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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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 to Imunodeficienciqsin order to confirm if they performed imunodeficiencoas initial investigation for PID with blood count and immunoglobulin dosage.

In the studied period, 53 children were hospitalized with severe infections in the Pediatric Intensive Care Unit, and only in seven Our findings suggest the necessity of performing PID investigation in this group of patients.

imunodeficiencias primarias diagnostico

Nuestros hallazgos confirman la necesidad de investigar las IDP en ese grupo de pacientes. Primary immunodeficiencies PIDs are rare diseases considered in isolation; however, they lrimarias a set of over different changes already described and have an estimated imunodegiciencias of 1: In general, PIDs are monogenic, hereditary diseases, which cause immunological changes and can express increased susceptibility to certain types of infections, tumors, or autoimmune diseases 12.

In previous surveys conducted by the Primaruas Immunodeficiency Foundationthe infections most associated to subsequent diagnosis of PIDs in patients in the United States were pneumonia, acute otitis media, sinusitis, tracheobronchitis, orimarias acute diarrhea, which are common in childhood 4. 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.

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, primqrias the emergence of the Brazilian Group for Immunodeficiency, which became responsible for disseminating these alert signals in the medical environment. Among the warning signs Chart 1there is an episode of severe systemic infection meningitis, osteoarthritis, and sepsis 67.

It included patients diagnosed with any serious infection admitted to the PICU from January to Januaryand excluded those with a history of hospitalization for initial trauma or postoperative for other causes. The data were rpimarias through the yearbook of admissions of the PICU and records were analyzed until the period of data collection, which took place from March to Mayi.

The data verified on the patient’s manual and digital records comprised information on age, sex, primary diagnosis, imunodeficienxias secondary diagnosis during hospitalization, presence of comorbidities, history of imunodegiciencias infections, tests performed on admission and, subsequently, hospitalization. We used a convenience sample, composed of all patients who met the inclusion criteria in the year proposed for the study.


Results were expressed by means of descriptive statistics. From January to January53 children were admitted to the PICU involved in the study with imunodeficienias diagnosis of some form of severe infectious. The mean age was 4. Pirmarias this total, four 7. The most prevalent diagnoses associated with hospitalization were pneumonia in 22 Among the 53 patients, only seven Two patients with low IgG levels alone were diagnosed with transient hypogammaglobulinemia of infancy, and priarias patient with global deficit of antibodies is one of the four patients who died during hospitalization, not having the chance to complete the investigation.

The levels of antibodies were demonstrated in graphical representation of imunodeficiencixs by age Figure 1. Among the seven patients with initial screening, only two Infections are the main manifestations of PIDs. They may occur in a recurring basis and, thus, the patient has a much larger primariqs of infections that the average for his age group, or may present more severe infections, with increased risk 8. The more severe infections in patients with PIDs occur by the deficit in combating pathogens that multiply fast, and, often require the use of antibiotics in larger doses or for longer periods than usual, to have an adequate clinical response 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 Another interesting fact is that most patients already had records of recurrent infections, which should warn for the diagnosis of primary immunodeficiency.

To improve medical knowledge about PIDs, the warning signs were developed, which have been disseminated in 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 provide a more effective treatment of the disease, reducing the number of infections and hence, the morbidity and mortality The PICUs have, as part of their target audience, patients with serious infections, precisely one of the indicative signs imunodeficienciaas PIDs and that suggest the immunological investigation.

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.

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.

The immunological investigation in patients with PIDs is individualized according to the signs and symptoms and must be performed primaris stages, according imunodeficiencis the findings in each subject 2. Thus, even if the blood count and immunoglobulins have shown normal results in two other patients investigated, other humoral imunodeficisncias 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.


These patients should be referred for further evaluation in immunology research centers, which require greater dissemination among pediatricians so that patients can be referred, investigated, and followed-up accordingly. The present study has limitations due to the retrospective data collection, with imknodeficiencias depending on the completion of the medical records of each patient.

A multicenter prospective cohort would present more reliable data about the actual need for investigation of these patients. It can be concluded that, even in a PICU of a tertiary care hospital that has a reference center for the diagnosis and treatment of PIDs, the investigation of immunodeficiencies has not been performed as a routine.

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

Nossos achados sugerem a necessidade de investigar as IDP nesse grupo de pacientes. National Center for Biotechnology InformationU. Journal List Rev Inunodeficiencias Pediatr v.

Author information Article notes Copyright and License information Disclaimer. Received Jun 28; Accepted Sep 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. 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: Open in a separate window.

Results From January to January53 children were admitted to the PICU involved in the study with primary diagnosis of some form of severe infectious. Discussion Infections are the main manifestations of PIDs. J Allergy Clin Immunol.

Associação de imunodeficiências primárias com doenças auto-imunes na infância

Primary immunodeficiency diseases in Latin America: Immune Deficiency Foundation [cited Feb]; [homepage on the Internet].

Primary Immune Deficiency Diseases in America – The first national survey of patients and specialists. Rev Bras Alerg Imunopatol. Imunopediatria [cited Feb 01]; [homepage on the Internet].

Diagnostic criteria for primary immunodeficiencies. Common variable immunodeficiency and isosporiasis: Rev Soc Bras Med Trop. Advances in the understanding and treatment of human severe combined immunodeficiency. Pulmonary complications of primary immunodeficiencies. Applying public health strategies to primary immunodeficiency diseases: Copyright and License information Disclaimer.

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