RESUMO
Primary immunodeficiency diseases (PID) are congenital disorders secondary to an impaired immune response. Infections, autoimmune disorders, atopy, and lymphoproliferative syndromes are commonly associated with this disorder. OBJECTIVE: To present and discuss 3 infants diagnosed with PID. CLINICAL CASES: The cases are presented of three patients with PID diagnosed during their first admission to a Paediatric Intensive Critical Care Unit. The first patient, a 4-month-old infant affected by a severe pneumonia, and was diagnosed as a Severe Combined Immunodeficiency Disease. The second patient was an 8-month-old infant with Candida lusitaniae mesenteric adenitis, and diagnosed with a Chronic Granulomatous Disease. The last patient, a 6-month-old infant presented with ecthyma gangrenosum and X-linked agammaglobulinaemia. CONCLUSION: PID should be suspected when an infectious disease does not responde to the appropriate therapy within the expected period. An update of each disease is presented.
Assuntos
Agamaglobulinemia/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doença Granulomatosa Crônica/diagnóstico , Síndromes de Imunodeficiência/diagnóstico , Agamaglobulinemia/imunologia , Agamaglobulinemia/fisiopatologia , Doenças Genéticas Ligadas ao Cromossomo X/imunologia , Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia , Doença Granulomatosa Crônica/imunologia , Doença Granulomatosa Crônica/fisiopatologia , Humanos , Síndromes de Imunodeficiência/imunologia , Síndromes de Imunodeficiência/fisiopatologia , Lactente , Unidades de Terapia Intensiva Pediátrica , Masculino , Índice de Gravidade de DoençaRESUMO
Las inmunodeficiencias primarias (IDP) son enfermedades congénitas causadas por alteraciones cuantitativas o funcionales de la respuesta inmunitaria. Se caracterizan por predisposición a infecciones, autoinmunidad, alergia y enfermedades linfoproliferativas. Objetivo: Reportar 3 casos de lactantes menores con IDP que se manifestaron como infecciones graves de curso inhabitual. Casos clínicos: Se presentan 3 pacientes diagnosticados como IDP en su estadía en la Unidad de Paciente Crítico Pediátrico. El primero corresponde a un lactante de 4 meses con neumonía multifocal extensa a quien se diagnosticó un síndrome de inmunodeficiencia combinada severa ligada a X; el segundo es un lactante de 8 meses que se manifestó como una adenitis mesentérica por Candida lusitaniae y que correspondió a enfermedad granulomatosa crónica, y el tercero se trata de un lactante de 6 meses que se presentó con un ectima por Pseudomona y se diagnosticó una agammaglobulinemia ligada a X. Conclusión: El diagnóstico de IDP debe sospecharse en presencia de una infección de evolución arrastrada que no responde a tratamiento habitual. Se discuten los casos y se presenta una puesta al día de las patologías diagnosticadas.
Primary immunodeficiency diseases (PID) are congenital disorders secondary to an impaired immune response. Infections, autoimmune disorders, atopy, and lymphoproliferative syndromes are commonly associated with this disorder. Objective: To present and discuss 3 infants diagnosed with PID. Clinical cases: The cases are presented of three patients with PID diagnosed during their first admission to a Paediatric Intensive Critical Care Unit. The first patient, a 4-month-old infant affected by a severe pneumonia, and was diagnosed as a Severe Combined Immunodeficiency Disease. The second patient was an 8-month-old infant with Candida lusitaniae mesenteric adenitis, and diagnosed with a Chronic Granulomatous Disease. The last patient, a 6-month-old infant presented with ecthyma gangrenosum and X-linked agammaglobulinaemia. Conclusion: PID should be suspected when an infectious disease does not responde to the appropriate therapy within the expected period. An update of each disease is presented.
