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OBJECTIVES: To evaluate outcomes of oral food challenge (OFC) test to assess tolerance in infants with non-IgE-mediated cow's milk allergy (CMA) with gastrointestinal manifestations and explore clinical data predictive of these outcomes. METHODS: Single-center retrospective study including infants (age < 12 months) who were referred for CMA between 2000 and 2018 and underwent OFC on follow-up. A univariate logistic regression test was performed to evaluate variables associated with the outcomes of the follow-up OFC test. RESULTS: Eighty-two patients were included, 50% were male. Eighteen patients had a positive OFC test (22%). Most patients had presented with hematochezia (77%). The median age of symptom onset was 30 days. Two-thirds of the patients were on appropriate infant formula (extensively hydrolyzed or amino acid-based formula), exclusively or in association with breastfeeding. The median time on an elimination diet before the OFC test was 8 months (Q1 6 - Q3 11 months). All cases with positive follow-up OFC tests (n = 18) had been exposed to cow's milk-based formula before the first clinical manifestation of CMA. Five out of eight cases with Food Protein-Induced Enterocolitis Syndrome (FPIES) had positive OFC tests. Exposure to cow's milk-based formula before diagnosis, a history of other food allergies, hematochezia and diarrhea were predictors of a positive OFC test. CONCLUSIONS: In infants with non-IgE-mediated CMPA with gastrointestinal manifestations, the use of cow's milk-based formula, a history of other food allergies, and hematochezia and diarrhea upon initial presentation were associated factors for the later achievement of tolerance.

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Abstract Objectives To evaluate outcomes of oral food challenge (OFC) test to assess tolerance in infants with non-IgE-mediated cow's milk allergy (CMA) with gastrointestinal manifestations and explore clinical data predictive of these outcomes. Methods Single-center retrospective study including infants (age < 12 months) who were referred for CMA between 2000 and 2018 and underwent OFC on follow-up. A univariate logistic regression test was performed to evaluate variables associated with the outcomes of the follow-up OFC test. Results Eighty-two patients were included, 50% were male. Eighteen patients had a positive OFC test (22%). Most patients had presented with hematochezia (77%). The median age of symptom onset was 30 days. Two-thirds of the patients were on appropriate infant formula (extensively hydrolyzed or amino acid-based formula), exclusively or in association with breastfeeding. The median time on an elimination diet before the OFC test was 8 months (Q1 6 - Q3 11 months). All cases with positive follow-up OFC tests (n= 18) had been exposed to cow's milk-based formula before the first clinical manifestation of CMA. Five out of eight cases with Food Protein-Induced Enterocolitis Syndrome (FPIES) had positive OFC tests. Exposure to cow's milk-based formula before diagnosis, a history of other food allergies, hematochezia and diarrhea were predictors of a positive OFC test. Conclusions In infants with non-IgE-mediated CMPA with gastrointestinal manifestations, the use of cow's milk-based formula, a history of other food allergies, and hematochezia and diarrhea upon initial presentation were associated factors for the later achievement of tolerance.

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Adiponectin and leptin are adipokines, secreted by white adipose tissue (WAT), which play an important role in energy homeostasis. Some evidence has shown that adipokine-producing adipose cells present in the bone marrow (BM) appear to exert an influence on hematopoiesis and B cell development. Common variable immunodeficiency (CVID) is one of the most common inborn errors of immunity in humans. In CVID, numerical and/or functional defects of B cells and their precursors result in hypogammaglobulinemia, usually Immunoglobulin (Ig) A and IgG. Manifestations of CVID include immunodeficiency, autoimmunity, inflammation and lymphoproliferation, resulting in a wide range of phenotypes. How adipokines interact and influence the pathophysiology of CVID is still unclear. In this review, we seek to summarize the aspects known so far concerning the interface between adipokines, B cells and CVID. More research is needed to fully understand these interactions; this knowledge is a potential avenue for the discovery of useful biomarkers and may provide new therapeutic targets for the treatment of patients with CVID and related diseases.

