Search

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.

Objectives To provide an overview of drug treatment, transplantation, and gene therapy for patients with primary immunodeficiencies. Source of data Non-systematic review of the literature in the English language carried out at PubMed. Synthesis of data The treatment of patients with primary immunodeficiencies aims to control their disease, especially the treatment and prevention of infections through antibiotic prophylaxis and/or immunoglobulin replacement therapy. In several diseases, it is possible to use specific medications for the affected pathway with control of the condition, especially in autoimmune or autoinflammatory processes associated with inborn immunity errors. In some diseases, treatment can be curative through hematopoietic stem cell transplantation (HSCT); more recently, gene therapy has opened new horizons through new technologies. Conclusions Immunoglobulin replacement therapy remains the main therapeutic tool. Precision medicine with specific drugs for altered immune pathways is already a reality for several immune defects. Advances in the management of HSCT and gene therapy have expanded the capacity for curative treatments in patients with primary immunodeficiencies.

Introduction: Cow’s milk protein allergy (CMA) is the most common type of food allergy in childhood and exclusion diet is a challenge for patients. Objective: The study aim was to investigate the frequency of tolerance to baked foods containing milk and evaluate immediate skin prick test (SPT) and specific IgEs for different cow’s milk (CM) protein types as predictors of tolerance to baked foods containing milk for CMA patients. Methods: A cross-sectional study was performed. Fifty-four CMA patients were enrolled and oral food challenge (OFC) was performed with baked product, 6 different milk SPTs and specific IgEs to CM, casein, α-lactalbumin, and β-lactoglobulin. Results: Thirty-nine (72.2%) patients tolerated OFC with baked milk cupcake. CM-specific IgE and casein SPT showed statistical difference between positive and negative OFC groups. Probability curves for baked milk tolerance were created for specific CM IgE (Z = 2.542, p < 0.0110) and casein SPT (Z = 2.290, p < 0.0220) using logistic regression. Conclusions: The high percentage of patients able to tolerate baked goods enables an improvement in intake possibilities and quality of life of CMA patients and families. Specific CM IgE and casein SPT demonstrated to be useful predictors in relation to baked milk tolerance.

Background: Inflammation is the most relevant mechanism linking obesity with insulin-resistance and metabolic disease. It impacts the structure and function of tissues and organs involved in metabolism, such as the liver, pancreatic islets and the hypothalamus. Brown adipose tissue has emerged as an important component of whole body energy homeostasis, controlling caloric expenditure through the regulation of non-shivering thermogenesis. However, little is known about the impact of systemic inflammation on the structure and function of brown adipose tissue. Methods: The relations between IL10 and mitochondria structure/function and also with thermogenesis were evaluated by bioinformatics using human and rodent data. Real-time PCR, immunoblot, fluorescence and transmission electron microscopy were employed to determine the effect of IL10 in the brown adipose tissue of wild type and IL10 knockout mice. Findings: IL10 knockout mice, a model of systemic inflammation, present severe structural abnormalities of brown adipose tissue mitochondria, which are round-shaped with loss of cristae structure and increased fragmentation. IL10 deficiency leads to newborn cold intolerance and impaired UCP1-dependent brown adipose tissue mitochondrial respiration. The reduction of systemic inflammation with an anti-TNFα monoclonal antibody partially rescued the structural but not the functional abnormalities of brown adipose tissue mitochondria. Using bioinformatics analyses we show that in both humans and mice, IL10 transcripts correlate with mitochondrial lipid metabolism and caspase gene expression. Interpretation: IL10 and systemic inflammation play a central role in the regulation of brown adipose tissue by controlling mitochondrial structure and function. Fund: Sao Paulo Research Foundation grant 2013/07607-8. Keywords: Interleukin-10, Inflammation, Thermogenesis, Mitochondria, Respiration, Obesity

