Hyper igm syndromes nord national organization for rare. Recurrent pericarditis in a child with hyper igd syndrome responding to etanercept case of inflammation affecting the heart in hids. It is in the 4 september 2001 issue of annals of internal medicine volume 5, pages 338343. Symptoms are usually present before the age of one.
Xlinked immunodeficiency with hyperimmunoglobulin m xhigm or higm1 is a rare form of primary immunodeficiency disease caused by mutations in the gene that codes for cd40 ligand cd40l, also known as cd154 and gp39. Hyper igd syndrome is a rare autosomal recessive disorder characterized as recurrent bouts of fever and chills. We report a new case of hyperigd syndrome, a recently described disease characterized by recurrent episodes of fever with headache, bilateral cervical lymphadenopathy and, more rarely, abdominal pain and diarrhoea. As a result, patients with this disease have decreased levels of igg and iga but normal or elevated levels of igm in their blood. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. Mevalonate kinase deficiency nord national organization for. Hyperimmunoglobulin a in the hyperimmunoglobulinemia d. Xlinked hyper igm syndrome genetics home reference nih. Mevalonate kinase deficiency nord national organization.
The serum igd levels in the parents and other relatives of the patients was without exception normal. Hyperigd syndrome clusters in children of dutch, french, and other northern european. See also overview of immunodeficiency disorders and approach to the. In this report a girl complained of periodic fever and abdominal symptoms accompanied with high levels of mevalonic acid in urine and serum. Hids is also referred to as hyperimmunoglobulinemia d and periodic fever syndrome and is to be understood as part of the broad phenotypic spectrum associated with mevalonate kinase deficiency. We report a fouryearold japanese girl with hyper igd and periodic fever syndrome. Pdf hyperigd syndrome or mevalonate kinase deficiency. Hyperigd syndrome is a rare autosomal recessive disorder in which recurring attacks of chills and fever begin during the first year of life. Mevalonate kinase deficiency is a spectrum of disease, ranging from mild to severe. A rare genetic disorder characterized by recurring attacks of chills and fever that usually start before the first birthday and last for 4 to 6 days, usually accompanied by swollen glands in the neck and abdominal pain with vomiting or diarrhea. 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. Patients with higm syndrome have an inability to switch from the production of antibodies of the igm type to antibodies of the igg, iga or ige types. In this report a girl complained of periodic fever and abdominal symptoms.
Hyper igd syndrome hids is part of this spectrum and is characterized by episodes or attacks of fever associated with other symptoms including joint pain arthralgia, muscle pain myalgia, skin rash and abdominal pain. It is a rare inherited autoinflammatory syndrome that presents with recurrent episodes of fever, skin rash, abdominal pain, headaches and enlarged. The disease affects people of all ethnic groups, but is. Sep 04, 2001 the summary below is from the full report titled molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyperigd and periodic fever syndrome. Hyperigd syndrome hids mim 260920, also known as mevalonate kinase deficiency, is an. There is a first report of hyper igd syndrome hids of which the genomic study was done in japan. More detailed information about the symptoms, causes, and treatments of hyperigd syndrome is available below. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for hyperigd syndrome. Hyperimmunoglobulinaemia d with periodic fever syndrome mim 260920 is more commonly known as hyper igd syndrome or hids. Oct 23, 2019 xlinked immunodeficiency with hyperimmunoglobulin m xhigm or higm1 is a rare form of primary immunodeficiency disease caused by mutations in the gene that codes for cd40 ligand cd40l, also known as cd154 and gp39. Cd40 ligand is expressed on activated t lymphocytes and is necessary for t cells to induce b cells to undergo immunoglobulin. Apart from elevated immunoglobulin d igd levels 100 iuml, there are high iga levels in the majority of cases. Hyperimmunoglobulinemia d with periodic fever syndrome hids is an autosomal recessive. Jun 26, 2017 hyper igd syndrome is the less severe form of a metabolic disorder known as mevalonate kinase deficiency.
Hyper immunoglobulin a in the hyperimmunoglobulinemia d syndrome article pdf available in clinical and diagnostic laboratory immunology 81. The other forms of hyper igm syndrome have only been described in the medical literature in a very small number of people. A case of hyper igd and periodic fever syndrome in japan. The duration and frequency of episodes is variable. Collectively, these conditions are called hyperige syndromes, or hies. Hyperimmunoglobulinaemia d with periodic fever syndrome. If a patient presents with symptoms suggestive of the syndrome, igd and iga should be measured.
