More than one million Americans suffer from autism spectrum disorders that also include an estimated one-half million people, mainly children, with a clinical diagnosis of autism. The disorder is identified not by a specific pathology but by behavioral manifestations. It is now generally believed that genetics are likely to explain no more than 10% of all autistic cases while the remainder 90% ...

The family of a woman with multiple autoimmune diseases has been investigated. Clinical evidence of an autoimmune disorder was detected in two relatives, and five others had serological and immunoglobulin abnormalities. It is suggested that there is an inherited predisposition to develop immunological abnormalities, and that a number of associated autoimmune diseases may develop in families in ...

Autoimmune Lymphoproliferative syndrome (ALPS) is an inherited disorder manifesting with autoimmune cytopenia, lymphadenopathy and splenomegaly. The differential diagnosis includes infections, autoimmune disorders or malignancies. The disease is characterized by accumulation of double negative (CD3+ CD4- CD8-) T cells (DNT) in the peripheral blood. We describe a case and review the literature.

Background. Autoimmune encephalitis is a disorder characterised by the subacute onset of seizures, short-term memory loss, and psychiatric and behavioural symptoms. Initially, it was recognised as a paraneoplastic disorder, but recently a subgroup of patients without systemic cancer was identified. Case Description. We describe a 20-year-old woman with Turner syndrome presenting with a treatmen...

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type 1 (APS-1), is a rare genetic disorder caused most often by biallelic mutations in the AIRE gene. Classic clinical findings of disease are chronic mucocutaneous candidiasis and autoimmunity that primarily targets endocrine tissues, such hypoparathyroidism adrenal insuffic...

The etiopathogenesis of many autoimmune disorders has not been identified. The aim of this paper is to focus on the involvement of bacterial exposure, as an environmental factor, in the pathogenesis of autoimmune pancreatitis (AIP), which is broadly categorized as autoimmune disorders involving pancreatic lesions. Avirulent and/or commensal bacteria, which may have an important role(s) as initi...

autoimmune lymphoproliferative syndrome (alps) is a rare, inherited disorder of immune dysregulation secondary to defective lymphocyte apoptosis. this leads to uninhibited proliferation of lymphoid tissue manifesting with lymphadenopathy, hepatosplenomegaly, autoimmune cytopenia, and an increased risk of lymphoid malignancy. we report a 2 year old boy with fever, generalized lymphadenopathy, he...