Early detection of Primary Immunodeficiencies Disorders (PIDDs) is of paramount importance for effective treatment and disease management. Many PIDDs would be strong candidates for newborn screening (NBS) if robust screening methods could identify patients from dried blood spots (DBS) during the neonatal period. As majority of congenital PIDDs result in the reduction or absence of specific proteins, direct quantification of these target proteins represents an attractive potential screening tool. Unfortunately, detection is often limited by the extremely low protein concentrations in blood cells and limited blood volume present in DBS. We have recently developed a robust novel method for quantification of low abundance proteins in DBS for PIDDs using peptide immunoaffinity enrichment coupled to selected reaction monitoring (immuno-SRM). Here, we further generated a multiplexed Immuno-SRM panel for simultaneous screening of eight signature peptides representing five PIDD-specific and two cell-type specific proteins from DBS. In samples from 28 PIDD patients including two carriers, representing X-Linked Agammaglobulinemia (XLA), Wiskott-Aldrich Syndrome (WAS), X-Linked Chronic Granulomatous Disease (XL-CGD), DOCK8 Deficiency and ADA deficiency, peptides representing each disease are significantly reduced relative to normal controls and patient identification had excellent agreement with clinical and molecular diagnosis. Also included in the multiplex panel are cell specific markers for platelets (CD42) and Natural Killer Cells (CD56). In patients with WAS, CD42 levels were found to be significantly reduced consistent with characteristic thrombocytopenia. A patient with WAS analyzed before and after bone marrow transplant showed normalized WAS protein and platelet CD42 after treatment highlighting the ability of immuno-SRM to monitor the effects of PIDD treatment. The assay was readily reproduced in two separate laboratories with similar analytical performance and complete agreement in patient diagnosis demonstrating the effective standardized methods. A high-throughput Immuno-SRM method screens PIDD-specific peptides in a 2.5-min runtime meeting high volume NBS workflow requirements was also demonstrated in this report. This high-throughput method returned identical results to the standard Immuno-SRM PIDD panel. Immuno-SRM peptide analysis represents a robust potential clinical diagnostic for identifying and studying PIDD patients from easily collected and shipped DBS and supports a significant potential for early PIDD diagnosis through newborn screening.

Background The food atopy patch (APT) test has been used in previous studies to help the diagnosis of non-IgE mediated food allergies (FA). The aim of this study was to evaluate the efficacy of different cow's milk APT preparations to predict oral tolerance in children with previous non-IgE-mediated cow's milk allergy (CMA) diagnosis. Methods Thirty-two patients non-IgE-mediated CMA diagnosed by oral food challenge (OFC) were enrolled to perform APT with three different cow's milk preparations (fresh, 2% in saline solution, 2% in petrolatum) and comparing with a new OFC after at least three months of diet exclusion. Results Only six (18.7%) subjects presented positive OFC to cow's milk. No differences in gender, onset symptoms age, OFC age, Z-score, and exclusion period were found between positive and negative OFC patients. Preparations using fresh milk and powdered milk in petrolatum presented sensitivity equal to zero and specificity 92.3% and 96.1%. The preparation using powdered milk in saline solution showed sensitivity and specificity of 33.3% and 96.1%. Two patients presented typical IgE symptoms after OFC. Conclusion Cow's milk APT presented a low efficacy to predict tolerance in patients with previous non-IgE-mediated CMA and should not be used in clinical routine. The presence of typical IgE reactions after OFC hallmark the necessity of previous IgE-mediated investigation for this patient group.

Background: Primary immunodeficiencies (PID) are a heterogeneous group of diseases that cause alterations in the immune system, leading to the increased susceptibility to infections, autoimmune diseases, and malignancies. The aim was to evaluate the presence of clinical manifestations and diagnoses of asthma, rhinitis, and atopic dermatitis in patients diagnosed with PID, and correlate these with allergen sensitization verified by skin prick testing (SPT). Material and Methods: This cross-sectional, descriptive, and observational study was conducted from February 2015 to February 2016. We performed a medical report analysis and SPT for aeroallergens in patients with a PID diagnosis. Results: Thirty-one patients with a PID diagnosis were included. The mean age of the participants was 15.41 years. From the 31 patients, 28 had symptoms suggestive of allergic disease (asthma, rhinitis, and atopic dermatitis) and only 7 presented positive SPT for at least 1 aeroallergen. Conclusion: The frequency of allergenic sensitization in the group of patients with PID and symptoms suggestive of asthma, rhinitis, or atopic dermatitis is lower than that found in the general population, probably due the impairment of IgE formation secondary to their immunologic alterations.

