Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by recurrent, life-threatening bacterial and fungal infections of the skin, airways, lymph nodes, liver, brain, bones. These most commonly occur in organs contact with outside world (lungs, gastrointestinal tract, skin), as well nodes that drain these structures. While involvement can be seen many organs, there no k...

primary adrenal insufficiency (addison’s disease) is due to adrenocortical disease. this study is about a 40 year old man who had been referred to a hematologist who assessed him for anemia. he  had been affected by a periodic paresthesia one month prior to his visit to the physician. according to the clinical presentation, macrocytic anemia and hypersegmentation of pmn in pbs, bma/b was perfor...

conclusions co-occurrence of pbc with wd is rare, which can cause diffusely intrahepatic copper deposition. early liver biopsy and genetic testing are necessary for the diagnosis. the combination of ursodeoxycholic acid with zinc and sodium dimercaptopropane sulfonate is effective. introduction both primary biliary cirrhosis (pbc) and wilson’s disease (wd) can cause copper retention in the live...

Primary immunodeficiency disorder (PID) refers to a heterogeneous group of over 130 disorders that result from defects in immune system development and/or function. PIDs are broadly classified as disorders of adaptive immunity (i.e., T-cell, B-cell or combined immunodeficiencies) or of innate immunity (e.g., phagocyte and complement disorders). Although the clinical manifestations of PIDs are h...

We retrospectively analyzed the outcomes of hematopoietic stem cell transplantation in 7 patients with primary immunodeficiency diseases treated at the National University Hospital, Singapore, over the period from December 1996 to January 2010. The primary immunodeficiency diseases managed were X-linked hyperimmunoglobulin M syndrome (n = 3), severe combined immunodeficiency (n = 1), leukocyte ...

Common Variable Immunodeficiency (CVID) is one of the most common causes of Primary Immunodeficiency Disorders (PIDs) and of Primary Hypogammaglobulinemia in adulthood. Clinical features include variable combinations of infectious diseases, autoimmune diseases, lymphoproliferative disorders and gastrointestinal diseases. In this case report, delayed detection of the disease had a negative progn...

Chronic granulomatous disease is a primary immunodeficiency caused by mutations in the genes encoding subunits of the phagocytic NADPH oxidase system. Patients can present with severe, recurrent infections and noninfectious conditions. Among the latter, inflammatory manifestations are predominant, especially granulomas and colitis. In this article, we systematically review the possible mechanis...

Background: Hyper-Immunoglobulin M (IgM) syndrome (HIGM) is a rare primary immunodeficiency in which defective B-cell isotype switching results in a phenotype characterized by elevated or normal serum IgM levels and low levels of other Ig classes, leading to an increased susceptibility to infection, neutropenia, autoimmune disorders, and malignancies. In this disease, a mutation occurs in the C...