Resumen Antecedentes: El síndrome de Wiskott-Aldrich es un error innato de la inmunidad, distinguido por trombocitopenia, plaquetas pequeñas, eccema severo, infecciones recurrentes, y susceptibilidad a enfermedades autoinmunes y neoplasias. El diagnóstico es difícil de establecer, especialmente cuando las plaquetas son de tamaño normal. Reporte de caso: Paciente masculino de 3 años, enviado al Hospital Universitario da Santa Casa de São Paulo, Brasil, por otitis media aguda, con evolución a sepsis por Haemophilus influenzae. Al mes de edad fue diagnosticado con trombocitopenia autoinmune, y a los 2 años se llevó a cabo explenectomía. Durante el seguimiento requirió tres hospitalizaciones: una por infección por Streptococcus pneumoniae, que evolucionó a sepsis; otra por exacerbación de eccema, aislándose S. epidermidis, y la última por fiebre de origen indeterminado. Las pruebas de laboratorio informaron: concentración de plaquetas dentro de los valores de referencia después de la esplenectomía, y de tamaño normal. A los 4 años se efectuaron nuevas pruebas, que reportaron: IgE 3128 kU/L; IgA, IgG y anticuerpo anti-polisacáridos normales; disminución de IgM y de CD19, TCD4, T y B vírgenes; aumento de TCD8; NK normales. Se sospechó el diagnóstico de síndrome de Wiskott-Aldrich. Mediante estudios de genética se identificó la mutación c.295C>T en el gen WAS. Conclusiones: El caso aquí expuesto expresó una nueva mutación en el gen SWA, caracterizado por manifestaciones clínicas de fenotipo leve del síndrome de Wiskott-Aldrich, con trombocitopenia, plaquetas de tamaño normal y herencia ligada al cromosoma X. Es importante establecer el diagnóstico y tratamiento oportunos para ofrecer una mejor calidad de vida en estos pacientes.

Abstract Background: Wiskott-Aldrich syndrome is an Inborn Error of Immunity characterized by thrombocytopenia, small platelets, severe eczema, recurrent infections, tendency to autoimmune diseases and neoplasms. The diagnosis of the syndrome can be difficult, especially when platelets are of normal size. Case report: A three-year-old male patient was referred to a specialized sector of university hospital for presenting acute otitis media that progressed to sepsis by Haemophilus influenzae. At one month of age, he had been diagnosed with autoimmune thrombocytopenia, and splenectomy was performed at two years of age. During follow-up, three hospitalizations were necessary: an infection by Streptococcus pneumoniae, which progressed to sepsis; one due to exacerbation of eczema, isolating S. epidermidis; another due to fever of undetermined origin. The tests showed normal number of platelets after splenectomy, platelets always with normal size. At age four, tests were performed: IgE 3128 Ku/L; IgA, IgG, and normal anti-polysaccharide antibodies; decreased IgM; decrease CD19, TCD4, naïve T and B; increased TCD8; normal NK. A diagnostic hypothesis of “probable” WAS was made. Genetic research has identified the c.295C>T mutation in the WAS gene. Conclusions: The case reported expressed a new mutation in the SWA gene, characterized by clinical manifestations of the mild phenotype of Wiskott-Aldrich syndrome, with thrombocytopenia, platelets of normal size, and X-linked inheritance. It is important to establish the early diagnosis and treatment to offer a better quality of life in these patients.

Abstract Introduction: Diagnosis and treatment of hereditary angioedema (HAE) are necessary to improve the quality of life and even the survival of patients. Case report: A 52-year-old woman with angioedema for 30 years, which affects the face, tongue, and hands. It is asymmetric, with neither pruritus nor urticaria, without response to antihistamines or corticosteroids, with spontaneous resolution in 48 hours to 72 hours; with a family history of angioedema. Normal physical examination between exacerbations. Autoimmune and lymphoproliferative diseases were ruled out. Values of C1q, C4, C1-INH were normal. The diagnosis of HAE type C1-INH normal subtype Unknown was established. The total resolution of the crises was achieved after two months with androgen therapy. Outpatient follow-up has been given for four years and no angioedema crisis has been reported, which is associated with a radical change in the quality of life. Conclusions: The patient was diagnosed with HAE after 30 years of clinical manifestations, after acquired angioedema was ruled out.

