Symptoms of higm syndrome usually appear within the first 2 years of life and may include1,2. The autosomal recessive forms of hyper igm syndrome are extremely rare. As a result, patients have decreased levels of igg and iga and normal or elevated levels of igm. Answer the following questions to ensure that you have the necessary background knowledge for completing the case study in class. What are the risk factors for xlinked hyper igm syndrome. It is important to note that having a risk factor does not mean that one will get the condition. Mevalonate kinase deficiency is a spectrum of disease that can range from milder symptoms to severe, even lifethreatening complications. The most common form of hyper igm is xlinked hyper igm, which primarily affects boys, except in rare cases. Cd40 ligand mutations in xlinked immunodeficiency with hyperigm.
Lurie childrens hospital of chicago, northwestern university feinberg school of medicine, chicago, il, usa. Immunodeficiency with hyper igm type 3 genetic and rare. Absence of igd cd27 memory b cell population in xlinked. The hyper igm syndromes are a group of rare inherited immune deficiency disorders. Ils presentent par consequent des niveaux reduits d igg et d iga, et des niveaux normaux ou accrus d igm.
Hyper igm syndrome associated with defective cd40mediated b. Pdf on jan 1, 2016, amitabh singh and others published hyper ige syndrome. Mevalonate kinase deficiency nord national organization. Xlinked hyper igm syndrome genetics home reference nih. Mar 01, 2020 a registry supports research by collecting of information about patients that share something in common, such as being diagnosed with immunodeficiency with hyper igm type 3. Hyper igm syndrome presenting as chronic suppurative lung disease. Sometimes the cd40 on blymphocytes does not function properly and that can also lead to hyper igm syndrome. National center for case study teaching in science hyper. B essential modulator, while autosomal recessive forms of hyper igm are caused by defects in cd40 or. Patients with the hyper hyper igm syndrome have an inability to switch their antibody immunoglobulin production from igm to igg, iga, and ige. 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. Hyperigm syndrome type 5 characterized by mutations of the ung gene.
Hyper igm syndrome type 5 characterized by mutations of the ung gene. 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. Hyper igm syndrome type 1, caused by mutations in the cd40lg gene, is by far the most common type, accounting for approximately 6570% of higm cases. Enable javascript to view the expandcollapse boxes. An xlinked form of hyper igm syndrome xhim 1 has been shown to result from mutations in the cd40 ligand cd154. Sep 12, 2017 idf 2015 national conference session, hyper igm syndrome higm was presented by dr.
The hyper igm syndrome higm is one of the rarest primary immunodeficiencies. Hyperigm higm syndrome is a group of rare, inherited disorders that affect the bodys natural defense immune system. Hyper igm immunodeficiency a primary dysfunction of b lymphocyte isotype switching daniel levitt, patricia haber, kennethrich, and max d. National center for case study teaching in science hyperigm syndrome by gopalan and kist page 2 the case th ree yearold adam presented with a fever and frequent episodes of coughing. A number of different genetic defects can cause the hyper igm syndrome. Pdf hyperigm syndrome a case report and a clinical. 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. Type two hyperigm syndrome caused by mutation in activation. Winkelstein, in comprehensive pediatric hospital medicine, 2007. Hyper igm syndrome is a primary immunodeficiency disorder in which the childs body fails to produce certain specific types of antibodies.
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. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. Diese form des higmsyndroms wird als xchromosomales hyperigmsyndrom xhigms bezeichnet. Hyper igm syndrome type 4 which is a defect in class switch recombination downstream of the aicda gene that does not impair somatic hypermutation. One would expect opportunistic infections in any immunodeficiency syndrome. Xlinked hyper igm syndrome omim 308230 is a genetic immunodeficiency syndrome that presents with bacterial and opportunistic infections from an early age. Patients have low to absent serum igg, iga and ige with normal to elevated levels of igm. Hyper igm syndrome an immunodeficiency disorder venkata murthy, vishwanath, chandrashekara, nagashree, radha krishna hegde, prashanth abstract asevenyearmale child presented with history ofrecurrent life threatening infections associated with low iga and igg levels and significant elevation ofigm levels.
