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Revista Cubana de Medicina Militar

versão On-line ISSN 1561-3046

Resumo

GONZALEZ-COSTA, Maricarmen et al. Clinical-demographic characteristics of patient with primary immunodeficiencies. Rev. cuban. med. mil. [online]. 2023, vol.52, n.2  Epub 01-Jun-2023. ISSN 1561-3046.

Introduction:

Primary immunodeficiencies are a heterogeneous group of genetic disorders that affect the functioning of the immune system. Primary immunodeficiencies can present with variable clinical features in early childhood and adulthood.

Objective:

To characterize patients diagnosed with primary immunodeficiencies clinically and demographically.

Methods:

A cross-sectional, descriptive, retrospective case series study was carried out with 39 patients of both sexes, diagnosed with primary immunodeficiencies, according to the latest International Union of Immunological Societies classification; attended from January 2012 to December 2021 in Granma. Age (at onset of symptoms, diagnosis, and delay in diagnosis), sex, family history, and clinical manifestations were evaluated. Data from medical records were collected. They were processed using descriptive statistics.

Results:

The age of onset of symptoms ranged from one month of life to 37 years, with a mean of 6.31 years; the average age of diagnosis was 11.89 years. Humoral deficiencies represented 69.23% of all primary immunodeficiencies and relative IgA deficiency predominated (11 cases). A family history of primary immunodeficiencies was reported by 12 patients. Recurrent infections (71.79%) and allergies (61.53%) were the most frequent manifestations; the mortality rate was 2.56%.

Conclusions:

Primary immunodeficiencies were more frequent in childhood, with the same behavior in both sexes. Infections, allergies, and a family history of primary immunodeficiency were important findings. Humoral immunodeficiencies were the most prevalent.

Palavras-chave : primary immune deficiency; inborn errors of immunity; primary immune deficiency registry.

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