Resumen Introducción: El diagnóstico y tratamiento del angioedema hereditario (AEH) son necesarios para mejorar la calidad de vida e incluso la supervivencia de pacientes. Reporte de caso: Mujer de 52 años con angioedema desde hace 30 años, que afecta cara, lengua y manos, asimétrico, sin prurito ni urticaria, sin respuesta a antihistamínicos ni corticoides, resolución espontánea entre las 48 a 72 horas, historia familiar de angioedema. Examen físico normal entre las exacerbaciones. Se descartaron enfermedades autoinmunes, linfoproliferativas. Los valores de C1q, C4, C1-INH fueron normales. Diagnóstico de AEH tipo C1-INH normal subtipo unknown. Tratamiento iniciado con andrógenos: resolución total de las crisis a los dos meses. Seguimiento ambulatorio durante cuatro años, sin crisis de angioedema, asociado con un cambio total en la calidad de vida. Conclusiones: La paciente fue diagnosticada de AEH solo después de 30 años de manifestaciones clínicas, después de descartar angioedema adquirido.

Abstract 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.

Resumen Antecedentes: La inmunodeficiencia común variable (IDCV) es la inmunodeficiencia primaria (IDP) grave más frecuente. Las manifestaciones clínicas surgen en cualquier edad, pero son más frecuentes entre los seis y 10 años y entre los 20 y 40 años. En la literatura, casi no hay informes de diagnóstico de IDCV después de los 50 años. Caso clínico: Hombre, 58 años de edad, con historia clínica de infecciones de repetición desde los 35 años. Los exámenes mostraron disminución de IgG, IgA, anticuerpos específicos, sin otras causas de hipogammaglobulinemia. Se realizó el diagnóstico de IDCV y recibió reposición de inmunoglobulina humana, así como refuerzo de la higiene personal y ambiental. El paciente dejó de presentar infecciones de repetición. Conclusión: Los diagnósticos después de los 50 años, a pesar de ser tardíos, son fundamentales para la recuperación de los pacientes. En el caso referido, la reposición con inmunoglobulina humana permitió mejorar la calidad de vida.

Abstract Background: Hospital-acquired infection, often with Staphylococcus aureus, is an important complication in intestinal transplant. Clinical case: A 2-year-old girl underwent small bowel transplantation owing to a small bowel volvulus. On the first postoperative day, lymphocyte phenotypes, serum immunoglobulins and chemotactic and phagocytic activity of neutrophils were assessed in peripheral blood. A decrease in the ingestion phase of phagocytosis by neutrophils was identified, in comparison with the results of 20 healthy children. On the second day, the patient had low fever and, on the third, abdominal pain. In view of this, she underwent a laparotomy that revealed purulent ascites due to Staphylococcus aureus. Specific treatment resulted in rapid regression of the infectious condition and good evolution of the patient. Conclusions: A decrease in the ingestion stage of phagocytosis by neutrophils preceded staphylococcal purulent ascites clinical manifestations, and immunologic assessment contributed to early diagnosis and treatment of the infection. We believe evaluation of neutrophilic activity is important in patients undergoing intestinal transplantation in order for possible hospital-acquired infections to be early diagnosed.

Resumen Antecedentes: La infección hospitalaria, frecuentemente por Staphylococcus aureus, es una complicación importante en los pacientes con trasplante intestinal. Caso clínico: Niña de 2 años de edad sometida a trasplante de intestino delgado debido a vólvulo yeyunal. En el primer día del posoperatorio, en la sangre periférica fueron evaluados fenotipo de linfocitos, inmunoglobulinas séricas, actividad quimiotáctica y fagocitaria de neutrófilos. Se identificó disminución de la etapa de ingestión de fagocitosis neutrofílica, en comparación con los resultados de 20 niños saludables. En el segundo día, la paciente presentó fiebre baja y en el tercero, dolor abdominal. Debido a lo anterior fue sometida a laparotomía que reveló ascitis purulenta por Staphylococcus aureus. El tratamiento específico derivó en regresión rápida del cuadro infeccioso y buena evolución. Conclusiones: La disminución de la etapa de ingestión de la fagocitosis neutrofílica precedió a las manifestaciones clínicas de ascitis purulenta estafilocócica; la evaluación inmunológica contribuyó al diagnóstico y tratamiento precoces de la infección. Creemos que es importante la evaluación de la actividad neutrofílica en pacientes sometidos a trasplante intestinal, con la finalidad de diagnosticar tempranamente posibles infecciones hospitalarias.

