Summary Hyper-IgM Syndrome is an X-linked recessive immunodeficiency characterized by an excess of IgM, but nearly nonexistent levels of IgG, IgA, and IgE. Antigen-specific responses are usually decreased or absent. 0. Clinical characteristics: X-linked hyper IgM syndrome (HIGM1), a disorder of abnormal T- and B-cell function, is characterized by low serum concentrations of IgG, IgA, and IgE with normal or elevated serum concentrations of IgM. For the other 3 mutations, they run in an autosomal recessive manner, this is, the chances to have the condition is 25%, increasing if the parents are family between them. Generally, symptoms are similar to those of the X-linked form. Osteopenia in X-linked hyper-IgM syndrome reveals a regulatory role for CD40 ligand in osteoclastogenesis. Hyper-IgM syndrome associated with ectodermal dysplasia includes 2 diseases involved in signaling through CD40 on B cells. 4. Hyper-IgM Syndrome X-linked hyper-IgM syndrome. If blood tests show a normal or elevated level of IgM and low or absent IgG, with normal T ⦠People with this disorder have abnormal levels of proteins called antibodies or immunoglobulins. 0 % 0 % Evidence. Since the first description of patients with XHIGM by ⦠However, sometimes prophylactic antibiotic therapy will be recommended for individuals who develop chronic complications such as bronchiectasis or recurrent sinus infections. Mitogen proliferation may be normal, but NK- and T-cell cytotoxicity can be impaired. Hyper IgM syndrome is a type of primary immunodeficiency syndrome. Hyper-IgM syndrome includes several genetically determined diseases but may also be secondary to congenital rubella syndrome , use of phenytoin, T cell leukemia, or lymphomas . Again boys are affected by this genetic mutation. This happens because the patientâs T cells and B cellsâboth types of immune cellsâdonât cooperate. Lopez-Granados E, Temmerman ST, Wu L, et al. The most common (and the most clinically severe) of these is an X-linked deficiency in CD40 ligand (CD40 L). This kind of Hyper IgE syndrome is acquired by autosomal dominant inheritance whereby if one of the parents is affected, then chances of passing the abnormal gene to the child is about 50%. 0. Hyper IgM syndrome may be associated with skin problems such as sparse hair and conical teeth (called ectodermal dysplasia) due to a defect in another gene located on the X-chromosome that affects the function of the NF-KB molecule. Questions. Proc Natl Acad Sci U S A. 2007 Mar 20. This topic review discusses in detail only genetically determined forms of hyper-IgM syndrome. N/A. Mitogen proliferation may be normal, but NK- and T-cell cytotoxicity can be impaired. Thus, B cells produce only IgM; IgM levels may be normal or elevated. IDF 2015 National Conference session, "Hyper IgM Syndrome (HIGM)" was presented by Dr. Ramsay Fuleihan, MD on June 26, 2015. Diagnosis. Hyper IgE Syndrome Definition of Hyper IgE Syndrome. Symptoms of HIGM syndrome usually appear within the first 2 years of life and may include1,2: ⢠Recurrent sinus, lung, and ear infections. Hyper-IgD Syndrome Symptoms. Various X-linked and autosomal recessive/dominant mutations have been reported as the underlying cause of the d ⦠The CD40 ⦠Hyper IgM (HIGM) syndrome is a disorder in which a child's immune system produces too many IgM antibodies while not producing any IgG antibodies. The hyper IgM syndrome is a rare, inherited immune deficiency disorder resulting from defects in the CD40 ligand/CD40-signaling pathway. Topic Snapshot: A 6-month-old boy presents with a past medical history of skin infections presents with difficulty breathing, high fever, and nonproductive cough. Hyper IgM Syndrome 1. Patients with Hyper IgM syndrome have elevated levels of serum IgM immunoglobulins and reduced levels of IgG and IgA immunoglobulins in their blood. Hyper-IgM (HIGM) syndrome is a group of rare, inherited disorders that affect the bodyâs natural defense (immune) system. X-Linked Hyper IgM compromises the bodyâs ability to produce responses to pathogens such as bacteria and viruses. 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 ligand/CD40 signaling pathway. These three patients instead had mutations in the catalytic domain of uracil-DNA glycosylase, an enzyme that removes uracil from DNA. Hyper-IgM syndrome (HIGM) is a type of primary antibody deficiency characterized by the inability of B cells to switch from being IgM producing cells to being IgG, IgA, or IgE producing cells (class switch recombination deficiency). Hyper Immunoglobulin M syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by low or absent levels of serum IgG, IgA, IgE and normal or increased levels of serum IgM. 0. 