diagnosis of primary immunodeficiency diseases (PID) is still a challenge in many countries in Latin America (LA), especially those that face social and economic problems. The creation of a society was fundamental to combine efforts that resulted in an effective educational program, establishment of a registry and a network to improve diagnosis. Areas covered: The focus of this article is to portray the scenario of PID in LA covering different aspects from different countries. For this, a questionnaire was sent to countries that participate in the Latin American Society for Immunodeficiencies (LASID) registry, with questions related to PID challenges in LA. We realized that today the greatest challenge is the availability of laboratory tests to investigate newly described PIDs. Expert commentary: Despite being faced with many difficulties, the Latin America Society for Immunodeficiencies is supporting clinical immunologists throughout the continent, which has resulted in a greater awareness of these diseases and an increase in the number of diagnosis.

We report a novel homozygous JAK3 mutation in two female Brazilian SCID infants from two unrelated kindreds. Patient 1 was referred at 2 months of age due to a family history of immunodeficiency and the appearance of a facial rash. The infant was screened for TRECs (T-cell receptor excision circles) and KRECs (kappa-deleting recombination excision circles) for the assessment of newly formed naïve T and B cells respectively, which showed undetectable TRECs and normal numbers of KRECs. Lymphocyte immunophenotyping by flow cytometry confirmed the screening results, revealing a T-B+NK– SCID. The patient underwent successful HSCT. Patient 2 was admitted to an intensive care unit at 8 months of age with severe pneumonia, BCGosis, and oral moniliasis; she also had a positive family history for SCID but newborn screening was not performed at birth. At 10 months of age she was diagnosed as a T-B+NK– SCID and underwent successful HSCT. JAK3 sequencing revealed the same homozygous missense mutation (c.2350G>A) in both patients. This mutation affects the last nucleotide of exon 17 and it is predicted to disrupt the donor splice site. cDNA sequencing revealed skipping of exon 17 missing in both patients, confirming the predicted effect on mRNA splicing. Skipping of exon 17 leads to an out of frame deletion of 151 nucleotides, frameshift and creation of a new stop codon 60 amino acids downstream of the mutation resulting in a truncated protein which is likely nonfunctional.

Background: Food allergy (FA) prevalence has increased in the last decades, but epidemiologic studies could show overestimated results. The objective of this study is to estimate the prevalence of immediate FA in adults in a region of Central Brazil, using a questionnaire to try to reduce misperceptions about FA reaction. Methods: A cross-sectional study was conducted, enrolling an adult population aged 18-65 years comprised of families in a Central Brazilian city. In the first phase, participants answered a self-administered questionnaire for FA screening. In the second phase, the participants who reported an FA in the first questionnaire were visited to complete the second questionnaire applied by trained researchers. Results: Of the 4,916 adults visited, 1,583 returned a completed questionnaire. Reported FA occurred in 171 (10.8%) subjects, and the more frequent citations were cow's milk, pork, fruits, shrimp, and vegetables. One hundred and four of these individuals completed the second questionnaire, and 15 (1.0%) were considered to have an FA diagnosis. The main foods were fruits, followed by cow's milk, shrimp, pork, and vegetables. Conclusion: After use of a specific questionnaire to recognize possible IgE-mediated FAs, a low frequency of FA was considered in this population. Use of a directed questionnaire administered by trained researchers could be an alternative for epidemiological IgE-mediated FA studies to achieve more accurate results.

