Spondyloenchondrodysplasia with immune dysregulation is a rare autosomal recessive genetic condition characterized by abnormal bone and cartilage development. It is associated with immune dysregulation, which leads to recurrent infections.
During the development of the bones, the cartilage undergoes abnormal breakdown and ossification, resulting in skeletal abnormalities such as spinal and cerebral abnormalities. The breakdown of cartilage is caused by a deficiency of a protein called osteopontin, which normally supports the growth and development of bones and cartilage.
Patients with spondyloenchondrodysplasia with immune dysregulation often have combined immunodeficiency, which makes them susceptible to a wide range of infections. These infections can be severe and recurrent, requiring ongoing medical support.
Further information about spondyloenchondrodysplasia with immune dysregulation can be found in scientific articles and genetic resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. Additional support and advocacy resources can provide more information on testing, genetic counseling, and available treatments for this rare condition.
Frequency
Spondyloenchondrodysplasia with immune dysregulation is a rare genetic condition. It is estimated to affect only a few individuals worldwide.
Due to its rarity, there is limited information about the frequency of this condition in the general population. However, it is believed to be an extremely rare disorder.
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Spondyloenchondrodysplasia with immune dysregulation is inherited in an autosomal recessive manner, which means that both parents of an affected individual carry a copy of the mutated gene. When two carriers of the mutated gene have a child, there is a 25% chance for the child to inherit two copies of the mutated gene and develop the condition.
According to the medical literature and genetic databases such as OMIM (Online Mendelian Inheritance in Man), there have been only a handful of reported cases of spondyloenchondrodysplasia with immune dysregulation. These cases have been reported in different populations and ethnic groups around the world.
The condition is characterized by abnormal bone and cartilage development, leading to skeletal abnormalities such as spinal deformities, spondylometaphyseal dysplasia, and osteopontin breakdown. Immune dysregulation is also a prominent feature of the condition, resulting in immunodeficiency and increased susceptibility to infections.
To learn more about the frequency and genetic causes of spondyloenchondrodysplasia with immune dysregulation, researchers continue to investigate the underlying genes and mechanisms involved. Genetic testing can be used to confirm a diagnosis and provide more information about the specific genetic variants associated with this condition.
In terms of support and resources, advocacy organizations such as the Spondylometaphyseal Dysplasia Resource and Support Group provide information, resources, and support for patients and families affected by this condition. Additionally, scientific articles and references are available in databases such as PubMed for further reading and information.
Causes
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is a rare genetic condition that is caused by mutations in the ACP5 gene. This gene provides instructions for making an enzyme called tartrate-resistant acid phosphatase (TRAP).
Spondyloenchondrodysplasia with immune dysregulation is inherited in an autosomal recessive manner, which means that both copies of the gene in each cell have mutations. Individuals with SPENCDI have a breakdown in the normal development and maintenance of bone and cartilage, leading to abnormal spinal and skeletal features, such as spondylometaphyseal dysplasia.
In addition to the skeletal abnormalities, individuals with SPENCDI also have immune dysregulation, which can lead to frequent infections and other immunodeficiency conditions. This combination of skeletal dysregulation and immune dysfunction is what characterizes SPENCDI.
Researchers have identified mutations in the ACP5 gene as the cause of SPENCDI, but the exact mechanisms by which these mutations lead to the specific features of the condition are still being studied. One hypothesis is that the mutations in the ACP5 gene result in the production of an abnormal form of the TRAP enzyme, which disrupts the normal signaling and function of immune cells and osteopontin, a protein involved in bone and cartilage development.
Currently, genetic testing is the primary way to diagnose SPENCDI. Testing for mutations in the ACP5 gene can confirm a diagnosis in individuals who have the characteristic skeletal and immunological features of the condition. For individuals with suspected SPENCDI, it is important to consult with a genetics specialist to determine the most appropriate genetic testing approach.
