RESUMO
INTRODUCTION: Primary immunodeficiency diseases (PID) are a heterogeneous group of inherited disorders, characterised by recurrent severe infections, autoimmunity and lymphoproliferation. Despite impressive progress in identification of novel PID, there is an unfortunate lack of awareness among physicians in identification of patients with PID, especially in non-capital cities of countries worldwide. RESULT: This study was performed in a single-centre paediatric hospital in Northern Iran during a 21-year period (1994-2015). Ninety-four patients were included in this study. The majority of cases had antibody deficiencies (37.23%), followed by well-defined syndromes with immunodeficiency in 16 (17.02%), phagocytic disorders in 15 patients (15.95%), complement deficiencies in 15 patients (15.95%), immunodeficiencies affecting cellular and humoral immunity in nine patients (9.57%), disease of immune dysregulation in three (3.19%), and defects in intrinsic and innate immunity in one (1.06%). CONCLUSION: It seems that there are major variations in frequency of different types of PID in different regions of a country. Therefore, reporting local data could provide better ideas to improve the local health care system strategists and quality of care of PID patients
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Assuntos
Humanos , Masculino , Feminino , Criança , Síndromes de Imunodeficiência/epidemiologia , Agamaglobulinemia/diagnóstico , Agamaglobulinemia/fisiopatologia , Sistema Fagocitário Mononuclear/anormalidades , Imunidade Humoral/genética , Imunidade Inata/genética , Irã (Geográfico)/epidemiologia , Síndromes de Imunodeficiência/sangue , Ensaio de Imunoadsorção Enzimática/métodosRESUMO
A 54-year-old female presented with a pulmonary infection that resolved completely with antibiotic treatment. Peripheral blood films showed features characteristic of splenic hypofunction, and radiolabelling studies confirmed an absence of splenic reticulo-endothelial cell activity, which is typical of functional asplenia. The patient had a remote history of watery diarrhea but no clinical and laboratory features of malabsorption. Extensive upper and lower gastrointestinal tract biopsy studies revealed histopathological features of collagenous colitis without gastric or small intestinal inflammatory changes or epithelial lymphocytosis. Hyposplenism has been associated with different gastrointestinal disorders, particularly celiac disease. This is the first report of functional asplenia and microscopic collagenous colitis.