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 17.4). The hyper IgM syndromes (HIGM) are a group of primary immune deficiency disorders characterized by defective CD40 signaling by B cells affecting class ⦠Primary immunodeficiency occurs when part of a personâs immune system is missing or does not work correctly. The bodies of people with primary immunodeficiency canât get rid of germs or protect themselves from new germs as well as they should. N/A. 104(12):5056-61. . Hyper IgM syndrome types 2, 4, and 5 can often be treated with immunoglobulin replacement therapy alone. The result is that children can't fight off certain types of infections. Mutations in the X-linked nuclear factor κB essential modulator protein (NEMO, IKKγ), gene (IKBKG) and the autosomal dominant defect in IκBα protein, gene (NFKBIA) are responsible for defective nuclear factor κB activation. . X-linked hyper IgM syndrome (HIGM1), a disorder of abnormal T- and B-cell function, is characterized by low serum concentrations of IgG, IgA, and IgE with normal or elevated serum concentrations of IgM. Diagnosis of hyper-IgM syndrome (HIGM) When someone experiences severe recurrent respiratory infections, or an opportunistic infection, a doctor might screen for HIGM. In this type, T cells cannot tell B... Hyper-IgM syndrome type 2 (autosomal recessive), characterized by mutations of the AICDA gene. Autosomal recessive hyper-IgM syndrome. 3. Review Topic. Introduction The initial terminology of Hyper IgM Syndrome is really X-linked immunodeficiency with hyperâ... 3. The fifth type of hyper-IgM syndrome has been characterized in three patients from France and Japan. Patients with the X-linked form may have severe neutropenia and often present during infancy with Pneumocystis jirovecii pneumonia . X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. Hyper IgM Syndrome is a very rare, and potentially life-threatening genetic mutation that severely compromises the immune system. 0. In X-linked hyper-IgM syndrome, T cells lack functional CD40 ligand and cannot signal B cells to switch. 0. Buchbinder D, Park S, Nugent D. X-linked hyper IgM syndrome: a novel sequence variant associated with an atypical mild phenotype. For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230). X-linked forms of hyper IgM are caused by defects in the CD40 ligand gene or NF-κB essential modulator, while autosomal recessive forms of hyper IgM are caused by ⦠For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230). Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. Symptoms are usually present before the age of one. Five types of hyper IgM syndrome have been characterized: Hyper-IgM syndrome type 1 (X-linked), characterized by mutations of the CD40LG gene. 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. 0. As a result, patients have decreased levels of immunoglobulin G (IgG) or IgA and normal to elevated levels of IgM in blood. Antigen-specific responses are usually decreased or absent. 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 IgM Syndrome Prof Ariyanto Harsono MD PhD SpA (K) 2. Hyper IgM Syndrome. Hyper IgM Syndrome is a very rare, one-in-a-million, and potentially life-threatening genetic mutation that severely compromises the immune system. Hyper IgM syndrome immunologic phenotype presenting with Low IgG, IgA, and IgE levels with normal or increased IgM levels The term hyper-IgM is a misnomer (IgM levels are not necessarily high) The relative excess of IgM is due to a defect in class- switch recombination (CSR) In certain cases somatic hypermutation (SHM) is also affected Uygungil B, Bonilla F, Lederman H. J Allergy Clin ⦠Lucy Liu 0 % Topic. What is hyper-IgM syndrome? This occurs due to defective class-switching in B-cells, leaving B-cells only able to produce IgM antibodies. The most common form of Hyper IgM is X-Linked Hyper IgM, which primarily affects boys, except in rare cases. The symptoms are similar to hyper IgM syndrome type 2, but the AICDA gene is intact. In X-linked hyper-IgM syndrome, B cells produce only IgM, not other types of immunoglobulin. Hyper-immunoglobulin M syndrome is an X-linked primary immunodeficiency disease caused by mutations in the CD40 ligand gene. From OMIM 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. HIES is a rare primary immunodeficiency characterized by recurrent eczema, skin... History of Hyper IgE Syndrome. These infections are usually caused by bacteria.