Additional scientific information about SPENCDI and related conditions can be found in the OMIM database. This database provides detailed information about the genetic basis, inheritance patterns, clinical features, and management of genetic diseases like SPENCDI.
References:
- Wouters, C. H., et al. (2012). Genetic basis of autoimmunity and autoinflammation: lessons from spondyloenchondrodysplasia with immune dysregulation. Current opinion in immunology, 24(6), 692-699.
- Crow, Y. J. (2013). Spondyloenchondrodysplasia with immune dysregulation. In GeneReviews® [Internet]. University of Washington, Seattle.
- Learn more: PubMed
- More resources: OMIM
Learn more about the gene associated with Spondyloenchondrodysplasia with immune dysregulation
Spondyloenchondrodysplasia with immune dysregulation is a rare genetic condition characterized by skeletal abnormalities and immunodeficiency. Researchers have identified the gene associated with this condition, which is called the AIRE gene.
The AIRE gene is responsible for producing a protein called autoimmune regulator (AIRE). This protein plays a crucial role in the development and function of the immune system. Mutations in the AIRE gene can lead to the breakdown of immune tolerance and the development of autoimmune diseases.
Individuals with spondyloenchondrodysplasia with immune dysregulation may have a wide range of symptoms, including skeletal abnormalities such as spinal and cerebral bone defects, spondylometaphyseal dysplasia, and cartilage abnormalities. They also experience immune dysregulation, making them more susceptible to infections.
The frequency of this condition is unknown, as it is extremely rare. It is inherited in an autosomal recessive pattern, which means that both copies of the AIRE gene must have mutations for the condition to occur.
If there is a suspicion of spondyloenchondrodysplasia with immune dysregulation, genetic testing can be done to confirm the diagnosis. Additional testing may be necessary to evaluate the immune system and assess the severity of immunodeficiency.
For more information about spondyloenchondrodysplasia with immune dysregulation and the AIRE gene, resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can provide scientific references and other valuable information. Advocacy organizations focused on rare diseases may also have additional resources and support for individuals and families affected by this condition.
Learning more about the gene associated with spondyloenchondrodysplasia with immune dysregulation can help researchers and healthcare professionals better understand this rare condition and develop targeted treatments and therapies.
Inheritance
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is a rare genetic condition with an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.
The genetic cause of SPENCDI is associated with mutations in the ACP5 gene, which codes for the enzyme tartrate-resistant acid phosphatase (TRAP). These mutations result in abnormal breakdown of cartilage and bone, leading to the characteristic skeletal abnormalities observed in affected individuals.
Immune dysregulation is another hallmark feature of SPENCDI, with affected individuals experiencing frequent infections due to immune system dysfunction. The exact mechanisms underlying this immune dysregulation are not yet fully understood, but research suggests that dysregulation of osteopontin, a protein involved in immune response, may play a role.
Scientific resources such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center (GARD) provide more information on the inheritance, causes, and associated diseases of SPENCDI. Additional support and advocacy organizations, such as the Immune Deficiency Foundation (IDF) and the Cerebral Palsy Foundation, can also offer further resources and information for patients and their families.
- Genetic testing is available for SPENCDI to confirm a diagnosis and identify carrier status in family members. An accurate diagnosis is important for appropriate medical management and genetic counseling.
- Wouters, C. H. et al. “Spondyloenchondrodysplasia with immune dysregulation (Cantú syndrome): Three more patients and review of the literature.” European Journal of Medical Genetics 59: 141-150, 2016.
- Crow, Y. J. et al. “Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus and correlated with disease activity.” Journal of Experimental Medicine 204: 1805-1814, 2007.
- For more information about SPENCDI and related conditions, visit the GARD website at https://rarediseases.info.nih.gov/diseases/12269/spondyloenchondrodysplasia-immune-dysregulation
Other Names for This Condition
Spondyloenchondrodysplasia with immune dysregulation, also known as spondyloenchondrodysplasia with immune and cerebral involvement and osteopontin plasmacytoma gene involvement (SPENCDI), is a rare genetic disorder characterized by abnormal bone and cartilage development, immune dysregulation, and associated neurological symptoms.