Fever of undetermined origin may be familial and have a periodic course. Pdf the hyperimmunoglobulinemia d syndrome hids, socalled mevalonate kinase deficiency, is caused by recessive mutations. Hyperigd syndrome pediatrics merck manuals professional. It is considered an autoinflammatory disease, with recurrent episodic or chronic unexplained inflammation, characterized by periodic episodes of fever, and other symptoms such as joint pain, swollen lymph nodes, skin rash, headaches, and abdominal pain. Il1 inhibition is remarkably free of serious side effects. Links to hyperigd syndrome hids research and information. The frequency of the disease, even in the netherlands, is very low. Hyper igd syndrome hids, mevalonate kinase deficiency. The international hyper igd syndrome registry, based in nijmegen, the netherlands, in which clinical information is collected from physicians worldwide, currently holds data. People with hids have persistently high levels of an antibody known as immunoglobulin d igd. Yes are approved or conditionally approved by new york state and do. Apart from elevated immunoglobulin d igd levels 100. Prototypic autoinflammatory syndromes are fmf, hyper igd.
They pointed out that hyperigd syndrome almost always develops in infancy. Hyperigd syndrome symptoms, diagnosis, treatments and. Polyclonal increase of serum igd is the most important laboratory finding. Sep 14, 2011 case report of a new mutation of the mvk gene in a child with a severe hyper igd syndrome. Hyperimmunoglobulin a in the hyperimmunoglobulinemia d syndrome. It is a rare inherited autoinflammatory syndrome that presents with recurrent episodes of fever, skin rash, abdominal pain, headaches and enlarged lymph glands tha. Hyperigd syndrome the merck manual for healthcare professionals. Hyper igm syndrome type 2 is estimated to affect fewer than 1 in 1,000,000 people in the general population. Background hyper igd syndrome is a minor form of mevalonate kinase deficiency caused by a its gene mutation and considered an autoinflammatory disease inherited in an autosomal recessive manner, characterised by periodic episodes of fever, arthralgia, lymphadenopathy, skin rash, headaches, and abdominal pain. Hyper igd syndrome medigoo health medical tests information. Hyperigd syndrome pediatrics msd manual professional edition.
Other symptoms may include headache, joint pain, arthritis of the large joints, and reddish spots macules and bumps on. What is hyperimmunoglobulinaemia d with periodic fever syndrome hyperimmunoglobulinaemia d with periodic fever syndrome mim 260920 is more commonly known as hyperigd syndrome or hids. This article discusses three syndromes of hereditary periodic fever. Due to the progress in understanding of this condition, achieved in the recent. Jul 10, 2019 hyperimmunoglobulin e syndrome hies was first described as job syndrome in 1966, when 2 patients were reported with eczematous dermatitis, recurrent staphylococcal boils, hyperextensible jointsrecurrent bone fractures, and distinctive coarse faces. Hyperigm syndrome higm is a descriptive term that reflects a common laboratory abnormality high serum igm level with low serum iga and igg levels found in several otherwise dissimilar types of immunodeficiencies table 925. This page is about a rare disease, the name of the disease is hyperimmunoglobulinemia d with periodic fever syndrome. Hyperimmunoglobulin e syndrome hies was first described as job syndrome in 1966, when 2 patients were reported with eczematous dermatitis, recurrent staphylococcal boils, hyperextensible jointsrecurrent bone fractures, and distinctive coarse faces. Hyperigd syndrome symptoms, causes, diagnosis, and treatment information for hyperigd syndrome hyperigd syndrome with alternative diagnoses, fulltext book chapters, misdiagnosis, research treatments, prevention, and prognosis. People with this disorder have abnormal levels of proteins called antibodies or immunoglobulins. Pdf on feb 15, 20, fulvio celsi and others published. Hyperigm 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.
Article pdf available in seminars in immunopathology 374 may 2015 with 259 reads how we measure reads. Can genetics help diagnose the hyperigd and periodic fever. Prototypic autoinflammatory syndromes are fmf, hyperigd. A rare genetic disorder where high levels of the immunoglobulin d cause recurring episodes of fever as well as other symptoms. They pointed out that hyper igd syndrome almost always develops in infancy. In this study, we will give an overview of the primary research on mevalonate kinase deficiency published in the past.
