Von Recklinghausen's disease, now classified as neurofibromatosis type 1 (NF-1), is a relatively frequent autosomal dominant disorder and has clinical manifestations, such as cafe-au-lait spots, freckling, generalised cutaneus neurofibroma, Lisch nodules, short stature, optic glioma and central nervous system tumours. In adults, anaemia in the course of NF-1 is usually due to gastrointestinal t...

We report a case of a 15-year-old boy with autoimmune hepatitis lacking common serologic markers and normal gammaglobulinemia associated with immune thrombocytopenia and family history of psoriasis. He presented to our department with a 4-year history of a cervical posterior lymphadenopathy and recent petechiae. Previous laboratory results 6 months before already showed hepatocellular injury. A...

Autoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which is essential for selftolerance. Clinical manifestations are widely variable. Although the classic triad is composed by mucocutaneous candidias...

Graves' disease is an autoimmune disorder, caused by thyroid-stimulating antibodies, which bind to and activate the thyrotropin receptor on thyroid cells, inducing the synthesis and release of thyroid hormones. It is a polygenic and multifactorial disease that develops as a result of complex interaction between genetic susceptibility and environmental and/or endogenous factors. Graves' disease ...

Recent papers published had suggested the association of malignancy with autoimmune disease. Numerous autoimmune phenomena have been reported in cancer patients. There is a bidirectional relationship between autoimmunity and malignancy. Patients with autoimmune conditions develop neoplastic diseases and, analogously, various autoantibodies have been detected in the sera of patients with hematol...

The expression of self-antigen in the thymus is believed to be responsible for the deletion of autoreactive T lymphocytes, a critical process in the maintenance of unresponsiveness to self. The Autoimmune regulator (Aire) gene, which is defective in the disorder autoimmune polyglandular syndrome type 1, has been shown to promote the thymic expression of self-antigens. A clear link, however, bet...

Autoimmune lymphoproliferative Syndrome (ALPS) is a rare inherited disorder of apoptosis. It usually presents with chronic lymphadenopathy, splenomegaly, and symptomatic cytopenia in a child. Herein, we report a 14-year-old boy with symptoms misdiagnosed as hemophagocytic lymphohistiocytosis who was treated before ALPS was diagnosed for the patient. This case should alert pediatricians to consi...

Biermer’s disease also called: Addison’s anemia or in old textbooks, pernicious anemia, is an autoimmune disease, caused by impaired absorption of cobalamin (vitamin B12) owing to the neutralization of intrinsic factor action in the setting of immune atrophic gastritis [1]. In adults and elderly patients, this form of megaloblastic anemia is one of the leading causes of cobalamin deficiency, wi...

background: there are only a very small number of reports which discuss subtype, sex distribution, clinical features and laboratory characteristics of autoimmune hepatitis in children. the aim of this study was both to define the clinical features, biochemical and histological findings and also to determine the age and sex related distribution of autoimmune hepatitis (aih). materials and method...

Introduction Neonatal Onset Multisystem Inflammatory Disorder (NOMID) is the most severe of the Cryopyrin-Associated Periodic Syndromes (CAPS) spectrum [1]. Given the persistent nature of CAPS, symptoms may be confused with autoimmune diseases. However, unlike autoimmune diseases, autoinflammatory disorders are not associated with high-titer autoantibodies or antigen-specific T cells. Here we d...