Here we report a retrospective cross-sectional study on Esophageal eosinophilia (EsEo) frequency in Brazil, for 2, 425 pediatric patients with symptoms associated with gastroesophageal diseases in 2012. EsEo is defined by ≥15 eosinophils per high power field (400x) and confirmed through histological analyses of esophageal biopsies. Overall, 126 patients had EsEo equating to a frequency of 5.2%. There was a significant difference between the endoscopic features of patients with EsEo, where 10.7% had erosive esophagitis, 3.0% had non-erosive esophagitis and 1% showed normal esophageal mucosa. According to the interaction of the variables in the Classification and Regression Tree Analysis, most patients diagnosed with EsEo were older males with erosive esophagitis. On the other hand, the lowest frequency of EsEo was found among younger females with non-erosive esophagitis/normal mucosa. Environmental conditions, including climate variation and changes, were observed in association with EsEo, supporting a potential role for environmental factors in its pathogenesis. There was an inverse correlation between the number of EsEo, rainfall and humidity. EsEo is a relatively frequent finding in the pediatric population of Brazil with symptoms of gastroesophageal diseases. Both clinical and histological examinations of patients are important for a reliable diagnostic of EsEo cases and to patient care.

Background Epidemiological studies around the world suggest that infection with Toxocara spp. can contribute to the development or worsening of atopic diseases, especially in children. This study investigated the seroprevalence of toxocariasis in atopic children treated at the pediatric clinic of the Federal University of Uberlândia Clinical Hospital, identifying possible relationships with risk factors. Methods The study was conducted between November 2011 and March 2013. Blood samples were collected from 173 children aged 6 to 15 years, who were first subjected to clinical exams and then to a skin-prick test to determine the presence or absence of atopy. Risk factors for toxocariasis were analyzed based on a questionnaire. Serum samples were tested for the presence of IgG antibodies to Toxocara spp. by means of enzyme-linked immunosorbent assay. Results The seroprevalence of Toxocara spp. was 19.6% (24/122) in atopic children and 15% (8/51) in non-atopic children, with no statistical difference. No significant association was found between infection and possible risk factors in atopic and non-atopic children. Conclusions Although no statistical association was found between human toxocariasis and atopy, this study revealed a high seroprevalence of Toxocara spp. in children that may indicate environmental contamination with the parasite's eggs in the area where these children live.

Allergic rhinitis (AR) is a public health problem with high prevalence worldwide. We evaluated levels of specific IgE, IgA, and IgG4 antibodies to theDermatophagoides pteronyssinus(Dpt) house dust mite and to its major allergens (Der p1 and Der p2) in serum and saliva samples from allergic and nonallergic children. A total of 86 children were analyzed, from which 72 had AR and 14 were nonallergic healthy children. Serum IgE and serum/salivary IgG4 levels to Dpt, Der p1, and Der p2 were higher in allergic children whereas serum/salivary IgA levels to all allergens were higher in nonallergic children. IgE levels positively correlated with IgG4 and IgA to all allergens in allergic children, while IgA levels negatively correlated with IgG4 to Dpt and Der p1 in nonallergic children. In conclusion, mite-specific IgA antibodies predominate in the serum and saliva of nonallergic children whereas mite-specific IgE and IgG4 are prevalent in allergic children. The presence of specific IgA appears to have a key role for the healthy immune response to mucosal allergens. Also, specific IgA measurements in serum and/or saliva may be useful for monitoring activation of tolerance-inducing mechanisms during allergen specific immunotherapeutic procedures, especially sublingual immunotherapy.

