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CD40 ligand (CD40L) deficiency is a rare inborn error of immunity presenting with heterogeneous clinical manifestations. While a detailed characterization of patients affected by CD40L deficiency is essential to an accurate diagnosis and management, information about this disorder in Latin American patients is limited. We retrospectively analyzed data from 50 patients collected by the Latin American Society for Immunodeficiencies registry or provided by affiliated physicians to characterize the clinical, laboratory, and molecular features of Latin American patients with CD40L deficiency. The median age at disease onset and diagnosis was 7 months and 17 months, respectively, with a median diagnosis delay of 1 year. Forty-seven patients were genetically characterized revealing 6 novel mutations in the CD40LG gene. Pneumonia was the most common first symptom reported (66%). Initial immunoglobulin levels were variable among patients. Pneumonia (86%), upper respiratory tract infections (70%), neutropenia (70%), and gastrointestinal manifestations (60%) were the most prevalent clinical symptoms throughout life. Thirty-five infectious agents were reported, five of which were not previously described in CD40L deficient patients, representing the largest number of pathogens reported to date in a cohort of CD40L deficient patients. The characterization of the largest cohort of Latin American patients with CD40L deficiency adds novel insights to the recognition of this disorder, helping to fulfill unmet needs and gaps in the diagnosis and management of patients with CD40L deficiency.

Background: Acquired deficiency of C1 inhibitor (AAE-C1-INH) is a very rare cause of recurrent angioedema, with few cases reported in the literature. We aimed to describe a series of patients with AAE-C1-INH who were diagnosed and received care at angioedema reference centers in Brazil, affiliated to the Brazilian Group of Studies on Hereditary Angioedema. Methods: Fourteen patients from 8 Brazilian Angioedema Reference Centers, diagnosed with AAE-C1-INH, were included in this study. Clinical data collected included sex, date of birth, date of onset of symptoms, date of diagnosis, plasma levels of antigenic and/or functional C1-INH, levels of C4 and C1q, location and treatment of angioedema attacks, long-term prophylaxis, associated diseases, and definitive treatment. Results: Fourteen patients were identified with AAE-C1-INH. Most patients (10/14; 71.4%) were female. The median age at onset of symptoms was 56.5 years (range, 14–74 years; interquartile range [IQR], 32–64 years), and median age at diagnosis was 58.0 years (range, 20–76 years; IQR, 38–65 years), with a median time until diagnosis of 2 years (range, 0–6 years; IQR, 1–3 years). The most common manifestations were cutaneous (face, eyelids, lips, trunk, hands, feet, and genitals). Most patient had low levels of C4 (13/14; 92.8%) and of antigenic C1-INH (8/14; 57.1%). Four had decreased functional activity of C1-INH (4/7; 57.1%) and C1q levels were low in 5 patients (5/12; 41.6%). Underlying diseases were identified in all 14 patients, with lymphoma of the splenic marginal zone and monoclonal gammopathy of undetermined significance being the most frequent. Nine patients (64.2%) needed long-term prophylactic treatment for recurrent angioedema and 5 patients (46.7%) required treatment for angioedema attacks. Most of them (12/14; 85.7%) had resolution of angioedema. Conclusion: Therapy of AAE-C1-INH aims to control symptoms; however, diagnosis and treatment of the underlying disease, when present, should be an important target and may lead to the resolution of angioedema in patients with AAE-C1-INH.

Background: Common Variable Immunodeficiency (CVID) is the most frequent type of severe primary immunodeficiency (PID). Clinical manifestations of CVID occur at any age; nevertheless, they are more frequent between the age of 6 and 10 years, and between the age of 20 and 40 years. In medical literature, there are hardly any diagnostic reports on CVID after 50 years of age. Clinical case: A 58-year-old man with a clinical history of repeated infections since the age of 35. The tests showed a decrease in IgG, IgA, and specific antibodies, without any other causes of hypogammaglobulinemia. The CVID diagnosis was made and the patient received treatment with human immunoglobulin replacement and a reinforcement of personal and environmental hygiene. The patient stopped presenting repeated infections. Conclusion: Diagnoses made after the age of 50, although they’re late, they are fundamental to the recovery of the patient. In the referred case, replacement with human immunoglobulin allowed an improvement in the quality of life.

