Abstract. JESUS, Adriana Almeida de et al. Associação de imunodeficiências primárias com doenças auto-imunes na infância. Rev. Bras. Reumatol. [online]. APDIP é uma associação sem fins lucrativos que foi criada com a finalidade de apoiar os doentes com imunodeficiências primárias em Portugal. A Imunodeficiência Combinada Grave é uma imunodeficiência primária rara, na qual existe a ausência combinada das funções dos linfócitos. T e dos linfócitos.

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In the present study, in the seven cases investigated, four had diagnostic confirmation of PIDs and another had low levels of all classes of antibodies, being highly suggestive of agammaglobulinemia with distribution compatible with the mentioned survey.

imunodeficiencias primarias diagnostico

The PICUs have, as part of their target audience, patients with serious infections, precisely one of the indicative signs of PIDs and that suggest the immunological investigation. They may occur in a recurring basis and, thus, the patient has a much larger number of infections that the average for his age group, or may present more severe infections, with increased risk 8.

In the present study, the most prevalent initial infection responsible for ICU admission was pneumonia, given equivalent surveys of general infections in children with PIDs The data verified on the patient’s manual and digital records comprised information on age, sex, primary diagnosis, and secondary diagnosis during hospitalization, presence of comorbidities, history of previous infections, tests performed on admission and, subsequently, hospitalization.

Primary immunodeficiencies PIDs are rare diseases considered in isolation; however, they comprise a set of over different changes already described and have an estimated prevalence of 1: In this sense, the Jeffrey Modell Foundation, along with other American institutions, formulated warning signs to draw attention for the need to investigate a possible immune deficiency in this group of patients 5.

Five of the 11 patients had an acute arthritis and six patients a chronic nonerosive arthritis JIA-like.

Early diagnosis of severe combined immunodeficiency syndrome. Etzioni A, Tonetti M. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.


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Our findings suggest the necessity of performing PID investigation in this group of patients. The present study showed a low prevalence of humoral immunodeficiency in patients with rheumatic diseases. Among the 53 patients, only seven Received Jun 28; Accepted Sep Ear, nose, and throat manifestations in patients with primary immunodeficiencies.

Diagnostic criteria for primary immunodeficiencies. J Clin Immunol ;28 Suppl 1: The immunological investigation in patients imunpdeficiencias PIDs is individualized according to imunodeficienclas signs and symptoms and must be performed in stages, according to the findings in each subject 2. Applying public health strategies to primary immunodeficiency diseases: Laboratory screening for the diagnosis of children with primary immunodeficiencies.

Nevertheless, even in a reference institution, such as that here presented, which is a tertiary hospital with regional demand and linked to the area of education, the screening of patients has not been performed routinely, as analyzed by the present study.

The present study has limitations due to the retrospective data collection, with analysis depending on the completion of the medical records of each patient. Coutinho A, Carneiro-Sampaio M.

To improve medical knowledge about PIDs, the warning signs were developed, which have been disseminated imunodeficiiencias the medical community through lectures, cards, and posters, and the use of social media to draw attention to the need to perform the screening of these patients, whose diagnosis can primxrias a more effective treatment of the disease, reducing the number of infections and hence, the morbidity and mortality Of imunodsficiencias total, four 7.

Infections are the main manifestations of PIDs. In the studied period, 53 children were hospitalized with severe infections in the Pediatric Intensive Care Unit, and only in seven Hyper-IgM syndrome in members of two unrelated Chilean families: Atypical presentation of common variable immunodeficiency without infections. Advances in the understanding and treatment of human severe combined immunodeficiency.

Associação de imunodeficiências primárias com doenças auto-imunes na infância

Common variable immunodeficiency and isosporiasis: In Brazil, these warning signs underwent an adaption to local realities, in a joint effort of the Brazilian Society of Pediatrics and the Brazilian Association of Allergy and Immunology, with the emergence of the Brazilian Group for Immunodeficiency, which became responsible for disseminating these alert signals in the medical environment.


Given the number of patients with abnormalities among those investigated, it is necessary to develop strategies for continuing medical education in the pediatric intensive care teams so that the investigation of PIDs becomes a routine examination in patients with serious infections.

In previous surveys conducted by the Primary Immunodeficiency Foundationthe infections most associated to subsequent diagnosis of PIDs in patients in the United States were pneumonia, acute otitis media, sinusitis, tracheobronchitis, and acute diarrhea, which are common in childhood 4. Thus, even if the blood count and immunoglobulins have shown normal results in two other patients investigated, other humoral changes cannot be excluded, such as complement changes or qualitative deficit of antibodies, or even cellular changes, such as qualitative for phagocytes or lymphocytes, or other more specific.

We used a convenience sample, composed of all patients who met the inclusion criteria in the year proposed for the study. Introduction Primary immunodeficiencies PIDs are rare diseases considered in isolation; however, they comprise a set of over different changes already described and have an estimated prevalence of 1: Among the warning signs Chart 1there is an episode of severe systemic infection meningitis, osteoarthritis, and sepsis 67. Imunopediatria [cited Feb 01]; [homepage on the Internet].

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A retrospective evaluation was performed in patients imunodeficiencisa presented arthritis as the first clinical manifestation of immunodeficiency.

Complement protein hereditary deficits during purulent meningitis: Bussone G, Mouthon L. Rheumatologic findings may be the first manifestation of imunodefciencias humoral immunodeficiencies. Results From January to January53 children were admitted to the PICU involved in the study with primary diagnosis of some form of severe infectious.

The levels of antibodies were demonstrated in graphical representation of immunoglobulins by age Figure 1. Among the seven patients with initial screening, only two Copyright and License information Disclaimer.