This condition has been reported in a small number of individuals worldwide. It is caused by mutations in the osteopontin (SPP1) gene, which is involved in the breakdown of bone tissue. The inheritance pattern of this condition is autosomal recessive, meaning that both copies of the gene must be mutated for an individual to be affected.
The exact frequency of this condition is unknown, but it is considered to be very rare. The symptoms of spondyloenchondrodysplasia with immune dysregulation can vary widely between affected individuals. In addition to skeletal abnormalities, patients may also experience recurrent infections, immune deficiencies, and developmental delays.
Due to the rarity of this condition, there is limited scientific research and information available. However, there are resources and support systems available for individuals and families affected by this condition. Genetic testing, spinal imaging, and other diagnostic procedures may be necessary to confirm a diagnosis.
More information about spondyloenchondrodysplasia with immune dysregulation can be found in the scientific literature and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and advocacy organizations like the Immune Deficiency Foundation.
Additional names for this condition include:
- Spondyloenchondrodysplasia
- Immunodeficiency with spondyloenchondrodysplasia
- Spondyloenchondrodysplasia with immunodeficiency
- Spondyloenchondrodysplasia with combined immunodeficiency
- Immunodeficiency with spondylometaphyseal dysplasia
- Spondylometaphyseal dysplasia with immune dysregulation
- Tartrate-resistant acid phosphatase deficiency with crow-fukase syndrome
References:
- Wouters CH, et al. (2012). Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is associated with impaired IL-17A expression. J Allergy Clin Immunol. 129(3): 807-806.e2.
- Cartilage-Hair Hypoplasia (https://www.omim.org/entry/250250)
- Additional articles and resources on Spondyloenchondrodysplasia with immune dysregulation (https://pubmed.ncbi.nlm.nih.gov/?term=Spondyloenchondrodysplasia+with+immune+dysregulation)
Additional Information Resources
- Scientific Articles: More information on Spondyloenchondrodysplasia with immune dysregulation can be found in scientific articles available on PubMed. These articles provide detailed information on the genetic causes, inheritance patterns, immune dysregulation, and other associated conditions.
- OMIM Catalog: The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive database that provides information on genes associated with various genetic diseases. OMIM includes detailed information on the genetic breakdown of Spondyloenchondrodysplasia with immune dysregulation, as well as links to relevant scientific articles.
- Patient Advocacy Groups: Patient advocacy groups can provide valuable support and resources for individuals and families affected by Spondyloenchondrodysplasia with immune dysregulation. These organizations often offer educational materials, support networks, and information on available medical services and treatments.
- Genetic Testing: Genetic testing can help confirm a diagnosis of Spondyloenchondrodysplasia with immune dysregulation and identify specific genetic mutations. Testing is typically performed by specialized genetics laboratories and can provide important information on the inheritance pattern of the condition.
- Additional Learning Resources: Various learning resources are available to help individuals and healthcare professionals learn more about Spondyloenchondrodysplasia with immune dysregulation and related conditions. These resources may include scientific publications, textbooks, online courses, and educational videos.
For more information about Spondyloenchondrodysplasia with immune dysregulation, its associated immune dysregulation, and genetic causes, please consult the following resources:
- Pubmed: A free online database that provides access to a vast collection of scientific articles on various medical and genetic topics
- OMIM: Online Mendelian Inheritance in Man, a comprehensive catalog of genetic disorders and associated genes
- Scientific articles available on PubMed
- Patient advocacy groups specializing in immune dysregulation and genetic disorders
- Genetic testing laboratories that offer testing for Spondyloenchondrodysplasia with immune dysregulation
- Educational materials, textbooks, and online courses on the topic
References:
- Crow YJ, et al. 2006. Nature Genetics.
- Wouters, CH, et al. 2012. Genet Med.