Assuntos
Humanos , Masculino , Lactente , Agamaglobulinemia/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doença Granulomatosa Crônica/diagnóstico , Síndromes de Imunodeficiência/diagnóstico , Índice de Gravidade de Doença , Unidades de Terapia Intensiva Pediátrica , Agamaglobulinemia/fisiopatologia , Agamaglobulinemia/imunologia , Doença Granulomatosa Crônica/imunologia , Síndromes de Imunodeficiência/fisiopatologiaRESUMO
INTRODUCTION: Common variable immunodeficiency and X-linked agammaglobulinaemia are primary immunodeficiencies classified as antibody deficiencies, and they both result in hypogammaglobulinaemia. OBJECTIVE: Evaluate the lipid profile and other cardiovascular risk biomarkers in CVID and XLA patients. METHODS: In total, 24 patients and 12 healthy controls matched by age and gender were included in the study. We evaluated anthropometric measurements, and seric total cholesterol (TC), high-density lipoprotein cholesterol (HDL-c), low-density lipoprotein cholesterol (LDL-c), triglycerides (TG), apo A-I, small dense LDL (sdLDL), C-reactive protein (CRP), and tumour necrosis factor alpha (TNF-alpha), myeloperoxidase (MPO), cholesteryl ester transfer protein (CETP), and lecithin cholesterol acyltransferase (LCAT) were assessed. RESULTS: CRP (p = 0.008) and TNF-alpha (p < 0.001) concentrations were significantly higher, whereas HDL-c (p = 0.025) and apo A-I (p = 0.013) levels were significantly lower in patients than in the controls. In the patient group, a negative and significant correlation was observed between HDL-c and TNF-alpha (r = -0.406; p = 0.049) and between HDL-c and TG (r = -0.641; p = 0.001). CONCLUSION: Common variable immunodeficiency and X-linked agammaglobulinaemia patients presented themselves with increased inflammatory markers associated with a decreased HDL-c and apo A-I levels, which can predispose to a high cardiovascular risk.
Assuntos
Agamaglobulinemia/fisiopatologia , Doenças Cardiovasculares/etiologia , Imunodeficiência de Variável Comum/fisiopatologia , Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia , Mediadores da Inflamação/sangue , Lipídeos/sangue , Regulação para Cima , Adolescente , Adulto , Agamaglobulinemia/sangue , Agamaglobulinemia/imunologia , Apolipoproteína A-I/sangue , Biomarcadores/sangue , Índice de Massa Corporal , Brasil/epidemiologia , Doenças Cardiovasculares/epidemiologia , Criança , HDL-Colesterol/sangue , Imunodeficiência de Variável Comum/sangue , Imunodeficiência de Variável Comum/imunologia , Estudos Transversais , Regulação para Baixo , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/sangue , Doenças Genéticas Ligadas ao Cromossomo X/imunologia , Humanos , Masculino , Pessoa de Meia-Idade , Risco , Adulto JovemRESUMO
We report a 26 years old female with a common variable immunodeficiency diagnoses at the age of 21 with recurrent pulmonary and sinusal bacterial infections that had a clinical and laboratory remission. At the moment of diagnosis she had agammaglobulinemia in the protein electrophoresis, very low level of IgG and IgM and absence of IgA. Absolute counts of CD4(+) T lymphocytes were low and CD8(+) were normal. B lymphocyte count was normal. Five years later a repeated study revealed normal levels of all these parameters, excepting IgA that continued to be undetectable. We propose that the remission could be due to a decrease in suppressor activity of T lymphocytes. There is no documented evidence of infectious factors or the use of immunological therapy that could have influenced the course of the disease
Assuntos
Humanos , Feminino , Adulto , Agamaglobulinemia/fisiopatologia , Imunodeficiência de Variável Comum/fisiopatologia , Imunodeficiência de Variável Comum/imunologia , Remissão EspontâneaRESUMO
Las inmunodeficiencias son un grupo heterogéneo de enfermedades que se clasifican en primarias o secundarias. Las primarias corresponden a un pequeño grupo de enfermedades bien caracterizadas y que son habitualmente congénitas; las secundarias, son bastante más frecuentes y acompañan a la gran mayoría de las enfermedades crónicas en adultos. En el presente resumen se muestra en forma general la clasificación de estas enfermedades, sus características clínicas y de laboratorio y lo más importante, se da una pauta guía para enfrentar este tipo de problemas partiendo desde su identificaciíon precoz y algunas medidas terapéuticas de apoyo