Pdf hyperigm syndrome a case report and a clinical. Hyper igm syndromes nord national organization for rare. 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. Download pdf immunodeficiency with hyper igm him is a rare primary or secondary disorder characterized by very low serum igg and iga but either a. In this type, b cells cannot receive the signal from t cells to switch classes. As a result, patients with this disease have decreased levels of igg and iga but normal or elevated levels of igm in their blood. If the inline pdf is not rendering correctly, you can download the pdf file here. The autosomal recessive forms of hyper igm syndrome are extremely rare. Because there was not enough money for hsct after diagnosis, their parents decided to give up treatment and rejected all inspection. Hyper igm syndrome higm is an antibody deficiency syndrome characterized by impaired classswitch recombination which allows antibody isotype production to change from igm to igg, iga, or ige. Although he had no previous history consistent with pid, further evaluation revealed xlinked hyper igm higm syndrome, and he received hematopoietic cell transplantation for the underlying higm syndrome. As a result, patients have decreased levels of igg and iga and normal or elevated levels of igm. Jobs is also very rare at about 300 cases currently in the literature. Hyperigm syndrome is an xlinked genetic disorder more commonly affecting males than females.
With many genetic defects in the hyper igm syndrome identified, it is possible to diagnose patients definitively, to perform genetic screening, and to delineate the clinical manifestations of the different diseases in this syndrome. The hyper igm syndromean evolving story pediatric research. 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. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Type 4 does not involve an increased risk of opportunistic. Mutation of the cd40l gene in xlinked hyperigm syndrome. Diagnosis of hyper igm syndrome is suspected based on clinical criteria, including recurrent sinopulmonary infections, chronic diarrhea, and lymphoid hyperplasia. Without treatment, these disorders can become lifethreatening during childhood or adolescence. Hyper igm syndrome is a very rare, oneinamillion, and potentially lifethreatening genetic mutation that severely compromises the immune system. Hyper igm syndrome is characterized by normal or high levels of immunoglobulin m igm and decreased levels or absence of other immunoglobulins.
The invitae hyper igm syndrome panel analyzes up to 6 genes which are associated with hyper igm syndromes. Original article type two hyperigm syndrome caused by mutation. It is caused by the lack of heavy chain classswitching from igm to other isotypes. Hyperigm syndrome is a primary immunodeficiency syndrome, characterized by low serum igg, iga, ige. B essential modulator, while autosomal recessive forms of hyper igm are caused by. For a discussion of genetic heterogeneity of immunodeficiency with hyperigm. We diagnosed a 5monthold male infant presenting with cyanosis and interstitial pneumonia with pcp. Hyper igm syndrome type 2 is estimated to affect fewer than 1 in 1,000,000 people in the general population. Hyper igm syndrome an overview sciencedirect topics. Patients with hyperigm syndrome are also uniquely susceptible to pneumocystis pneumonia. We report a male infant diagnosed at the age of 10 months with hyper igm syndrome higm in context of severe infections caused by streptococcus pneumoniae, staphylococcus aureus and candida albicans.
Download pdf immunodeficiency with hyper igm him is a rare primary or secondary disorder characterized by very low serum igg and iga but either a normal or, more frequently, markedly elevated. Haematopoietic stem cell transplant for hyperigm syndrome. Hyper igd syndrome is the less severe form of a metabolic disorder known as mevalonate kinase deficiency. Pdf hematopoietic stem cell transplant for hyperigm. Based on these findings, the immunologist decides to pursue a further workup and obtains immunoglobulin levels. A number of different genetic defects can cause the hyper igm syndrome. Hyper igm syndrome is a type of primary immunodeficiency syndrome.
Children with hyper igm syndrome have frequent sinus and lung infections. Hyper igm syndrome is a very rare disease that affects only 1 in 1,000,000 individuals. Hyper igm syndrome 4 symptoms, diagnosis, treatments and. 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. Due to the progress in understanding of this condition, achieved in the recent.
Hyperimmunoglobulinemia e syndrome hies, of which the autosomal dominant form is called jobs syndrome or buckley syndrome, is a heterogeneous group of immune disorders. It causes immunodeficiency and susceptibility to infections. Hyperigd syndrome genetic and rare diseases information. 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. Both xlinked and autosomal recessive forms of disease have been described.
The hyper immunoglobulin m higm syndrome is a heterogeneous group of genetic disorders characterized by recurrent infections, decreased serum levels of immunoglobulin g igg and iga, and normalincreased serum levels of igm. 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. Our mission is to improve the treatment, quality of life and the long term outlook for children and adults living with hyper igm through research, support, education, and advocacy to. During the workup flow cytometry demonstrates a decrease in normal cd40l cells. Immunodeficiency with hyper igm type 1 genetic and rare. Pdf hyperigm syndrome a case report and a clinical perspective. Seventy percent of the most common form xhim is passed on from the childs mother. Hyper igm syndrome presenting as chronic suppurative lung disease. Hyper igm syndromes in children cancer therapy advisor. Patients with this syndrome exhibit defects in humoral immunity compatible with the role of cd154 in regulation of b cell function. Prolonged oral andor intravenous antibiotics decided on the basis of. 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. Xlinked forms of hyper igm are caused by defects in the cd40 ligand gene or nf.
