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First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes
(Springer, 2014-02-01)
Hyper-IgM (HIGM) syndrome is a heterogeneous group of disorders characterized by normal or elevated serum IgM levels associated with absent or decreased IgG, IgA and IgE. Here we summarize data from the HIGM syndrome ...
Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure
(Associação Brasileira de Divulgação Científica, 2008)
Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, Elejalde), RAB27A (GS2) or MLPH (GS3) genes. Typical features of all three subtypes of this disease include pigmentary ...
Avaliação do estado nutricional, do consumo alimentar e do nível sérico do zinco de crianças com a síndrome de Down.
(Universidade Estadual Paulista (Unesp), 2019-06-25)
A criança com a Síndrome de Down (SD) apresenta maior incidência de diversas complicações clínicas e a deficiência de zinco tem sido considerada problema de saúde pública, levando a maiores prejuízos e repercussões negativas ...
Pediatric allergy and immunology in Brazil
(Wiley-Blackwell, 2013-06-01)
The subspecialty of pediatric allergy and immunology in Brazil is in its early years and progressing steadily. This review highlights the research developed in the past years aiming to show the characteristics of allergic ...
Growth in Chilean infants with chromosome 22q11 microdeletion syndrome
(John Wiley & Sons, 2012)
Chromosome 22q11 microdeletion syndrome has a wide range of clinical manifestations including congenital heart malformations, palatal defects, endocrine abnormalities, immunologic deficits, learning difficulties, and an ...
Growth in Chilean infants with chromosome 22q11 microdeletion syndrome
(John Wiley & Sons, 2012)
Chromosome 22q11 microdeletion syndrome has a wide range of clinical manifestations including congenital heart malformations, palatal defects, endocrine abnormalities, immunologic deficits, learning difficulties, and an ...
Severe type 1 upgrading leprosy reaction in a renal transplant recipient: a paradoxical manifestation associated with deficiency of antigen-specific regulatory T-cells?
(BioMed Central, 2017)
Abstract
Background
Due to its chronic subclinical course and large spectrum of manifestations, leprosy often represents a diagnostic challenge. Even with proper anti-mycobacteria ...
Cytokine and nitric oxide production in an adult patient with staphylococcal scalded skin syndrome.
(Universidad del Zulia, 2009)
Expanding the Clinical and Genetic Spectrum of Human CD40L Deficiency: The Occurrence of Paracoccidioidomycosis and Other Unusual Infections in Brazilian Patients
(SPRINGER/PLENUM PUBLISHERSNEW YORK, 2012)
CD40 ligand (CD40L) deficiency or X-linked hyper-IgM syndrome (X-HIGM) is a well-described primary immunodeficiency in which Pneumocystis jiroveci pneumonia is a common clinical feature. We have identified an unusual high ...