Hyper igd syndrome is the less severe form of a metabolic disorder known as mevalonate kinase deficiency. Exon 1 contains the intracellular domain cd40l is a type ii membrane protein, the transmembrane region and the first 6 amino acids of the extracellu lar domain. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. 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 patients with the hyper igm syndrome have an inability to switch their antibody immunoglobulin production from igm to igg, iga, and ige. Jun 26, 2017 hyper igd syndrome is the less severe form of a metabolic disorder known as mevalonate kinase deficiency. 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 characterized by an increased susceptibility to infections and markedly decreased levels of serum igg, iga, and ige, but normal or elevated levels of igm 1, 2. Type two hyper igm syndrome caused by mutation in activationinduced cytidine deaminase yi zhu1, shigeaki nonoyama1, tomohiro morio1, masamichi muramatsu2, tasuku honjo2 and shuki mizutani1 1 department of human ontogeny and childhood development, tokyo medical and dental university, school of medicine, tokyo, japan. Xlinked immunodeficiency with hyper igm clinical presentation. The genetic mutation leading to defect in cd40 ligand is in the gene located on the xchromosome and hyper igm syndrome due to cd40 ligand defect is seen in boys.
In terms of treatment for hyper igm syndrome, there is the use of allogeneic hematopoietic cell transplantation. Affected individuals can fall anywhere along this spectrum and it is important to remember every person is unique and the disorder may affect them differently from how it affects another person. Hyperigm syndrome is characterized by normal or high levels of immunoglobulin m igm and decreased levels or absence of other immunoglobulins. Hyper igm syndromes nord national organization for rare. Hyperigd syndrome genetic and rare diseases information. Hyperigm syndrome type 4 which is a defect in class switch recombination downstream of the aicda gene that does not impair somatic hypermutation. See also overview of immunodeficiency disorders and approach to the. People with this disorder have abnormal levels of proteins called antibodies or immunoglobulins. Individuals with him are susceptible to recurrent bacterial infections and are at an increased risk of autoimmune disorders and cancer at an early age. Hyper igm syndrome medigoo health medical tests information. Hyper igm syndromes is a group of primary immune deficiency disorders characterized by. An external file that holds a picture, illustration, etc. Immunodeficiency with hyperigm syndrome him3 is a rare. Unlike other hyper igm syndromes, the type 2 patients identified thus far did not present with a history of opportunistic infections.
Hyper igm syndrome 3 symptoms, diagnosis, treatments and. Syndrome of serum igm in patients with hyperigm defective self. The syndrome itself almost always only affects boys as girls have two xs and are mostly just carriers. As a result, patients with this disease have decreased levels of igg and iga but normal or elevated levels of igm in their blood. Hyper igm syndrome an overview sciencedirect topics. What links here related changes upload file special pages permanent link. Hyper igm syndrome can be caused by at least four different molecular genetic defects, 16 the most common of which affects the gene on the x chromosome encoding cd40 ligand, a tcell surface molecule responsible for instructing b cells to switch from igm to igg, iga, and ige production. It is the most common form of hyper igm syndrome, accounting for approximately 70% of cases. Hyper igm is so rare 1 in 1,000,000 that it is never something that is tested for and most doctors have probably never even heard of it. Hyper igm syndrome is a very rare, oneinamillion, and potentially lifethreatening genetic mutation that severely compromises the immune system.
The other forms of hyper igm syndrome have only been described in the medical literature in a very small number of people. Get a printable copy pdf file of the complete article 1. Xlinked hyper igm is a genetic mutation passed along on the x chromosome. Clinical and molecular features of xlinked hyper igm syndrome. Jun 25, 20 the hyper igm syndromes are a group of rare inherited immune deficiency disorders characterized by impairment of immunoglobulin isotype switching resulting from defects in the cd40 ligandcd40 signaling pathway. 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. Xlinked hyper igm syndrome is a condition that affects the immune system and occurs almost exclusively in males. Hyper igm s national center for case study teaching in science. Hyper igm syndrome is a rare inherited immunodeficiency disorder which causes frequent infections involving the ears, eyes, sinuses, lungs, skin, respiratory tract and other areas of the body. The term primary means that the disorder is present from birth, in contrast to secondary immunodeficiencies such as aids, which are acquired later in life by previously healthy persons. Hyper igm syndrome prof ariyanto harsono md phd spak 2. Predisposing factors a positive family history of xlinked hyper igm syndrome is the only known risk factor for the condition.