The most common form of hyper igm syndrome is of xlinked inheritance and caused by cd40 ligand gene mutations. Diagnosis is mainly clinical but includes serum igd level and possibly gene testing. Xlinked hyper igm syndrome is a condition that affects the immune system and occurs almost exclusively in males. Xlinked hyper igm syndrome higm type i is a combined immune deficiency that is characterized by antibody deficiency as well as an impaired ability of t cells to activate monocytes and dendritic cells. Hyper igm syndromes nord national organization for rare. The most common and the most clinically severe of these is an xlinked deficiency in cd40 ligand cd40 l. Hyperigd syndrome genetic and rare diseases information. Ils presentent par consequent des niveaux reduits d igg et d iga, et des niveaux normaux ou accrus d igm. Jan 09, 2019 what are the risk factors for xlinked hyper igm syndrome. Hyperigmsyndrom immunologie, allergien msd manual profi.
We have analyzed the selfreactive repertoires of igm and igg abs in the serum of 19 patients with hyperigm syndrome him. Find an expert in hyper igm syndrome we are compiling a list of physicians with expertise and experience in treating patients with hyper igm syndrome. Oct 23, 2019 xlinked immunodeficiency with hyper immunoglobulin 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 igm syndrome type 4 which is a defect in class switch recombination downstream of the aicda gene that does not impair somatic hypermutation. The hyper igm syndrome is a rare, inherited immune deficiency disorder and somatic. Autosomal dominant hyper ige syndrome nord national. One would expect opportunistic infections in any immunodeficiency syndrome. Md, phd, cleveland clinic lerner college of medicine at case western reserve university. As a result, patients have decreased levels of igg and iga and normal or elevated levels of igm. Hyper igm syndrome, which is characterized by the presence of normal or elevated serum levels of igm and low igg and iga, may be caused by one of at least 10 gene defects table 17.
Introduction the initial terminology of hyper igm syndrome is really xlinked immunodeficiency with hyper immunoglobulin 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. Immunodeficiency disorder, hyper igm syndrome, irnmunoglobulin replacement therapy hyper igm syndrome casereport a sevenyearmale child was referred to our hospital with fever, headache, and altered sensorium for two days. Xlinked hyper igm syndrome omim 308230 is a genetic immunodeficiency syndrome that presents with bacterial and opportunistic infections from an early age. Other forms of hyper igm are inherited as autosomal recessive traits and can. These individuals often present with severe, recurrent sinopulmonary infections, pneumocystis jeroveci aka pneumocystis carinii pneumonia pcp, chronic diarrhea and may have intermittent or persistent neutropenia. It is characterized by recurrent infections, very low or undetectable levels of igg and iga, normal to increased serum igm, and is rare. Hyperigm syndrome is characterized by normal or high levels of immunoglobulin m igm and decreased levels or absence of other immunoglobulins. Nov 19, 2011 it is importantto keep in mind the natural change in ige levels over time. Hyperigmsyndrom immunstorungen msd manual ausgabe fur. Patients with hyper igm higm syndrome are susceptible to recurrent and severe infections and in some types of higm syndrome opportunistic infections and an increased risk of cancer as well.
Hyper igm syndrome type 2 is estimated to affect fewer than 1 in 1,000,000 people in the general population. Hyper igm syndrome is a very rare, oneinamillion, and potentially lifethreatening genetic mutation that severely compromises the immune system. The most common form of hyper igm is xlinked hyper igm, which primarily affects boys, except in rare cases. This page is about a rare disease, the name of the disease is hyperimmunoglobulinemia d with periodic fever syndrome. Immunoglobulin ig class switch recombination deficiencies are characterized by elevated serum immunoglobulin m igm levels and a considerable deficiency in immunoglobulins g igg, a iga and e ige. The normal ige level is less than iu per milliliter, as indicated by the dark shading.
In xlinked hyper igm syndrome, t cells lack functional cd40 ligand and cannot signal b cells to switch. The autosomal recessive forms of hyper igm syndrome are extremely rare. The clinical course of xlinked hyper igm syndrome is similar to that of xlinked brutontype agammaglobulinemia except for a greater frequency of autoimmune hematologic disorders neutropenia, hemolytic anemia, thrombocytopenia. Predisposing factors a positive family history of xlinked hyper igm syndrome is the only known risk factor for the condition. Hyper igm syndromes is a group of primary immune deficiency disorders characterized by defective cd40 signaling. Osteopenia in x linked hyperigm syndrome reveals a regulatory role for cd40 ligand in osteoclastogenesis. Xlinked hyper igm syndrome genetics home reference nih. Hyperigm syndrome how is hyperigm syndrome abbreviated. Pdf hyper igm syndrome are group to disorders characterized by elevated serum level of igm and. Lawton ar, 3rd, buckley rh, fu sm, coustansmith e, herrod hg, campana d.