Immunodeficiency with hyper igm type 3 genetic and rare. Hyper immunoglobulin m syndrome type 3 him3 is a recessively inherited immune disorder characterized by lack of igg, iga, and ige in the presence of excess igm, leading to increased susceptibility to bacterial infections. Syndrome of serum igm in patients with hyperigm defective self. These children have the same recurrent pyogenic infections as are seen in boys with xlinked agammaglobulinemia. Hyper igm syndrome is caused by genetic mutations of genes involved in immune response and affects a very small part of population. Hyper igm higm syndrome is a primary immunodeficiency disease pidd that affects a childs immune system. Hyperigm syndrome type 3 characterized by mutations of the cd40 gene. Hematopoietic stem cell transplantation hsct the only curative treatment currently available, ideally performed. Herein, we describe three turkish siblings with higm syndrome. Treatment including daily physiotherapy with nebulized saline was started. The initial symptoms of hyper igm syndrome usually develop in. Immunodeficiency with hyperigm syndrome him3 is a rare. The relevance of cd154 in humans was established with the discovery that a congenital immunodeficiency called xlinked hyper igm syndrome xhim is caused by the lack of functional cd154.
Primary immunodeficiency occurs when part of a persons immune system is missing or does not work correctly. Around 70 percent of higm cases are defects on the x chromosome and only affect boys. In higm3, cellular immunity is also affected, resulting in additional susceptibility to opportunistic pathogens. The united states immunodeficiency network usidnet patient registry was used to characterize the presentation, genetics, phenotypes, and treatment of patients with hyper igm syndrome higm.
Xlinked hyper igm syndrome, b test id test order name order loinc value xhim xlinked hyper igm syndrome, b in process result id test result name result loinc value 82964 cd40 ligand expression in process 29040 cd40muig function in process 23901. Hyper immunoglobulin m syndrome type 2 higm2 is a recessively inherited immune disorder characterized by lack of igg, iga, and ige in the presence of excess igm, leading to increased susceptibility to bacterial infections. Hematopoietic stem cell transplant for hyper igm syndrome due to cd40l defects. 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. Syndrome d hyper igm pdf download c16eaae032 malazan book of the fallen pdf downloadgospodar prstenova knjiga na srpskom pdf downloado pequeno principe download livro pdfthe plantagenets audio book downloaddownload standar kompetensi dokter indonesia 2012 pdfciclo pentosas fosfato pdf downloaddavid sibbet visual leaders pdf downloadkiran digest. Another form of hyper igm syndrome results from defects in an xlinked gene encoding the nfkb essential modulator nemo causing ectodermal dysplasia with an immunodeficiency that resembles hyper. Case of recurrent respiratory infections investigation, diagnosis and treatment of hyper igm syndrome and study of the immunology of the immunodeficiency. Xlinked hyper igm syndrome genetics home reference nih. Hyperigm syndrome merck manuals professional edition. Patients with hyperigm syndrome are susceptible to a variety of infections as demonstrated in this medical case study.
Hyper igm syndrome due to cd40 deficiency higm3 is a rare disease with only a few reported cases of haematopoietic stem cell transplantation hsct. The hyper igm syndromes higms are immunodeficiencies that have taught us much about the details of humoral immunity. Stem cell transplantation is an available therapeutic option for defects that result. Hyperigm syndrome is usually xlinked, although there is a form that affects girls. Herein, the epidemiology, pathogenesis, clinical manifestations, diagnosis, management, prognosis and treatment in patients with higm syndrome have been.
The hyper igm syndrome higm is one of the rarest primary immunodeficiencies. Pdf xlinked hyperigm syndrome xhim is a rare primary immunodeficiency. The bodies of people with primary immunodeficiency cant get rid of germs or protect themselves from new germs as well as they should. In this issue of blood, lanzi et al characterize a rare subset of higm patients and demonstrate that these disorders may also teach us about endoplasmic reticulum er storage diseases. Hyperigm syndrome type 4 which is a defect in class switch recombination downstream of the aicda gene that does not impair somatic hypermutation. Pdf liver disease in children with hyper igm syndrome. People with this disorder have abnormal levels of proteins called antibodies or immunoglobulins. The most common form of hyper igm is xlinked hyper igm, which primarily affects boys, except in rare cases. 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. The usidnet registry was queried for higm patient data collected from october 1992 to july 2015.
As a result, people are more susceptible to bacterial infections. An 8 year old boy with recurrent respiratory infections. See also overview of immunodeficiency disorders and approach to the. Three patients with xlinked hyper igm syndrome xhim, who were all asymptomatic until they developed b19induced chronic anemia at the ages of 8, 14, and 17 years, respectively, were found to have mutations of the cd40l gene, including a missense mutation t254m, a nonsense mutation resulting in a new initiation codon and loss of the.
Analysis of these genes may confirm a diagnosis of hyper igm syndrome in individuals with recurrent respiratory or opportunistic infections and normal to increased levels of immunoglobulin m igm, and low igg and iga. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. Xlinked hyper igm syndrome is a condition that affects the immune system and occurs almost exclusively in males. Treatment with regular infusions of ivig 400600 mgkgmo is effective in reducing infections but does not affect lymphoid hyperplasia. The other forms of hyper igm syndrome have only been described in the medical literature in a very small number of people.
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