Primary Immunodeficiency Diseases in Different Age Groups: A Report on 1,008 Cases from a Single Brazilian Reference Center

Autor(es):Mostrar menos -

Carneiro-Sampaio, Magda ^{[1, 2, 3]} ; Moraes-Vasconcelos, Dewton ^[4] ; Kokron, Cristina M. ^[5] ; Jacob, Cristina M. A. ^{[1, 2]} ; Toledo-Barros, Myrthes ^[5] ; Dorna, Mayra B. ^{[1, 2]} ; Watanabe, Leticia A. ^{[1, 2]} ; Marinho, Ana Karolina B. B. ^[5] ; Moschione Castro, Ana Paula ^{[1, 2]} ; Pastorino, Antonio C. ^{[1, 2]} ; Silva, Clovis Artur A. ^{[1, 2]} ; Ferreira, Mauricio D. ^[4] ; Rizzo, Luiz V. ^[5] ; Kalil, Jorge E. ^[5] ; Duarte, Alberto J. S. ^[4]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo HC FMUSP, Dept Pediat, Div Allergy & Immunol, Sao Paulo - Brazil

^[2] Univ Sao Paulo HC FMUSP, Div Rheumatol, Fac Med, Hosp Clin, Sao Paulo - Brazil

^[3] Hosp Clin FMUSP, Inst Crianca, BR-05403900 Sao Paulo - Brazil

^[4] Univ Sao Paulo HC FMUSP, Dept Dermatol, Fac Med, Hosp Clin, Sao Paulo - Brazil

^[5] Univ Sao Paulo HC FMUSP, Dept Internal Med, Div Clin Immunol & Allergy, Hosp Clin, Fac Med, Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: JOURNAL OF CLINICAL IMMUNOLOGY; v. 33, n. 4, p. 716-724, MAY 2013.
• Citações Web of Science: 10

Resumo

Primary immunodeficiencies (PIDs) represent a large group of diseases that affect all age groups. Although PIDs have been recognized as rare diseases, there is epidemiological evidence suggesting that their real prevalence has been underestimated. We performed an evaluation of a series of 1,008 infants, children, adolescents and adults with well-defined PIDs from a single Brazilian center, regarding age at diagnosis, gender and PID category according to the International Union of Immunological Societies classification. Antibody deficiencies were the most common category in the whole series (61 %) for all age groups, with the exception of <2-year-old patients (only 15 %). In the >30-year-old group, antibody deficiencies comprised 84 % of the diagnoses, mostly consisting of common variable immunodeficiency, IgA deficiency and IgM deficiency. Combined immunodeficiencies represented the most frequent category in <2-years-old patients. Most congenital defects of phagocytes were identified in patients <5 -years of age, as were the diseases of immune dysregulation, with the exception of APECED. DiGeorge syndrome and ataxia-telangiectasia were the most frequent entities in the category of well-defined syndromes, which were mostly identified in patients <10-years of age. Males represented three-quarters and two-thirds of <2 -years-old and 2-5-years -old patients, respectively, whereas females predominated among the >30-year-old patients. Our data indicated that some PIDs were only detected at early ages, likely because affected patients do not survive long. In addition, our data pointed out that different strategies should be used to search for PIDs in infants and young children as compared to older patients. (AU)

• Processo FAPESP: 08/58238-4 - Autoimunidade na criança: investigação das bases moleculares e celulares da autoimunidade de início precoce
• Beneficiário: Magda Maria Sales Carneiro-Sampaio
• Modalidade de apoio: Auxílio à Pesquisa - Temático