a 3.5 month-old girl was admitted with silvery gray hair, light  colored skin, recurrent diarrhea, chest infections, hepatosplenomegaly, episodes of pancytopenia, and hemophagocytosis in the bone marrow. light microscopy of hair showed characteristic large and irregular clumps of melanin in the middle of hair shaft. peripheral blood smear examination did not show giant granules in granulocytes....

R ECENT CLINICAL AND LABORATORY INVESTIGATIONS have led to the description of a group of syndromes related to impaired bactericidal functions of neutrophils and monocytes.13 Although the pathophysiology of this group of disorders is unknown, detailed immunologic, biochemical and morphologic studies have elucidated some clues to the basic defects leading to impairment of phagocyte function. The ...

R ECENT CLINICAL AND LABORATORY INVESTIGATIONS have led to the description of a group of syndromes related to impaired bactericidal functions of neutrophils and monocytes.13 Although the pathophysiology of this group of disorders is unknown, detailed immunologic, biochemical and morphologic studies have elucidated some clues to the basic defects leading to impairment of phagocyte function. The ...

R ECENT CLINICAL AND LABORATORY INVESTIGATIONS have led to the description of a group of syndromes related to impaired bactericidal functions of neutrophils and monocytes.13 Although the pathophysiology of this group of disorders is unknown, detailed immunologic, biochemical and morphologic studies have elucidated some clues to the basic defects leading to impairment of phagocyte function. The ...

R ECENT CLINICAL AND LABORATORY INVESTIGATIONS have led to the description of a group of syndromes related to impaired bactericidal functions of neutrophils and monocytes.13 Although the pathophysiology of this group of disorders is unknown, detailed immunologic, biochemical and morphologic studies have elucidated some clues to the basic defects leading to impairment of phagocyte function. The ...

background: primary immunodeficiency disorders (pid) are a group of hereditary disorders characterized by an increased susceptibility to severe and recurrent infections, autoimmunity, lymphoproliferative disorders, and malignancy. objective: to evaluate the demographic and clinical data of pid patients diagnosed in a referral pediatric hospital. method: all pid cases with a confirmed diagnosis,...

Background: Primary immunodeficiency disorders (PID) are a group of hereditary disorders characterized by an increased susceptibility to severe and recurrent infections, autoimmunity, lymphoproliferative disorders, and malignancy. Objective: To evaluate the demographic and clinical data of PID patients diagnosed in a referral pediatric hospital. Method: All PID cases with a confirmed diagnosis,...

The analysis of specific gene defects in disorders of phagocyte function has shed light on important aspects of the innate immune response. Each disorder has distinctive features in the clinical presentation and characteristic microbial pathogens. Chronic granulomatous disease has been extensively studied both in patient series and in mouse models. New insights continue to be obtained regarding...