CUIDAR EM ENFERMAGEM NA SAUDE DO ADULTO E DO IDOSO Acoes de Enfermagem na espiritualidade dos pacientes oncologicos adultos: pesquisa bibliografica Monica Midori Kano, Acacia Maria Lima de Oliveira Devezas Adesao ao tratamento farmacologico em idosos portadores de hipertensao arterial sistemica Graziele da Silva Barbosa, Aparecida Santos Noia Aspectos cli­nicos e epidemiologicos dos tumores de pele: proposta de acoes preventivas e educativas de enfermagem Andreza de Fatima Ribeiro Bianco, Li­via Keismanas de Avila Assistencia de Enfermagem no paciente com dor toracica Jurandir Honorio Junior, Vanda Cristina dos Santos Passos Assistencia de enfermagem na prevencao de lesao por pressao: educacao em saude Cassia Batista de Oliveira Figueiredo, Vanda Cristina dos Santos Passos Assistencia de enfermagem no peri­odo perioperatorio a pacientes submetidos a transplante renal Cristiane Ribeiro Polachini, Reginaldo Adalberto Luz Avaliacao da qualidade de vida de pacientes em terapia renal substitutiva-hemodialise Melly Narita, Luciana Soares Costa Santos Avaliacao do estado de saude e dimensoes relacionadas ao adoecimento em pacientes com diabetes mellitus Alessandra Andrade, Luciana Soares Costa Santos Experiencias e qualidade de vida de indivi­duos com fibromialgia Thayna Morais e Costa, Marcele Pescuma Capeletti Padula, Fernanda Machado Silva-Rodrigues Fatores de risco, complicacoes e cuidados de enfermagem para controle de infeccoes pos transplante renal: revisao de literatura Karina Macedo, Adriana Maria da Silva Felix Incidencia de complicacoes renais e seus desfechos em pacientes politraumatizados: estudo bibliografico Ingrid Mota Silva, Luciana Soares Costa Santos Lesoes de nervos perifericos decorrentes do posicionamento cirurgico e os cuidados de enfermagem: uma revisao narrativa da literatura Larissa Nunes Alves Ferreira, Reginaldo Adalberto Luz Monitorizacao da funcao renal de pacientes internados em Unidades de Terapia Intensiva em uso de antimicrobianos Juliana Aparecida da Silva, Luciana Soares Costa Santos Ocorrencias de evasao em um hospital de ensino Simone Farias dos Santos, Maria Angela Reppetto O papel do enfermeiro na pratica esportiva segundo a teoria das necessidades humanas basicas: uma revisao bibliografica Lethicia Gabriele Nascimento de Souza, Janete Hatsuko Komessu Orientacoes de enfermagem pos intervencao coronaria percutânea: proposta de um plano de alta Marta Valeria dos Santos, Rosimeire Angela de Queiroz Soares Orientacao de enfermagem sobre a atividade fi­sica: estudo bibliografico Edna Rocha de Sa, Cell Regina da Silva Noca Orientacoes sobre higiene nasal e ambiental no tratamento de rinite alergica Gabrielly Menezes, Taina Mosca, Wilma Carvalho Neves Forte Perfil epidemiologico, cli­nico e a assistencia de enfermagem ao idoso internado em unidades de terapia intensiva Flavia Del Busso Peres, Marcele Pescuma Capeletti Padula Perfil epidemiologico, cli­nico e desfecho dos pacientes adultos submetidos a cirurgia cardi­aca no ano de 2018 na Irmandade da Santa Casa de Misericordia de Sao Paulo Ana Carolina Gomes Ferreira, Camila Waters Perfil epidemiologico, cli­nico e desfecho de pacientes com traumatismo cranioencefalico Jeniffer Araujo Valentim da Silva, Camila Waters, Marcele Pescuma Capeletti Padula Perfil epidemiologico, cli­nico e desfecho dos pacientes submetidos a neurocirurgia para resseccao de tumores cerebrais primarios ou secundarios Aline Couto Cavalheiro, Camila Waters Perfil epidemiologico dos pacientes com acidente vascular cerebral: pesquisa bibliografica Daisy Polydoro de Souza, Camila Waters CUIDAR EM ENFERMAGEM NA SAUDE DA MULHER Acoes da enfermeira da atencao primaria a saude na promocao da saude da mulher no climaterio Luciana Nogueira Santos Haga, Li­via Keismanas de Avila Complicacoes do HTLV para gestantes, feto e recem-nascido: desafios da assistencia para a enfermagem. Estudo bibliografico Mariana Lira da Silva Nunes, Lenir Honorio Soares CUIDAR EM ENFERMAGEM NA SAUDE DA CRIANCA E DO ADOLESCENTE Metodos nao farmacologicos para o manejo da dor em oncologia pediatrica Thai­s Victor Paes, Fernanda Machado Silva-Rodrigues Relacao entre o aleitamento materno e a dermatite atopica em criancas Camila Rodrigues Bastos, Taina Mosca, Luiz Fernando Bacarini Leite, Wilma Carvalho Neves Forte TRABALHO, EDUCACiO E FORMACAO EM ENFERMAGEM Conhecimento dos discentes de um curso de enfermagem acerca do testamento vital Nathalia Cristina de Freitas, Maria Angela Reppetto Conhecimento dos enfermeiros docentes de um Curso de Enfermagem sobre o testamento vital Nathalia Marques Fernandes, Maria do Carmo Querido Avelar Conhecimento dos estudantes de enfermagem, medicina e profissionais dessas areas, sobre o testamento vital: pesquisa bibliografica Gabrielle de Souza Zorzam, Maria Angela Reppetto Consultorio na rua: facilitadores e dificultadores da pratica de enfermagem Lai­s Alonso Gomes, Cell Regina da Silva Noca Indicadores de qualidade utilizados na assistencia de enfermagem ao paciente cirurgico Rai­ssa Vergacas de Sousa Carvalho, Reginaldo Adalberto Luz Levantamento do conhecimento do enfermeiro sobre lesao renal aguda Valeria Danusia da Costa Silva, Luciana Soares Costa Santos Percepcao de academicos de enfermagem sobre a humanizacao da assistencia ao parto Camille Graziele Alves, Geraldo Mota de Carvalho Perfil sociodemografico de Academicas da Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo Juliana Cassia Tavares de Sousa, Li­via Keismanas de Avila Reacoes emocionais do enfermeiro no contato profissional com o paciente/familiar surdo Barbara Regina dos Santos, Li­via Keismanas de Avila

