not a common finding. Up to this moment, no genotype and phenotype correlation could be done, but mild phenotypes seem to be located in the N or C part. B-cell deficiency is a hallmark of SIFD syndrome, and multiple others immunological defects have been reported, but not high levels of double negative T cells. Here we report a Brazilian patient with a novel phenotype of SFID syndrome, carrying multiple immune defects and harboring a novel mutation on TRNT1 gene.

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.

Knowledge about a disease, regardless of its etiology, passes through several spheres and the impact on health is known to be only the most obvious. The pandemic COVID-19, a disease caused by the SARS-CoV2 virus, has proved the resilience of communities around the world, especially in countries underprepared in terms of a variety of aspects such as infrastructure, technology and education. One of the largest economies in the world, Brazil as an emerging country has faced this great challenge. The number of deaths and the economic damage resulting from the pandemic are explicitly worthy of attention by the government, industry and academia. This pandemic proved to Brazil and worldwide how much repercussion a bankruptcy in the health system can bring-there is no perfect health management when it comes to a disease that can also affect those who are not infected by it: the need for confinement and a change in habit has led to food shortages, unemployment and mental disorders. The speed, the way of conveying information and the advent of so-called fake news have increased cases of stress and anxiety about the disease and its consequences. The isolation imposed by the disease was once called Van Hoof's "greatest psychological experiment in the world" (Lima, 2020) [1]. There is an estimate that the psychological impairment generated by COVID-19 is between one third and half of the population if they do not receive adequate care. Obviously, the number of people psychologically affected by the pandemic is greater than the number of people infected by the virus itself. Health professionals and related areas such as drivers, cleaning staff and hospital administration are also classified as groups at mental risk due to the constant fear of infection and death. Unfortunately, despite a pandemic of fear and stress within that generated by the coronavirus, it still lacks numbers that can assess specific population groups. Some measures have been taken in order to

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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