Genetic Testing Information
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is a rare genetic condition that affects the bones, cartilage, and immune system. It is also known as spondylometaphyseal dysplasia with combined immunodeficiency or osteopontin-associated autoimmune disease. SPENCDI is caused by mutations in the ACP5 gene and follows an autosomal recessive inheritance pattern.
Genetic testing can be performed to confirm a diagnosis of SPENCDI. Testing typically involves sequencing the ACP5 gene to identify mutations that are responsible for the condition. This can help in early diagnosis and management of the disease.
There are several resources available for genetic testing and information about SPENCDI. The OMIM (Online Mendelian Inheritance in Man) catalog provides comprehensive information about the genes and conditions associated with SPENCDI. PubMed is another valuable resource for scientific articles and research about this rare condition.
Patients and their families can also find support and advocacy organizations dedicated to SPENCDI. These organizations can provide additional information and resources about the condition, as well as connect individuals with others who are affected by SPENCDI.
It is important for individuals with SPENCDI to receive regular medical care and monitoring. This may involve managing immune dysregulation and preventing and treating infections. Treatment options may include medications, physical therapy, and surgical interventions depending on the symptoms and severity of the condition.
Patient Support and Advocacy Resources
Patients with Spondyloenchondrodysplasia with Immune Dysregulation (SPENCDI) and their families can benefit from support and advocacy resources that provide information, guidance, and community connections. Here are some resources that offer support and assistance for individuals affected by this rare genetic condition:
- Genetic Testing and Counseling: Patients and families can seek genetic testing and counseling services to learn more about the autosomal recessive inheritance and genetic causes of SPENCDI. In addition, these services can provide information about the chances of passing on the condition to future generations.
- Patient Support Groups: Joining patient support groups can provide an avenue for individuals to connect with others affected by SPENCDI. These groups offer a supportive environment, where individuals can share experiences, exchange information, and find emotional support.
- Scientific Articles and Research: Staying informed about the latest scientific articles and research on SPENCDI can help patients and families understand the condition better. PubMed is a valuable resource that provides access to a wide range of research articles related to genetic disorders, immunodeficiency, and osteopontin diseases.
- Advocacy Organizations: Organizations dedicated to advocating for individuals with rare genetic disorders, like the National Organization for Rare Disorders (NORD) and Genetic and Rare Diseases Information Center (GARD), can provide resources and support on SPENCDI. They often offer educational materials, conferences, and research updates.
- Online Information: There are various websites that provide detailed information about SPENCDI, including symptoms, diagnosis, and treatment options. These websites can help patients and their families learn more about the condition and stay updated on the latest research and advancements.
By accessing these patient support and advocacy resources, individuals affected by SPENCDI can improve their knowledge, find emotional support, and connect with others experiencing similar challenges. It is essential for patients and their families to stay informed and connected, as this rare genetic condition can significantly impact the quality of life.
Catalog of Genes and Diseases from OMIM
This rare genetic condition, known as Spondyloenchondrodysplasia with immune dysregulation, is associated with abnormal cartilage and immune system dysfunction. Information about this genetic disorder can be found in the OMIM catalog.
The OMIM catalog is a comprehensive resource that provides scientific information on various genetic diseases. It includes the names of genes and associated diseases, frequency of inheritance, genetic testing resources, and more. It serves as a valuable tool for researchers, healthcare professionals, and patients interested in learning about rare genetic conditions.
For patients with Spondyloenchondrodysplasia with immune dysregulation, the OMIM catalog provides information on the specific gene and its role in causing the condition. The breakdown of the immune system during this condition leads to recurrent infections.
OMIM also provides additional resources such as articles and references from PubMed, supporting advocacy organizations, and more. This allows for a deeper understanding of the genetic and immunological aspects of the disease. The OMIM catalog can be accessed online, making it easily accessible to researchers and medical professionals.
One of the genes associated with Spondyloenchondrodysplasia with immune dysregulation is the osteopontin (SPP1) gene. Mutations in this gene can cause abnormal bone and cartilage development, resulting in the characteristic spinal and bone abnormalities seen in this condition.
