SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.

Severe combined immunodeficiency, SCID, is a pediatric emergency that represents the most critical group of inborn errors of immunity (IEI). Affected infants present with early onset life-threatening infections due to absent or non-functional T cells. Without early diagnosis and curative treatment, most die in early infancy. As most affected infants appear healthy at birth, newborn screening (NBS) is essential to identify and treat patients before the onset of symptoms. Here, we report 47 Brazilian patients investigated between 2009 and 2020 for SCID due to either a positive family history and/or clinical impression and low TRECs. Based on clinical presentation, laboratory finding, and genetic information, 24 patients were diagnosed as typical SCID, 14 as leaky SCID, and 6 as Omenn syndrome; 2 patients had non-SCID IEI, and 1 remained undefined. Disease onset median age was 2 months, but at the time of diagnosis and treatment, median ages were 6.5 and 11.5 months, respectively, revealing considerable delay which affected negatively treatment success. While overall survival was 51.1%, only 66.7% (30/45) lived long enough to undergo hematopoietic stem-cell transplantation, which was successful in 70% of cases. Forty-three of 47 (91.5%) patients underwent genetic testing, with a 65.1% success rate. Even though our patients did not come from the NBS programs, the diagnosis of SCID improved in Brazil during the pilot programs, likely due to improved medical education. However, we estimate that at least 80% of SCID cases are still missed. NBS-SCID started to be universally implemented in the city of São Paulo in May 2021, and it is our hope that other cities will follow, leading to early diagnosis and higher survival of SCID patients in Brazil.

Aspectos psicossociais em uma paciente com lupus eritematoso sistemico / Psychosocial aspects in a systemic lupus erythematosus patient

As doenças auto-imune säo tipicamente multifatoriais, inserindo-se nesse espectro de causalidade o estresse e os fatores psicossociais. O presente relato ressalta a importância dos aspectos psicossociais envolvidos nos pacientes portadores de doenças cronicas, principalmente as auto-imunes, tomando como exemplo uma paciente portadora de Lúpus Eritematoso Sistemico (LES). O quadro clinico em estudo compöem-se de perda de peso, alopecia, ulceras orais,eritema facial, alteraçoes de pele, poliartrite, febre, celaleia, convulsoes, comprometimento pulmonar e anemia. Há evidencias da atuaçao de aspectos psicologicos no desenrolar do LES, como: angustia, afastamento do convivio familiar, social e do trabalho, dependencia fisica, observaçao de ato violento com outro paciente e perda dos pais. O fator social, tambem foi um componente integrante das condiçoes que facilitaram o adoecer. Portanto, tendo em vista esses aspectos, é essencial levá-los em conta no momento do diagnostico, da informacao ao paciente sobre sua enfermidade e no decorrer do tratamento, estando o mesmo hospitalizado ou näo