Congenital sensory neuropathy as a differential diagnosis for phagocytic immunodeficiency

There are few reports about congenital indifference to pain or Hereditary and Sensory Autonomic Neuropathy [HSAN]. Several investigations for pathophysiology of this syndrome have been performed and different classifications about it. In this report we present a case of HSAN type II with general absence of pain and self amputations and leprosy-like damage of extremities which was suspected to be phagocytic immunodeficiency due to past history of repeated ulcer and abscess formation

Defectos en la fagocitosis: aspectos clínicos, moleculares y terapéuticos / Defects in phagocytosis: clinical, molecular and therapeutic aspects

Se realiza una revisión sobre los defectos presentes en la función de los fagocitos que provocan trastornos inmunitarios. Se exponen las características clínicas, moleculares e inmunológicas que caracterizan a cada desorden fagocítico, así como los métodos de laboratorio utilizados para el diagnóstico de estos. Se hace referencia a los tratamientos terapéuticos efectivos que eliminan o atenúan las manifestaciones clínicas de cada defecto de la fagocitosis estudiado.

Pulmonary Features of Hyperimmunoglobulin E (Job's)syndrome / 결핵

Hyperimmunoglobulin E syndrome, otherwise known as Job's syndrome, is an immune disorder characterized by an abnormal elevation of the circulating immunoglobulin E level, and recurrent infections of the skin and sinopulmo nar tract. The syndrome has various ppulmonary featurea, e.g., pneumonia, pneumatocele, pneumothorax, lung abscesses and empyema. We report a case of hyperimmunoglobulin E syndrome, with various respiratory clinical manifestation. Medical therapy, including prophylactic antibiotics, has been the cornerstone for the treatment of hyperimmunoglobulin E syndrome. Even if surgical intervention is required, minimal pulmonary parenchymal resection is recommended.

Actividad fagocítica de polimorfonucleares en pacientes con hipersensibilidad a la aspirina, asma y pólipos nasales / Phagocytic function in patients with aspirine sensitive asthma and hypertrophy rhinosinusitis with nasal polyps

La eficiencia de la función fagocítica depende de la óptima actividad de cada estadio del proceso fagocítico. Los pacientes con hipersensibilidad a la aspirina, asma, rinosinusitis hipertrófica con pólipos nasales ®triada de la aspirina¼ (pacientes ASA) tienen indicios de defectos en la fagocitosis. Se estudiaron 34 pacientes ASA y 34 sujetos sanos. Las células polimorfonucleares, quimioluminiscencia (CL) de los pacientes ASA se estudiaron in vitro. La actividad fagocítica se midió con la técnica de quimioluminiscencia. No se encontraron diferencias estadísticas con la prueba de U de Mann Whitney (p=NS). No hubo diferencias en la capacidad fagocítica de polimorfonucleares de pacientes ASA y controles sanos. A pesar de los avances de las ciencias básicas, la causa y patogenesis de los pólipos nasales no se ha aclarado, particularmente la tinosinusitis, asma intrínseca y la intolerancia a farmacos no esteroides

Biochemical changes in polymorphonuclear leucocytes in diabetic patients.

A study on the functional ability of polymorphonuclear leucocytes (PMNL) indicates that the total lysosomal enzyme levels viz. Beta-glucuronidase, lysozyme, acid phosphatase and alkaline phosphatase were not altered in diabetics, compared to that in control subjects. However, the findings also reveal that the release of these lysosomal enzymes in response to a particulate stimulus is impaired in diabetics. This suggests that the bactericidal capacity of these cells, which are involved in phagocytosis, is impaired in diabetics, making them more vulnerable to infections.

Enzimopatías, inmunodeficiencia y trastornos de la función fagocítica / Enzymopathies, immune deficiency, and disorders of phagocytic function

Se presenta una revisión sobre las enzimopatías hereditarias asociadas con distintos trastornos inmunológicos. La deficiencia de adenosin deaminasa (ADA) se observa en una parte de los pacientes con inmunodeficiencia combinada grave, mientras que la disminución de la actividad de la nucleosido fosforilasa está presente en individuos con disfunción de los linfocitos T. El defecto de NADPH2-oxidasa y G6PD leucocitaria puede estar asociado con una enfermedad granulomatosa crónica y disminución de la actividad bactericida de los leucocitos respectivamente

Changes of phagocytic and bactericidal activities of neutrophils in relation to age

In the present study, we estimated phagocytic activity and bactericidal activity of neutrophils in a number of healthy persons representing a wide range of ages from 21 to 92 years. Individuals suffering from any disorders known to compromise host defense system were excluded from the study. To confirm the normality of different biologic systems, each individual was subjected to thorough clinical examination and laboratory investigations. The individuals were classified according to age into three groups. Group I from 21 to 39 years, group II from 40 to 58 years and group III from 62-92 years. We demonstrated a highly significant age-related decline of the phagocytic and bactericidal activities of neutrophils. A significant negative correlation was detected between age and phagocytic function in group II only, and a significant positive correlation was demonstrated between phagocytic power and bactericidal activity in the same group. It could be concluded that some of the functional abilities of neutrophils including phagocytic and bactericidal activities, do decline with age. This finding could result in decreased effectiveness of non specific defense system in the aged population. Such in age-associated effect may explain at least partially, the increased liability of old persons to infectious diseases

Effect of in vitro formed immune complexes on macrophage functions of Mycobacterium leprae infected mice.

Nonspecific macrophage functions were studied in Mycobacterium leprae infected and preformed immune complex (IC) administered normal (NI) and thymectomized/irradiated (TRI) mice at different time periods. Uninfected controls given IC were also included. Significant decrease in the chemotaxis, phagocytosis and bactericidal activities of macrophages obtained from infected groups compared to their controls were observed. Phagocytic and chemotactic activities of macrophages were normal but intracellular killing was seen to be depressed in studies conducted in normal and thymectomized immunosuppressed groups (Vaishnavi et al., 1985, Kumar et al, 1987) which were not administered with preformed IC.

Distúrbios primários de fagócitos: apresentaçäo de 16 casos / Primary disorders of the phagocytes: report of 16 cases

Os autores apresentam os principais achados clínicos e laboratoriais de 16 crianças portadoras de distúrbios de fagócitos atendidas no Ambulatório de Imunopatologia do Instituto da Criança "Prof. Pedro de Alcantara". Os diagnósticos verificados foram Doença Granulomatosa Crônica da Infância (B), Síndrome de Chediak-Higashi (3), Neutropenia Persistente (3), Síndrome de Job (1) e Defeito de Quimiotaxia (1). Estes pacientes constituem 20% dos casos de Imunodeficiências Primárias de nossa casuística e as principais manifestaçöes clínicas foram de infecçöes piogênicas recorrentes, acometendo pele, mucosa oral e trato respiratório, com a formçäo de abcessos. Acompanham o quadro clínico, hepatoesplenomegalia e adenomegalia supurativa. O presente trabalho destaca a importância da pesquisa destes distúrbios da imunidade para que o tratamento seja instituído precocemente