As doenças alérgicas, como a asma, rinite, conjuntivite alérgica e a dermatite atópica têm apresentado um aumento na sua prevalência nas últimas décadas. A relação entre exposição alergênica, sensibilização atópica e desenvolvimento de doenças alérgicas são amplamente descrita na literatura. OBJETIVO: Discutir a dificuldade no controle ambiental da exposição alergênica como parte do tratamento das doenças alérgicas. MÉTODOS: Analisar trabalhos de exposição alergênica realizados com metodologia similar na região central do Brasil, incluindo casas, hotéis, cinemas, carros, táxis, ônibus e transporte escolar. RESULTADOS: Níveis elevados dos alérgenos do grupo 1 de Dermatophagoides pteronyssinus (Der p 1) e de D. farinae (Der f 1), capazes de causar sensibilização e exacerbação de sintomas foram encontrados na maioria dos ambientes estudados em uma larga proporção das amostras, enquanto os alérgenos de animais domésticos atingiram maiores níveis em carros e veículos de transporte escolar. CONCLUSÃO: A diversidade da exposição alergênica mostra a necessidade de uma compreensão da doença alérgica pelos pacientes e familiares, e que as medidas de controle do ambiente doméstico fazem parte de uma estratégia global do tratamento das doenças alérgicas, uma vez que os indivíduos vivem em uma sociedade e não isoladas no interior de seus domicílios.The prevalence of allergic diseases such as asthma, rhinitis, allergic conjunctivitis and atopic dermatitis has increased in the last decades. The relationship between allergen exposure, atopic sensitization and development of allergic diseases is widely described in the literature. AIM: To evaluate measures for reducing allergen exposure as part of the treatment of allergic diseases. METHODS: An analysis was made of previous studies on allergen exposure done with a similar methodology in the central region of Brazil; the study included homes, hotels, cinemas, cars, taxis, buses and scholar transportation. RESULTS: High levels of Der p 1 and Der f 1 mite allergens were found in a large proportion of the sample in most of the environments included in those studies; there were higher levels of pet allergens in cars and school transportation vehicles. CONCLUSION: The diversity of allergen exposure demonstrates the need for education about allergic diseases for patients and their families, as well as measures of reducing allergens in homes. This should be part of a global strategy of the management of allergic diseases, given that individuals live in society, not only in their houses.

As doenças alérgicas, como a asma, rinite, conjuntivite alérgica e a dermatite atópica têm apresentado um aumento na sua prevalência nas últimas décadas. A relação entre exposição alergênica, sensibilização atópica e desenvolvimento de doenças alérgicas são amplamente descrita na literatura. OBJETIVO: Discutir a dificuldade no controle ambiental da exposição alergênica como parte do tratamento das doenças alérgicas. MÉTODOS: Analisar trabalhos de exposição alergênica realizados com metodologia similar na região central do Brasil, incluindo casas, hotéis, cinemas, carros, táxis, ônibus e transporte escolar. RESULTADOS: Níveis elevados dos alérgenos do grupo 1 de Dermatophagoides pteronyssinus (Der p 1) e de D. farinae (Der f 1), capazes de causar sensibilização e exacerbação de sintomas foram encontrados na maioria dos ambientes estudados em uma larga proporção das amostras, enquanto os alérgenos de animais domésticos atingiram maiores níveis em carros e veículos de transporte escolar. CONCLUSÃO: A diversidade da exposição alergênica mostra a necessidade de uma compreensão da doença alérgica pelos pacientes e familiares, e que as medidas de controle do ambiente doméstico fazem parte de uma estratégia global do tratamento das doenças alérgicas, uma vez que os indivíduos vivem em uma sociedade e não isoladas no interior de seus domicílios.