Abstract: Background: IgA deficiency is the most common primary immunodeficiency. Early diagnosis and clinical follow-up may improve the quality of life of patients with IgA deficiency. To this end, IgA deficiency should be further studied and better understood on its clinical manifestations. Objective: To determine IgA deficiency clinical manifestations. Methods: Cross-sectional, retrospective, exploratory study, where the medical records of 39 patients with IgA deficiency were analyzed. Results: Among the analyzed cases, 10 patients were diagnosed with total IgA deficiency and 29 patients with partial IgA deficiency. Partial and total IgA deficiency main clinical manifestations were allergic rhinoconjunctivitis and allergic asthma. In total IgA deficiency, in addition to allergic diseases, a statistically significant number (p < 0.05) of cases of infection-related rhinosinusitis, tonsillitis and conjunctivitis were also observed. Conclusion: This study showed that the main clinical manifestations in IgA deficiency were allergic rhinoconjunctivitis and allergic asthma. In addition, patients with total IgA deficiency showed a significant increase in infection-related rhinosinusitis, tonsillitis and conjunctivitis, when compared with patients with partial IgA deficiency.

Resumen: Antecedentes: La deficiencia de inmunoglobulina A (IgA) es la inmunodeficiencia primaria más frecuente. El diagnóstico oportuno y el seguimiento clínico pueden mejorar la calidad de vida de los portadores. Para ello, deben estudiarse y entenderse las manifestaciones clínicas de este trastorno. Objetivo: Determinar las manifestaciones clínicas de la deficiencia de IgA. Métodos: Estudio transversal, retrospectivo, exploratorio, realizado mediante análisis de expedientes de 39 pacientes con deficiencia de IgA. Resultados: De los pacientes analizados, 10 fueron diagnosticados con deficiencia total de IgA y 29 con deficiencia parcial. Las principales manifestaciones clínicas fueron rinoconjuntivitis y asma alérgicas. En los pacientes con deficiencia total de IgA, además de las enfermedades alérgicas se observó un mayor número de cuadros infecciosos de rinosinusitis, amigdalitis y conjuntivitis (p < 0.05). Conclusión: En el presente estudio, las principales manifestaciones clínicas de la deficiencia de IgA fueron los cuadros alérgicos de rinoconjuntivitis y el asma; además, los pacientes portadores de deficiencia total de IgA presentaron aumento significativo de cuadros infecciosos de rinosinusitis, amigdalitis y conjuntivitis, comparados con los pacientes con deficiencia parcial de IgA.

OBJETIVO: Avaliar a atividade quimiotática e a resposta fagocitária dos leucócitos polimorfonucleares neutrofílicos entre puérperas nos cinco primeiros dias após o parto.MÉTODOS: Um estudo clínico-laboratorial prospectivo e transversal foi realizado. Dados de 31 puérperas nos cinco primeiros dias após o parto vaginal foram comparados aos de 24 mulheres saudáveis não gestantes e não puérperas, por meio da idade. Os critérios de inclusão foram puérperas clínica e obstetricamente saudáveis; parto vaginal; gestação de feto único a termo; não hipertensas, hiperglicêmicas, alérgicas ou desnutridas ou portadoras de doenças autoimunes ou neoplasias; sem terem recebido vacinas ou hemoderivados nos últimos três meses. O Grupo Controle foi selecionado utilizando-se os mesmos critérios, mas com mulheres não gestantes e não puérperas. A atividade quimiotática por leucócitos polimorfonucleares neutrofílicos foi avaliada determinando-se a distância da migração dirigida ao lipopolissacarídeo bacteriano em três ensaios utilizando-se câmaras de Boyden. A resposta fagocitária foi identificada por meio da ingestão de partículas de zymosan em três ensaios, que foram realizados em tubos de Leighton. Na análise estatística, empregou-se o teste tde Student, adotando-se o nível de significância de 5%.RESULTADOS: A atividade quimiotática dos leucócitos polimorfonucleares neutrofílicos de mulheres no pós-parto, na presença de soro homólogo (73,2±6,9) e autólogo (78,6±13,9), mostrou diferença significante quando comparada aos valores observados no Grupo Controle (64,1±4,1 e 66,6±5,4). A resposta quimiotática e a etapa de ingestão da fagocitose por leucócitos polimorfonucleares neutrofílicos apresentaram acréscimos expressivos (p<0,05) em puérperas ao compararem-se aos valores de mulheres saudáveis não gestantes e não puérperas.CONCLUSÃO: Houve um aumento da atividade quimiotática e da resposta fagocitária por leucócitos polimorfonucleares neutrofílicos nos primeiros cinco dias após parto vaginal nas mulheres.