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OBJECTIVE: To describe the development of a website and the creation of a social network account about pediatric allergy/immunology with reliable information, to promote education and have a channel for patient-doctor contact. METHODS: This is a descriptive study. A survey was conducted with 93 patients (12 years and older) and caregivers of a Pediatric Allergy/Immunology outpatient clinic, to assess internet usage patterns of potential users. A webpage in Portuguese and an Instagram® account were launched in which it was created an area for patient-doctor communication in the pandemic context. RESULTS: Among 93 participants, 77% were female, 82% caregivers. Median age was 33.2 years, family income 403 dollars/month. The internet was accessed via smartphone by 81,7% of the participants; 76% reported using internet to access health information but 72% did not trust on the information from the internet, and 96% believed that an institutional site could provide meaningful information. From the website release in November 6, 2018 to January 20, 2022, it was counted 10,062 page views by 4,896 users; 55% were 18-34 years old, 70.2% female. Instagram® account gathered 882 followers. Website went through a period of instability during which access were not counted. Due to social isolation during COVID-19 pandemic, the website served as a tool for first response to help patients and doctors. CONCLUSIONS: Patients and caregivers of the Pediatric Allergy/Immunology service, consulted about digital tools, considered the information supported by a teaching/research institution timely and relevant. The website and Instagram® account have both performed well and shown good return in relation to hits, and results are continuously being evaluated. During COVID-19 pandemic, the website has been connecting patients/families and doctors.

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Abstract Objective: To describe the development of a website and the creation of a social network account about pediatric allergy/immunology with reliable information, to promote education and have a channel for patient-doctor contact. Methods: This is a descriptive study. A survey was conducted with 93 patients (12 years and older) and caregivers of a Pediatric Allergy/Immunology outpatient clinic, to assess internet usage patterns of potential users. A webpage in Portuguese and an Instagram® account were launched in which it was created an area for patient-doctor communication in the pandemic context. Results: Among 93 participants, 77% were female, 82% caregivers. Median age was 33.2 years, family income 403 dollars/month. The internet was accessed via smartphone by 81,7% of the participants; 76% reported using internet to access health information but 72% did not trust on the information from the internet, and 96% believed that an institutional site could provide meaningful information. From the website release in November 6, 2018 to January 20, 2022, it was counted 10,062 page views by 4,896 users; 55% were 18-34 years old, 70.2% female. Instagram® account gathered 882 followers. Website went through a period of instability during which access were not counted. Due to social isolation during COVID-19 pandemic, the website served as a tool for first response to help patients and doctors. Conclusions: Patients and caregivers of the Pediatric Allergy/Immunology service, consulted about digital tools, considered the information supported by a teaching/research institution timely and relevant. The website and Instagram® account have both performed well and shown good return in relation to hits, and results are continuously being evaluated. During COVID-19 pandemic, the website has been connecting patients/families and doctors.

RESUMO Objetivo: Descrever o desenvolvimento de um website e a criação de uma conta em rede social sobre alergologia/imunologia pediátrica com informações confiáveis, para promover educação e ter um canal de contato paciente-médico. Métodos: Trata-se de um estudo descritivo. Um questionário foi aplicado a 93 pacientes (12 anos de idade ou mais) e cuidadores frequentadores de um ambulatório de alergologia/imunologia pediátrica, para abordar o padrão de uso de internet de potenciais usuários. Lançou-se um website em português e uma página no Instagram®, nos quais foi criada, no contexto da pandemia, uma área para comunicação paciente-médico. Resultados: Dos 93 participantes, 77% eram mulheres, 82% cuidadores, com idade mediana de 33,2 anos e renda mensal de 403 dólares. A internet foi acessada via smartphone por 81,7% dos participantes; 76% relataram usar a internet para informações em saúde, mas 72% não confiavam nessa informação, e 96% acreditavam que um site institucional poderia prover informações seguras. Do lançamento do website em 6 de novembro de 2018 até 20 de janeiro de 2022, contabilizaram-se 10.062 visualizações de páginas por 4.896 usuários; 55% tinham idade entre 18 e 34 anos, 70,2% eram mulheres. A página no Instagram® reuniu 882 seguidores. O website apresentou período de instabilidade, sem registrar acessos. Em razão do isolamento social durante a pandemia de COVID-19, o website apresentou-se como ferramenta de primeira linha para auxiliar pacientes e médicos. Conclusões: Pacientes e cuidadores do ambulatório de Alergologia/Imunologia Pediátrica, consultados sobre ferramentas digitais, consideraram as informações fornecidas por uma instituição de ensino/pesquisa como oportunas e relevantes. O website e a página do Instagram® têm apresentado bom desempenho e visualização, e os resultados estão sendo continuamente avaliados. Durante a pandemia de COVID-19, o website tem conectado pacientes/familiares e médicos.