OBJETIVO: Conhecer o perfil de sensibilização dos pacientes com diagnóstico de doenças alérgicas atendidos no Ambulatório de Alergia do Hospital de Clínicas da Universidade Federal de Uberlândia. MÉTODOS: Foi realizado um estudo retrospectivo por meio da análise de prontuários de pacientes atendidos no serviço, que foram submetidos ao teste cutâneo de puntura (TCP) para os alérgenos de Dermatophagoides pteronyssinus (Der p), Dermatophagoides farinae (Der f), Blomia tropicalis (Blo t), Canis familiaris (Can f), Felis domesticus (Fel d), Blattella germanica (Bla g) e Alternaria alternata, e respondido corretamente ao questionário ISAAC. RESULTADOS: Foram analisados 212 prontuários de pacientes que preenchiam os critérios de inclusão. A rinite alérgica isoladamente foi a maior causa de atendimento (32%), seguida das associações asma e rinite (29,7%) e asma, rinite e eczema (9,4%). Pacientes com asma isoladamente perfizeram apenas 1,9% dos atendimentos. A sensibilização dos pacientes observada foi de 73,5%, sendo de 61,7% para Der p, 59,9% para Der f, 54,7% para Blo t, 45,7% para Bla g, 38,2% para Can f, 33,3% para Fel d e 9,9% para Alternaria. Não houve diferenças significantes entre as patologias encontradas e os perfis de sensibilização. CONCLUSÃO: Os principais alérgenos sensibilizantes determinados pelo TCP foram os ácaros, com predomínio de Der p e Der f, chamando a atenção a elevada prevalência de sensibilização ao último. Ainda foi observada elevada sensibilização aos alérgenos de B. germanica, superior aos estudos anteriores realizados no País.OBJECTIVE: To evaluate allergens among patients with allergic respiratory disease attended at the Allergy Clinic of the University Hospital - Federal University of Uberlândia. METHODS: A retrospective study was performed using medical records. Patients were included if their ISAAC questionnaires were correctly filled out and their skin prick tests were positive to at least one of the allergens from Dermatophagoides pteronyssinus (Der p), Dermatophagoides farinae (Der f), Blomia tropicalis (Blo t), Canis familiaris (Can f), Felis domesticus (Fel d), Blattella germanica (Bla g) and Alternaria alternata. RESULTS: Two-hundred and twelve medical records fulfilled the inclusion criteria. Allergic rhinitis was the main clinical diagnosis (32%), followed by concomitant manifestation of asthma and rhinitis (29.7%), and asthma, rhinitis and atopic dermatitis (9.4%). Asthma alone was found only in 1.9% of patients. The total sensitization observed was 73.5%, of which 61.7%, 59.9%, 54.7%, 45.7%, 38.2%, 33.3%, 9.9% were sensitized to Der p, Der f, Blo t, Bla g, Can f, Fel d and Alternaria, respectively. No significant difference was found between allergic disease types and source of allergen sensitization. CONCLUSION: The highest sensitization in allergic patients under study was to dust mites, especially Der p and Der f. It is noteworthy that the number of patients sensitized to cockroach extract was uncommonly high when compared to previous studies.

Almost all babies suffering from congenital toxoplasmosis, if undiagnosed and untreated, will develop visual or neurological impairments by adulthood. The aim of this study was to investigate the occurrence of congenital toxoplasmosis in two hospitals from Uberlândia, Brazil. A total of 805 serum samples of cord blood were collected, 500 from public hospital and 305 from private hospital, and all patients answered a questionnaire about pregnancy and newborns. ELISA was accomplished to detect IgG antibodies to Toxoplasma gondii and positive sera were re-tested to verify specific IgM and IgA antibodies in a capture ELISA. Seroprevalence of IgG antibodies against T. gondii was 51.6 per cent in the hospitals, while the frequency of congenital toxoplasmosis was 0.5 per cent, with specific IgM and/or IgA antibodies. The main clinical alteration was chorioretinitis (an inflammatory process of the retina and uveal tract). The high seroprevalence in this population and expressive rate of congenital disease show the requirement of screening programmes for toxoplasmosis during pregnancy.

Background and Aims. Food allergy (FA) is a common disease that is rapidly increasing in prevalence for reasons that remain unknown. Objective. The aim of this study was to analyze the clinical characteristics and anthropometric data of patients with food allergies followed in a tertiary centre of allergy and immunology. Methods. A retrospective study was performed that assessed the data records of patients with food allergy diagnosis, covering a period from February 2009 to February 2012. Results. 354 patients were evaluated in the period; 228 (69.1%) patients had a confirmed FA diagnosis. The z-scores for weight-for-age, height-for-age, and body mass indices-for-age showed lower significant values in the FA group compared with the non-FA group by Mann-Whitney test, with significance values of P=0.0005, P=0.0030, and P=0.0066, respectively. There were no statistical differences in sex, gestational age, birth type, breastfeeding period, and age of introduction of complementary formulas based on cow milk protein between groups. Conclusion. FA patients had a lower growth rate in comparison with patients without FA. The early recognition of food allergies with the establishment of protein-implicated diet exclusion, in association with an adequate nutrient replenishment, is important to reduce the nutritional impact of food allergies.