Background Primary angioedema (PA) is a complex disorder, presenting multiple hereditary (hereditary angioedema) and acquired subtypes (acquired angioedema). Despite a very similar clinical presentation among subtypes, the differential diagnosis is limited by the difficulty to identify bradykinin-mediated PA and the lack of specific biomarkers. Objectives To report the clinical and genetic features of Brazilian patients with PA. Methods Brazilian patients referred from 50 centers were diagnosed on the basis of clinical symptoms, C1 inhibitor (C1-INH) and C4 plasma measurements, and DNA sequencing of genes associated with hereditary angioedema. Results We characterized 92 patients with acquired angioedema and 425 with HAE: 125 with C1-INH deficiency, 180 with F12 mutations, and 120 of unknown cause. Thirty-one different mutations were identified in SERPING1 and 2 in F12, in addition to 2 mutations of uncertain significance in the ANGPT1 gene. The molecular diagnosis was decisive for 34 patients with HAE without family history, and for 39% of patients with inconsistent biochemical measurements. The median delay in diagnosis was 10 years, with a maximum of 18 years for HAE with C1-INH deficiency. Androgens and tranexamic acid were the most used drugs for long-term prophylaxis in all the PA subtypes, and they were used on demand by 15% of patients. Only 10% of patients reported the use of specific medication for HAE during attacks. Conclusions Our analysis exposes a broad picture of PA diagnosis and management in a developing country. Complement measurements presented considerable inconsistencies, increasing the diagnosis delay, while patients with PA with normal C1-INH remain with an inaccurate diagnosis and unspecific treatment.

CD40 ligand deficiency (CD40L), currently classified as an inborn error of immunity affecting cellular and humoral immunity, prevalently emerges in boys within the first two years of life. It manifests itself as a decrease in serum IgG, IgA and IgE, with normal or high IgM, defects in T cell proliferation, and decrease in soluble CD40L. These accompany sinopulmonary and/or gastrointestinal infections, and there may be infections caused by pyogenic bacteria, opportunistic infections, autoimmune diseases, and neoplasms. Mild and moderate cases of this deficiency may respond well to prophylactic antibiotic therapy or to human immunoglobulin replacement therapy, in addition to the early treatment of infections. Severe cases can be treated with hematopoietic stem cell transplantation, which allows the healing of such patients, rather than sequelae and a poor progression. Thus, its differential diagnosis with other inborn errors of immunity is essential, especially CD40 deficiency and variable common immunodeficiency; the reason why we have proposed the present literature review.

Mutations in the CD40 ligand (CD40L) gene (CD40LG) lead to X-linked hyper-IgM syndrome (X-HIGM), which is a primary immunodeficiency (PID) characterized by decreased serum levels of IgG and IgA and normal or elevated IgM levels. Although most X-HIGM patients become symptomatic during the first or second year of life, during which they exhibit recurrent infections, some patients exhibit mild phenotypes, which are usually associated with hypomorphic mutations that do not abrogate protein expression or function. Here, we describe a 28-year-old man who initially presented with recurrent infections since the age of 7 years, when he exhibited meningitis caused by Cryptococcus neoformans. The patient had no family history of immunodeficiency, and based on clinical and laboratory presentation, he was initially diagnosed with common variable immunodeficiency (CVID). In subsequent years, he displayed several sporadic episodes of infection, including pneumonia, pharyngotonsillitis, acute otitis media, rhinosinusitis, fungal dermatosis, and intestinal helminthiasis. The evaluation of CD40L expression on the surface of activated CD3+CD4+ T cells from the patient showed decreased expression of CD40L. Genetic analysis revealed a novel de novo mutation consisting of a 6-nucleotide insertion in exon 1 of CD40LG, which confirmed the diagnosis of X-HIGM. In this report, we describe a novel mutation in the CD40L gene and highlight the complexities of PID diagnosis in light of atypical phenotypes and hypomorphic mutations as well as the importance of the differential diagnosis of PIDs.