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Objectives: Plasmacytoid dendritic cells (pDCs) have been shown to have a role in autoimmune diseases, but their role in Autoimmune Hepatitis (AIH) is not completely clear. In the present study, we assessed the frequency of pDCs in peripheral blood of AIH patients under long-term standard immunosuppressive therapy. Methods: This cross-sectional analysis enrolled 27 AIH patients and 27 healthy controls. We analyzed and compared their proportion of pDCs, CD4+, CD8+, γδ T cells, CD25+ regulatory T (Treg) cells, FoxP3+, Foxp3+CD39+ Treg cells, total B (CD19+) cells, and plasma cells (CD38+) in peripheral blood using flow cytometry immunophenotyping. Results: AIH patients had a lower percentage of pDCs (median frequencies of 0.2% vs. 0.4%; p = .002) and higher expression of CD8 T cells (32.5% vs 28.6%; p = 0.008) in peripheral blood, when compared to healthy controls. We did not find statistically significant differences between the groups regarding the other cell subtypes.Conclusion: Our data suggest a persistent suppression of pDCs in AIH patients, along with increased CD8 T cell activity, years after AIH diagnosis and despite of good clinical response to treatment, thus pointing to a role of pDCs in the AIH pathogenesis.

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ABSTRACT Objective: To report two patients with very-early-onset inflammatory bowel disease (VEOIBD) secondary to interleukin-10 receptor (IL-10R) mutations, explore immunophenotyping data and plasma cytokine profile on these cases compared to healthy controls, and describe the phenotype of IL-10/IL-10R mutations based on a literature review. Case description: We report on two female infants referred to our tertiary center at the age of ten months, with severe colonic and perianal disease, as well as significant malnutrition, who had shown limited response to usual inflammatory bowel disease (IBD) therapy agents. In the first case, whole-exome sequencing (WES) revealed a homozygous (c.537G>A/p.T179T) mutation in exon 4 of the IL-10RA gene, while in the second patient, compound heterozygosity was identified, also in the IL-10RA gene (chr11:117.859.199 variant A>G/p.Tyr57Cys and chr11: 117.860.335 variant G>T/p.Val123Leu). Both patients underwent hematopoietic cell transplantation (HCT). Immunological work-up of these patients revealed increased IL-10 plasma levels and increased IgA. Comments: Our case reports disclose novel findings on plasma cytokine profile in IL-10R deficiency, and we describe the severe phenotype of IL-10/IL-10R deficiency that should be recognized by physicians.

RESUMO Objetivo: Relatar os casos de duas pacientes com doença inflamatória intestinal de início muito precoce (em inglês VEOIBD) secundária a mutações do receptor de interleucina 10 (IL-10R), explorar dados de imunofenotipagem e perfil de citocinas plasmáticas nesses casos em comparação com indivíduos saudáveis e descrever o fenótipo de mutações IL-10/IL-10R com base em uma revisão da literatura. Descrição do caso: Duas lactentes do sexo feminino foram encaminhadas ao nosso centro terciário, ambas com dez meses no momento do encaminhamento, com doença colônica e perianal grave, bem como desnutrição significativa, tendo uma resposta limitada aos agentes de terapia usuais de doença inflamatória intestinal (DII). No primeiro caso, o sequenciamento completo do exoma revelou mutação homozigótica (c. 537G>A/p.T179T) no exon 4 do gene IL-10RA, enquanto no segundo caso heterozigosidade composta foi identificada também no gene IL-10RA [chr11: 117.859.199 - variante A>G/p.Tyr57Cys e chr11: 117.860.335 - variante G>T/ p.Val123Leu]. Ambas as pacientes foram submetidas a Transplante de Células-Tronco Hematopoiéticas. A investigação imunológica das pacientes revelou aumento dos níveis plasmáticos de IL-10 e aumento da IgA. Comentários: Nossos relatos de casos descrevem novos achados no perfil de citocinas plasmáticas na deficiência de IL-10R, e relatamos o fenótipo grave da deficiência de IL-10/IL-10R que deve ser reconhecido pelos médicos.

