What is mevalonic aciduria?

What is mevalonic aciduria?

Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy.[4932] During these fever episodes, people with mevalonic aciduria may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal …

What is Hids disease?

Hyperimmunoglobulin D syndrome (HIDS; MIM #260920) is a rare, autosomal-recessive genetic disorder characterized by recurrent febrile episodes typically associated with lymphadenopathy, abdominal pain, and an elevated serum polyclonal immunoglobulin D (IgD) level.

How common is IgD?

Immunoglobulin D (IgD) myeloma is a rare subtype of MM, accounting for approximately 1% to 2% of all MM patients [2]. It occurs at a young age, often accompanied with a high disease burden and short median survival (18–21 months) [3, 4].

What causes HIDS?

It’s an autosomal recessive genetic disorder. This means both copies of the gene in each of your cells have the mutation that causes HIDS. You get one from your dad and one from your mom. Parents with the mutation often don’t have the disorder.

What causes low IgD levels?

Low serum IgD was not dependent on age and was not related to sex (44). It has also been suggested that the low IgD level is genetically determined, with autosomal recessive inheritance (44). However, low serum IgD was seen in 44% of children of parents with high IgD, making autosomal inheritance unlikely (44).

What is Hyper IgM syndrome?

Summary. Hyper IgM syndromes are a group of rare disorders in which the immune system does not function properly. They are classified as rare primary immunodeficiency disorders, which are a group of disorders characterized by irregularities in the cell development and/or cell maturation process of the immune system.

What is the function of IgD antibodies?

IgD functions as a B cell antigen receptor and may participate in B cell maturation, maintenance, activation, and silencing. Although the exact function is still unclear, IgD may be involved in humoral immune responses by regulating B cell selection and homeostasis.

Why does Hyper IgM cause neutropenia?

Some people with X-linked hyper IgM syndrome have low levels of white blood cells called neutrophils (neutropenia). Affected individuals may develop autoimmune disorders, neurologic complications from brain and spinal cord (central nervous system ) infections, liver disease, and gastrointestinal tumors.

What is the difference between IgM and IgD?

IgM-only B cells reacted more strongly to ‘self’ molecules than IgD-only cells, which suggests that IgM is more sensitive to ‘self’ than IgD. In fact, in mice which are at risk for an autoimmune disease similar to lupus, deleting the IgM receptor prevented antibodies against ‘self’ from being produced.

What is immunodeficiency with hyper IgM?

Immunodeficiency with hyper-IgM (HIM) is a rare primary immunodeficiency characterized by the production of normal to increased amounts of IgM antibody of questionable quality and an inability to produce sufficient quantities of IgG and IgA.

What is the pathophysiology of Hyper IgM Syndrome?

Hyper-IgM syndrome is an immunoglobulin (Ig) deficiency characterized by normal or elevated serum IgM levels and decreased levels or absence of other serum immunoglobulins, resulting in susceptibility to bacterial infections.

What are the characteristics of the Hyper IgM Syndrome?

What is the difference between IgG IgE and IgA antibodies?

Immunoglobulin E (IgE) – usually an immediate response to a foreign substance that has entered the body. Immunoglobulin G (IgG) – usually food sensitivities and are subtler and can last longer than the traditional IgE allergy. Immunoglobulin A (IgA) – plays a role in the immune function of mucous membranes.