PURPOSE: To assess the chemotactic activity and phagocytic response of neutrophilic polymorphonuclear leukocytes among women in the first five days postpartum.METHODS: A prospective, cross-sectional clinical-laboratory study was conducted. Data of 31 postpartum women during the first five days after vaginal delivery were compared with those of 24 healthy non-pregnant non-postpartum women matched for age. The inclusion criteria were postpartum, clinically and obstetrically healthy women; vaginal delivery, singleton pregnancy carried to term; non-hypertensive, hyperglycemic, allergic, malnourished or with autoimmune or neoplastic diseases; not having received vaccines or blood products in the last three months. The Control Group was chosen according to the same inclusion criteria but involving non-pregnant non-postpartum women. The chemotactic activity of neutrophilic polymorphonuclear leukocytes was assessed by determining the distance from directed migration to bacterial lipopolysaccharide, in three Boyden chamber assays. The phagocytic response was identified by assessing the Zymosan particles' ingestion in three assays carried out in Leighton tubes. The Student's t-test was used in the statistical analysis, adopting a 5% level of significance.RESULTS: The chemotactic activity of neutrophilic polymorphonuclear leukocytes from postpartum women in the presence of homologous (73.2±6.9) and autologous (78.6±13.9) sera showed a significant increase compared to the values observed in the Control Group (64.1±4.1 and 66.6±5.4). Both chemotactic response and phagocytosis ingestion phase of neutrophilic polymorphonuclear leukocytes were significantly increased (p<0.05) in postpartum women compared to healthy non-pregnant and non-postpartum women.CONCLUSION: There was an increase in the chemotactic activity and phagocytic response of neutrophilic polymorphonuclear leukocytes during the first five days after vaginal delivery in women.

OBJETIVO: Analisar os componentes séricos C3 e C4 do sistema complemento como possíveis biomarcadores de asma atópica intermitente. MÉTODOS: Determinação dos níveis séricos dos componentes C3 e C4 do complemento em 70 crianças com história de "chiado no peito” entre 3 e 14 anos. Após 2 anos de acompanhamento ambulatorial, seguindo-se critérios de inclusão e exclusão, as crianças foram divididas em 2 grupos: 40 crianças com asma atópica intermitente e 30 crianças sem asma. Não houve uso de corticosteroides inalatórios ou sistêmicos ou de broncodilatadores de ação prolongada em nenhum dos grupos. Os dois grupos apresentaram faixas etárias semelhantes, comparadas pelo teste t de Student. Os resultados dos componentes C3 e C4 mostraram distribuição normal e foram então comparados utilizando-se o teste t de Student, considerando-se significante quando p < 0,05. RESULTADOS: Os valores observados no grupo de crianças portadoras de asma atópica intermitente mostraram aumentos significativos para: C3 em 85,0% das crianças; C4 em 87,5%; C3 e C4 em 72,5%; C3 ou C4 em 97,5%, quando comparados aos valores observados das crianças sem asma e da mesma faixa etária. CONCLUSÃO: Observamos um aumento dos valores séricos dos componentes C3 e/ou C4 do sistema complemento na maioria das crianças estudadas portadoras de asma atópica intermitente, em comparação aos valores de crianças sem asma, da mesma faixa etária. Concluímos que a presença de valores aumentados dos componentes C3 e/ou C4 do complemento possa representar um biomarcador no diagnóstico de asma atópica intermitente.

OBJECTIVE: To analyze serum C3 and C4 complement system components with a view to their possible utility as biomarkers of intermittent atopic asthma. METHODS: Serum levels of the C3 and C4 complement components were assayed in 70 children aged from 3 to 14 years and with a history of "wheezy chest.” After 2 years' outpatients follow-up and after application of inclusion and exclusion criteria, the children were divided into two groups: 40 children with intermittent atopic asthma and 30 children without asthma. None of the children in either group were treated with inhaled or systemic corticosteroids or long-acting bronchodilators. The two groups had similar ages according to Student's t test. The C3 and C4 component test results followed a normal distribution and were therefore compared using Student's t test with significance set at p < 0.05. RESULTS: The results for the group with intermittent atopic asthma were significantly elevated for C3 in 85.0% of the children, for C4 in 87.5% of the children, for both C3 and C4 in 72.5% of the children, and for either C3 or C4 in 97.5% of the children, when compared with the results for the children without asthma from the same age group. CONCLUSION: We observed an increase in the serum levels of the C3 and/or C4 components of the complement system in the majority of the patients with intermittent atopic asthma studied here, when compared with the results for children in the same age group without asthma. We conclude that the presence of elevated C3 and/or C4 complement components could represent a biomarker for diagnosis of intermittent atopic asthma.