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OBJECTIVE: To report two patients with very-early-onset inflammatory bowel disease (VEOIBD) secondary to interleukin-10 receptor (IL-10R) mutations, explore immunophenotyping data and plasma cytokine profile on these cases compared to healthy controls, and describe the phenotype of IL-10/IL-10R mutations based on a literature review. CASE DESCRIPTION: We report on two female infants referred to our tertiary center at the age of ten months, with severe colonic and perianal disease, as well as significant malnutrition, who had shown limited response to usual inflammatory bowel disease (IBD) therapy agents. In the first case, whole-exome sequencing (WES) revealed a homozygous (c.537G>A/p.T179T) mutation in exon 4 of the IL-10RA gene, while in the second patient, compound heterozygosity was identified, also in the IL-10RA gene (chr11:117.859.199 variant A>G/p.Tyr57Cys and chr11: 117.860.335 variant G>T/p.Val123Leu). Both patients underwent hematopoietic cell transplantation (HCT). Immunological work-up of these patients revealed increased IL-10 plasma levels and increased IgA. COMMENTS: Our case reports disclose novel findings on plasma cytokine profile in IL-10R deficiency, and we describe the severe phenotype of IL-10/IL-10R deficiency that should be recognized by physicians.

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BACKGROUND: Glycogen storage disease (GSD) type 1b is a multisystemic disease in which immune and infectious complications are present, in addition to the well-known metabolic manifestations of GSD. Treatment with granulocyte-colony stimulating factor (G-CSF) is often indicated in the management of neutropenia and inflammatory bowel disease. OBJECTIVE: To report on the demographics, genotype, clinical presentation, management, and complications of pediatric patients with glycogen storage disease type 1b (GSD 1b), with special attention to immune-related complications. METHODS: Retrospective case series of seven patients with GSD 1b diagnosed and followed at a tertiary university hospital in Brazil, from July/2000 until July/2016. RESULTS: Mean age at referral was fourteen months. Diagnosis of GSD 1b was based on clinical and laboratory findings and supported by genetic studies in five cases. All patients presented suffered from neutropenia, managed with G-CSF - specifically Filgrastim. Hospitalizations for infections were frequent. Two patients developed inflammatory bowel disease. Six patients remained alive, one died at age 14 years and 9 months. The mean age at the end of the follow-up was 11.5 years. Compliance to treatment was suboptimal: poor compliance to medications, starch and dietetic management of GSD were documented, and outpatient appointments were frequently missed. CONCLUSION: Managing GSD 1b is challenging not only for the chronic and multisystemic nature of this disease, but also for the additional demands related dietary restrictions, use of multiple medications and the need for frequent follow-up visits; furthermore in Brazil, the difficulties are increased in a scenario where we frequently care for patients with unfavorable socioeconomic status and with irregular supply of medications in the public health system.

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ABSTRACT Objective: To discuss aspects of pre and post-operative otorhinolaryngology surgery in patients with glycogen storage disease type 1b. Case description: Description of three clinical cases with probable glycogen storage disease type 1b who underwent otorhinolaryngology surgery, showing the importance of multidisciplinary interaction to avoid episodes of hypoglycemia. Comments: Patients with glycogen storage disease type 1b present recurrent infections, including the otorhinolaryngology affections. When there is an indication for surgical treatment, the caloric intake should be carefully followed in order to prevent hypoglycemia. The way to ensure this is to perform the pre and postoperative period in the hospital ward. In the postoperative period, it is important to make a slow transition between the intravenous and oral routes and not suspend the infusion of glucose during the surgical procedure. The cases illustrate the need for the interaction of the otorhinolaryngologic surgeon with the anesthesiologist, the pediatrician and the gastro-pediatrician in the management of these patients, avoiding hypoglycemic episodes.

RESUMO Objetivo: Discutir aspectos de pré e pós-operatório de cirurgia otorrinolaringológica em pacientes com glicogenose tipo 1b. Descrição do caso: Descrição de três casos clínicos com provável glicogenose tipo 1b, que se submeteram à cirurgia otorrinolaringológica, mostrando a importância da interação multidisciplinar para evitar os episódios de hipoglicemia. Comentários: Pacientes com glicogenose tipo 1b apresentam infecções de repetição, incluindo as otorrinolaringológicas. Quando há indicação de tratamento cirúrgico, deve-se observar a garantia de aporte calórico para evitar hipoglicemia. A maneira de fazer isso é efetuar o pré e pós-operatório em enfermaria, tomando-se o cuidado, no pós-operatório, de realizar uma transição lenta entre a via endovenosa e a via oral e de não suspender a infusão de glicose durante o procedimento cirúrgico. Os casos ilustram a necessidade da interação do otorrinolaringologista com o anestesista, o pediatra e o gastropediatra na condução desses pacientes para que não desenvolvam hipoglicemia.

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