Objective: To analyze whether the patients with severe infections, admitted in the Pediatric Intensive Care Unit of the Hospital de Clínicas of the Universidade Federal de Uberlândia, underwent the active screening for primary immunodeficiencies (PID). Methods: Retrospective study that assessed the data records of patients with any severe infections admitted in the Pediatric Intensive Care Unit, covering a period from January 2011 to January 2012, in order to confirm if they performed an initial investigation for PID with blood count and immunoglobulin dosage. Results: In the studied period, 53 children were hospitalized with severe infections in the Pediatric Intensive Care Unit, and only in seven (13.2%) the initial investigation of PID was performed. Among these patients, 3/7 (42.8%) showed quantitative alterations in immunoglobulin G (IgG) levels, 1/7 (14.3%) had the diagnosis of cyclic neutropenia, and 1/7 (14.3%) presented thrombocytopenia and a final diagnosis of Wiskott-Aldrich syndrome. Therefore, the PID diagnosis was confirmed in 5/7 (71.4%) of the patients. Conclusions: The investigation of PID in patients with severe infections has not been routinely performed in the Pediatric Intensive Care Unit. Our findings suggest the necessity of performing PID investigation in this group of patients. Objetivo: Verificar si los pacientes internados en la Unidad de Terapia Intensiva Pediátrica del Hospital de Clínicas de la Universidad Federal de Uberlândia (Brasil) con infecciones graves fueron sometidos a la busca activa de inmunodeficiencias primarias (IDP). Métodos: Estudio transversal retrospectivo realizado en la Unidad de Terapia Intensiva Pediátrica. Se incluyeron pacientes con diagnóstico de cualquier infección grave admitidos de enero de 2011 a enero de 2012. Se verificó si los pacientes admitidos realizaron la investigación inicial para IDP con hemograma y dosis de inmunoglobulinas. Resultados: En el periodo estudiado, 53 niños fueron internados con infecciones graves, siendo que solamente siete (13,2%) realizaron investigación inicial para IDP. De esos pacientes, 3/7 (42,8%) tenían alteraciones cuantitativas de los niveles de inmunoglobulinas G (IgG), 1/7 (14,3%) presentó diagnóstico de neutropenia cíclica y 1/7 (14,3%), plaquetopenia y diagnóstico de síndrome de Wiskott-Aldrich. Por lo tanto, el diagnóstico de IDP se confirmó en 5/7 (71,4%) de los pacientes. Conclusiones: La investigación de IDP en pacientes con infecciones graves no viene siendo realizada de manera rutinera en la Unidad de Terapia Intensiva Pediátrica. Nuestros hallazgos confirman la necesidad de investigar las IDP en ese grupo de pacientes. Objetivo: Verificar se os pacientes internados na Unidade de Terapia Intensiva Pediátrica do Hospital de Clínicas da Universidade Federal de Uberlândia com infecções graves foram submetidos à busca ativa de imunodeficiências primárias (IDP). Métodos: Estudo observacional retrospectivo realizado na Unidade de Terapia Intensiva Pediátrica. Incluíram-se pacientes com diagnóstico de qualquer infecção grave admitidos de janeiro de 2011 a janeiro de 2012. Verificou-se se os pacientes admitidos realizaram a investigação inicial para IDP com hemograma e dosagem de imunoglobulinas. Resultados: No período estudado, 53 crianças foram internadas com infecções graves, sendo que apenas sete (13,2%) realizaram investigação inicial para IDP. Desses pacientes, 3/7 (42,8%) tinham alterações quantitativas dos níveis de imunoglobulina G (IgG), 1/7 (14,3%) apresentou diagnóstico de neutropenia cíclica e 1/7 (14,3%), plaquetopenia e diagnóstico de síndrome de Wiskott-Aldrich. Portanto, o diagnóstico de IDP foi confirmado em 5/7 (71,4%) dos pacientes. Conclusões: A investigação de IDP em pacientes com infecções graves não tem sido realizada rotineiramente na Unidade de Terapia Intensiva Pediátrica. Nossos achados sugerem a necessidade de investigar as IDP nesse grupo de pacientes.