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Órgano Oficial del Colegio Mexicano de Alergia, Asma e Inmunología Pediátrica y de la Asociación Latinoamericana de Pediatría

2024, Number 1

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Alerg Asma Inmunol Pediatr 2024; 33 (1)

Inborn errors of immunity: a 15 years´ experience in the Regional Hospital ''Gral. Ignacio Zaragoza''

Navarro-González PI, Azamar-Jácome AA, González-Luna RH, Nava-Ramírez IC

Language: Spanish
References: 20
Page: 14-20
PDF size: 155.18 Kb.


ABSTRACT

Introduction: inborn errors of immunity (IEI) are a cluster of disorders characterized by immune system disfunction due to an intrinsic or genetic defect. IEI are thought to be rare. In México there are supposed to be 10,600 patients, however we only have knowledge of 1,213 as reported by the 20 registered centers in our country. That means that 80% of the patients may not have been diagnosed yet. Objective: to describe the epidemiological situation of IEI in the Regional Hospital "Gral. Ignacio Zaragoza" in the last 15 years. Material and methods: we performed a retrospective, observational, transversal and descriptive study. We analyzed the files of the Regional Hospital "Gral. Ignacio Zaragoza" from January 2006 to March 2022 for Primary Immunodeficiencies. Then we collected the information for those who met criteria for IEI according to European Society of Immunodeficiencies (ESID) 2014 and/or had molecular diagnosis. Results: 10 patients met the inclusion criteria. The average age at diagnosis was 15.5 years with relation male:female ratio of 1.5:1. The most frequent initial manifestation was infectious processes (pneumonia and gastroenteritis) (60%). The most common immunodeficiency group was the antibody-predominant immunodeficiency group (50%). The most frequent comorbidity was chronic malnutrition (30%) and 60% of the patients presented some complication at diagnosis (mainly pulmonary). Conclusions: timely diagnosis and treatment are the two elements that most influence survival and quality of life in patients with IEI. In our study we found a significant delay in diagnosis, which was associated with a high prevalence of complications. It is important to spread greater awareness of this type of diseases, in order to achieve timely diagnosis and treatment.


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