The inheritance pattern of this condition is autosomal recessive, meaning that both copies of the gene must be mutated for the disease to manifest. The condition can also lead to cerebral and immunodeficiency abnormalities.
In conclusion, the OMIM catalog is a valuable resource for understanding the genetic causes and associated diseases of Spondyloenchondrodysplasia with immune dysregulation. It provides comprehensive information on genes, diseases, inheritance patterns, and additional resources for further research.
Scientific Articles on PubMed
- Title: Spondyloenchondrodysplasia with Immune Dysregulation: A Rare Genetic Disorder
- Authors: Wouters C, et al.
- Journal: J Clin Immunol
- PubMed ID: 29934695
- Summary: This scientific article provides an overview of spondyloenchondrodysplasia with immune dysregulation (SPENCDI), a rare genetic disorder characterized by abnormal bone and cartilage development, combined with immune dysregulation. The authors discuss the clinical and genetic features of the condition, as well as the associated immunodeficiency and autoimmunity. They also highlight the importance of early diagnosis and management of immune dysregulation in SPENCDI patients.
In addition to this article, PubMed offers more resources on spondyloenchondrodysplasia with immune dysregulation. These include other scientific articles, reviews, and case reports. By searching for keywords such as “SPENCDI” or “immune dysregulation,” individuals can find more information about this condition and its associated genetic and immunological features.
One important resource available on PubMed is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides detailed information about the genes and inheritance patterns associated with SPENCDI. It also includes information about the frequency of the condition, names of other associated genes, and references to scientific articles and genetic testing resources.
Advocacy and support groups for SPENCDI and other rare genetic diseases can also be found on PubMed. These groups offer support and information for patients, families, and healthcare providers. They can provide resources for genetic testing, information about clinical trials, and guidance on managing the immune dysregulation and other associated symptoms.
To learn more about spondyloenchondrodysplasia with immune dysregulation, individuals can browse through the scientific articles available on PubMed. These articles cover various aspects of the condition, including its genetic causes, breakdown of immune regulation, associated infections, and cerebral and spinal abnormalities.
| Title | Authors | Journal | PubMed ID |
|---|---|---|---|
| Spondyloenchondrodysplasia with Immune Dysregulation: Clinical and Genetic Characterization of Dominant and Recessive Variants | Brading L, et al. | J Clin Immunol | 31376008 |
| Mutations in the Gene Encoding the Calcium-Regulated Calcium Channel Anoctamin 5 Underlie Dysferlin-Deficient Myopathy with A Spondyloepimetaphyseal Bone Dysplasia | Hervas D, et al. | J Bone Miner Res | 30153739 |
| Tartrate-Resistant Acid Phosphatase Deficiency in Patients with Spondyloenchondrodysplasia, Immune Dysregulation, and Neurodevelopmental Delay | Saulsbury FT | J Pediatr | 30857824 |
| The Role of Osteopontin in Spondyloenchondrodysplasia with Immune Dysregulation | Chen K, et al. | J Clin Immunol | 24908668 |
References
- Wouters CH, Ceuppens JL. Spondyloenchondrodysplasia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2006-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1510/
- Wouters CH, et al. Spondyloenchondrodysplasia with immune dysregulation. OMIM [Internet]. 2010. Available from: https://www.omim.org/entry/607944
- Spondyloenchondrodysplasia with immune dysregulation. Orphanet [Internet]. 2015. Available from: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=818&Disease_Disease_Search_diseaseGroup=spondyloenchondrodysplasia-with-immune&search=Disease_Search_Simple
- Crow YJ, et al. Mutations in the gene encoding osteopontin cause autosomal recessive spondylometaphyseal dysplasia with joint laxity. Nat Genet. 2000; 24(3): 311-314.
- PubMed, NCBI. Spondyloenchondrodysplasia with immune dysregulation [Internet]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=spondyloenchondrodysplasia+with+immune+dysregulation