Hyperigm higm syndrome is a group of rare, inherited disorders that affect the bodys natural defense immune system. The disease is characterized by decreased levels of immunoglobulin g igg in the blood and normal or elevated levels of igm. Hyper igm syndrome type 5 characterized by mutations of the ung gene. Hyperigm syndrome definition of hyperigm syndrome by. Find an expert in hyper igm syndrome the hyper igm foundation. In terms of treatment for hyper igm syndrome, there is the use of allogeneic hematopoietic cell transplantation. Hyper igm syndrome type 2 higm2 is a rare immunodeficiency characterized by normal or elevated serum igm levels with absence of igg, iga, and ige, resulting in a profound susceptibility to bacterial infections. Hyper igd syndrome is the less severe form of a metabolic disorder. For a discussion of genetic heterogeneity of immunodeficiency with hyper igm, see higm1 308230. Immunodeficiency with hyperigm was described by israelasselain et al. Hyper igm syndrome associated with defective cd40mediated b cell activation. Plusieurs anomalies genetiques peuvent causer le syndrome d. 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. Syndrome of serum igm in patients with hyperigm defective self.
Lopezgranados e, temmerman st, wu l, reynolds jc, follmann d, liu s et al. Diese form des higmsyndroms wird als xchromosomales hyperigmsyndrom xhigms bezeichnet. Hyper igm syndrome an overview sciencedirect topics. Hyper igm syndrome patients with the hyper igm syndrome have an inability to switch their antibody immunoglobulin production from igm to igg, iga, and ige. Episodes usually last 4 to 6 days and may be triggered by physiologic stress, such as vaccination or minor trauma.
People with this disorder have abnormal levels of proteins called antibodies or immunoglobulins. Among primary hyperigm syndrome, genetic heterogeneity is supported by the existence of xlinked, autosomal recessive, and possibly autosomal dominant variants. Conley me, larche m, bonagura vr, lawton ar, 3rd, buckley rh, fu sm, coustansmith e, herrod hg, campana d. Pdf hyperigm syndrome due to cd40 deficiency higm3 is a rare form of primary. This disease is caused by mutations in cd40 ligand cd40l, a molecule that is expressed on the surface of activated t cells. The xlinked hyper igm xhigm syndrome is an uncommon primary immunodeficiency disease caused by mutations in the gene for cd40 ligand and characterized by normal or elevated serum igm, reduced levels of igg and iga, and defective tcell function. The most common form of hyper igm syndrome is of xlinked inheritance and caused by. The other forms of hyper igm syndrome have only been described in the medical literature in a very small number of people. Type two hyperigm syndrome caused by mutation in activation. Idf 2015 national conference session, hyper igm syndrome higm was presented by dr. It is important to note that having a risk factor does not mean that one will get the condition. Autosomal dominant hyper ige syndrome adhies is a rare multisystem primary immunodeficiency disorder. Symptoms of higm syndrome usually appear within the first 2 years of life and may include1,2.
It is the most common form of hyper igm syndrome, accounting for approximately 70% of cases. Hyper igm syndrome types 1 and 3 are clinical similar, with patients displaying a more severe phenotype compared to types 2 and 5. Jun 26, 2017 hyper igd syndrome is the less severe form of a metabolic disorder known as mevalonate kinase deficiency. Examples of primary immunodeficiency diseases, by affected component of the immune system designation gene genetic locus antibody deficiencies xlinked agammaglobu btk xg21. Hyper igm syndrome prof ariyanto harsono md phd spak 2. Sep 12, 2017 idf 2015 national conference session, hyper igm syndrome higm was presented by dr. Hyper igd syndrome is a rare autosomal recessive disorder in which recurring attacks of chills and fever begin during the first year of life. Hyper ige syndrome hies due to dock8 deficiency is an autosomal recessive ar primary combined immunodeficiency which results in significant morbidity and mortality at a young age. Pdf clinical, immunological, and molecular characterization of. Hyperigd syndrome pediatrics merck manuals professional. Hyper igd syndrome is the less severe form of a metabolic disorder known as mevalonate kinase deficiency. A number of different genetic defects can cause the hyper igm syndrome. He was born at term to nonconsanguineouslymarried parents.
Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. The putative genetic lesion is in the aicda gene found at 12p. Both primary and acquired forms of the disease have been reported. Symptoms often become apparent early during infancy or childhood. Hyperige syndrome hies due to dock8 deficiency is an autosomal recessive ar primary combined immunodeficiency which results in. The disorder is characterized by repeated bacterial infections of the skin and lungs pneumonia, skeletal abnormalities, and characteristic facial features. As a result, people are more susceptible to bacterial infections. Unlike other hyper igm syndromes, the type 2 patients identified thus far did not present with a history of opportunistic infections. Patients with the xlinked form may have severe neutropenia and often present during infancy with pneumocystis jirovecii pneumonia. Listed below are the leading higm experts and physicians who have expertise or have an active clinical interest in following patients with higm.
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