Hyper igd syndrome is the less severe form of a metabolic disorder known as mevalonate kinase deficiency. The condition is hard to diagnose because there are several types of periodic fever as well as multiple causes of recurring fevers. It is a rare inherited autoinflammatory syndrome that presents with recurrent episodes of fever, skin rash, abdominal pain, headaches and enlarged lymph glands that begin in infancy. Hyperigd syndrome new york clients tests displaying the status new york approved. However, because these symptoms, such as a high fever, are typical in early childhood, many doctors and parents may not recognize the symptoms as being abnormal until the child is older. Can genetics help diagnose the hyperigd and periodic. In 1984, researchers identified a type of periodic fever that they called the hyperigd and periodic fever syndrome hids. Mutations in the gene encoding mevalonate kinase constitute the molecular defect in hids.
Hyperigd syndrome genetic and rare diseases information. Mutations in the gene encoding mevalonate kinase cause hyper igd and periodic fever syndrome. Pdf mevalonate kinase deficiency hyper igd syndrome with. Mevalonic aciduria and hyperimmunoglobinemia d syndrome. Etiopathogenesis and differences with familial mediterranean. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Attacks last about three to seven days, usually separated by one to twomonth, symptomfree intervals. Effect of etanercept and anakinra on inflammatory attacks in the hyperigd syndrome. It causes immunodeficiency and susceptibility to infections.
The hyperimmunoglobulinemia d syndrome hids is an autosomal recessive disorder characterized by recurrent febrile attacks with abdominal, articular, and skin manifestations. Hyper igd syndrome prof ariyanto harsono md phd spak 2. Ideal sources for wikipedia s health content are defined in the guideline wikipedia. Episodes usually last 4 to 6 days and may be triggered by physiologic stress, such as vaccination or minor trauma. Other conditions, such as severe eczema, can lead to extremely high ige levels that are not caused by a syndrome at all.
It is considered an autoinflammatory disease, with recurrent episodic or chronic unexplained inflammation, characterized by periodic episodes of fever, and other symptoms such as joint pain, swollen lymph nodes, skin rash, headaches, and. Many different syndromes are known to lead to high levels of an antibody called immunoglobulin e, or ige. Ab0044 hyper igd syndrome treatment with hydroxychloroquine. In 1984, researchers identified a type of periodic fever that they called the hyper igd and periodic fever syndrome hids. Hyper igd syndrome hids mim 260920, also known as mevalonate kinase deficiency, is an autosomal recessively inherited disorder, but it is far less prevalent than fmf. No more than 300 cases have been described worldwide. Here are links to possibly useful sources of information about hyperigd syndrome. The study of hyper igd syndrome has been mentioned in research publications which can be found using our bioinformatics tool below. Mevalonate kinase deficiency mkd, or hyper igd syndrome. Yes are approved or conditionally approved by new york state and do not require an nys npl exemption.
Hyper igm syndrome is caused by genetic mutations of genes involved in immune response and affects a very small part of population. Despite the name, high levels of igm are inconsistently found in all forms of hyperigm syndrome. These attacks can occur spontaneously or be triggered by infections. The autosomal recessive forms of hyper igm syndrome are extremely rare. More detailed information about the symptoms, causes, and treatments of hyper igd syndrome is available below. Mevalonate kinase deficiency mkd also known as hyper igd syndrome hids mkd hids is an inherited auto inflammatory disease that is most often caused by an inherited autosomal recessive gene mutation of the mevalonate kinase gene mvk, from both parents. Hyperigd syndrome hids is a hereditary autoinflammatory disorder caused by mutations in the mevalonate kinase gene. The patient and family should be prepared for several possible outcomes of hids. Hyper igm syndrome is a problem where b cells are unable to undergo antibody classswitching, meaning that they can produce igm antibodies, or immunoglobulins, but struggle to produce other types. Hyper igd syndrome hids, mevalonate kinase deficiency mvk gene. Introduction hyperimmunoglobulinaemia d with periodic fever syndrome is more commonly known as hyper igd syndrome or hids. Disease bioinformatics research of hyper igd syndrome has been linked to hypergammaglobulinemia, familial mediterranean fever, brucellosis, deficiency of mevalonate kinase, inflammation.
Sep 04, 2001 the condition is hard to diagnose because there are several types of periodic fever as well as multiple causes of recurring fevers. The disease affects people of all ethnic groups, but is relatively common among the dutch. Mevalonate kinase deficiency is a spectrum of disease, ranging from mild to severe complications. Winkelstein, in comprehensive pediatric hospital medicine, 2007. Hyperigd syndrome an overview sciencedirect topics. Hyperigm syndrome merck manuals professional edition. A rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction. Xlinked hyper igm syndrome is a condition that affects the immune system and occurs almost exclusively in males. In detail, hids patients do have residual activity of.
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