Sjögren's syndrome can present in a heterogeneous manner with symptoms varying from systemic features such as unexplained fever, weight loss and neurological manifestations to the more typical symptoms of dry mucus membranes. There is discussion of the wide differential diagnosis, followed by a brief overview of the diagnosis, extraglandular manifestations and pathogenesis of primary Sjögren's ...

Autoimmune liver disease is a heterogeneous group of diseases in which the body’s immune cells and antibodies are directed against its own components tissue. The main from this are: autoimmune hepatitis (AIH), primary biliary cholangitis (PBC), sclerosing cholangitis. Most often there classical monovariants disease, but some cases, manifestations two forms observed at once. term “overlap syndro...

INTRODUCTION Joubert syndrome is a rare congenital disorder characterized by brain malformation, developmental delay with hypotonia, ocular motor apraxia, and breathing abnormalities. Joubert syndrome is a genetically highly heterogeneous ciliopathy disorder with 23 identified causative genes. The diagnosis is based on brain imaging showing the "molar tooth sign" with cerebellar vermis agenesis...

The autoimmune/inflammatory syndrome induced by adjuvants (ASIA), also known as Shoenfeld’s syndrome, encompasses several autoimmune conditions andphenomena that are following the exposure to substances with adjuvant activity. disease spectrum is heterogeneous in respect clinical presentation well severity of manifestations. Some genetically predisposed individuals can develop generalized no...

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism...

Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should ...

Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts), hearing impairment, mild spondyloepiphyseal dysplasia, and/or early onset arthritis. Stickler syndrome type I (ocular form) is...

McGraw-Hill Concise Dictionary of Modern Medicine [1] defines pulmonary-renal syndrome (PRS) as an idiopathic condition characterized by pulmonary hemorrhage, rapid progressive glomerulonephritis, and positive autoantibodies. Pulmonary-renal syndrome may be also defined as a heterogeneous group of multisystem diseases – e.g. Goodpasture syndrome, Wegener's granulomatosis, collagen vascular dise...

Patients with autosomal-dominant (AD) hyper immunoglobulin E (IgE) syndrome (HIES) or Job syndrome develop frequent dermatologic and pulmonary infections. As patients have an extreme elevation of IgE levels, this database analysis study sought to study the association between AD HIES, Job syndrome, and anaphylaxis. HIES is a heterogeneous group of immune disorders characterized by extremely ele...