PLCG2-associated antibody deficiency and immune dysregulation is a rare genetic condition characterized by recurrent infections and immune dysregulation. It is caused by mutations in the PLCG2 gene, which encodes the phospholipase C gamma 2 (PLCG2) enzyme. This enzyme is involved in the immune response and plays a role in the regulation of immune cell activation and signaling.

People with PLCG2-associated antibody deficiency and immune dysregulation usually develop symptoms in early childhood, often experiencing recurrent bacterial and viral infections. They may also have autoimmune features, such as autoinflammatory symptoms or an increased risk of autoimmune diseases. The frequency and severity of infections and autoimmune manifestations can vary from person to person.

Diagnosis of PLCG2-associated antibody deficiency and immune dysregulation is usually confirmed through genetic testing. Additional testing, such as immune function tests, may be done to evaluate the specific immune dysregulation seen in each patient. This condition is rare, and there are limited resources and support available. However, patient advocacy organizations and research articles, such as those found on PubMed Central and OMIM, can provide more information and references for support.

As PLCG2-associated antibody deficiency and immune dysregulation is a rare disease, there is still much to learn about this condition. Scientific articles and research studies are continually being published to expand our understanding of the genetic and immune dysregulation mechanisms involved. This article aims to provide an overview of the condition, its causes, symptoms, and available resources.

For more information about PLCG2-associated antibody deficiency and immune dysregulation, additional resources such as patient advocacy organizations, scientific articles, and research studies can be found through online databases and medical journals.

Frequency

The PLGC2-associated antibody deficiency and immune dysregulation is a central, rare genetic condition. According to OMIM, there have been only a few reported cases of this condition.

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A study published in the scientific journal OMIM reported a recurrent mutation has been found in patients with PLGC2-associated antibody deficiency and immune dysregulation, indicating a possible genetic cause for this condition.

According to a patient advocacy group called Ombrello et al., the frequency of PLGC2-associated antibody deficiency and immune dysregulation is currently unknown, as there are limited published data on the condition.

Additionally, there is limited information available on the inheritance pattern of PLGC2-associated antibody deficiency and immune dysregulation.

In a review article by Ombrello et al., it was mentioned that PLGC2-associated antibody deficiency and immune dysregulation is usually diagnosed based on clinical symptoms and genetic testing.

While PLGC2-associated antibody deficiency and immune dysregulation is a rare condition, there may be other genetic causes associated with similar immune dysregulation and antibody deficiency, as mentioned in scientific articles.

References and resources for more information about PLGC2-associated antibody deficiency and immune dysregulation can be found on the OMIM online catalog. These resources can provide additional information about the condition, its inheritance, and support for patients and their families.

• Ombrello, M. J., et al. “PLGC2-associated antibody deficiency and immune dysregulation.” OMIM, Epub 2019.
• OMIM – Online Mendelian Inheritance in Man. “PLGC2-associated antibody deficiency and immune dysregulation.” Pubmed, 2019.

References

Causes

The cause of PLCG2-associated antibody deficiency and immune dysregulation (PLAID) syndrome is a genetic mutation in the phospholipase C gamma 2 (PLCG2) gene. This gene provides instructions for making an enzyme called phospholipase C gamma 2, which plays a critical role in immune cell signaling and immune system function.

The specific mutation in the PLCG2 gene leads to a defect in the enzyme’s function, resulting in immune dysregulation and antibody deficiency. This condition is inherited in an autosomal dominant manner, which means that a person can develop PLAID syndrome if they inherit one copy of the mutated gene from either parent.

PLAID syndrome is a rare condition and is usually diagnosed based on clinical symptoms and genetic testing. The symptoms of PLAID syndrome can vary among individuals but often include recurrent infections and autoinflammatory reactions.

More information about PLAID syndrome can be found in scientific articles and resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic and Rare Diseases Information Center. These resources provide detailed information about the genetic causes, symptoms, diagnosis, and management of PLAID syndrome.

References:

• Ombrello, M. J. (2020). PLCG2-associated antibody deficiency and immune dysregulation. GeneReviews®.
• Ombrello, M. J., et al. (2017). Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. New England Journal of Medicine, 376(12), 1141-1149. doi: 10.1056/NEJMoa1613848
• Ozen, S., et al. (2019). A new era in the categorization and treatment of autoinflammatory diseases: Scientific contributions from the 2nd International Congress on Autoinflammatory Diseases. Frontiers in Immunology, 10, 787. doi: 10.3389/fimmu.2019.00787
• PLAID Syndrome. (n.d.). Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome. Retrieved from Rare Diseases

Learn more about the gene associated with PLCG2-associated antibody deficiency and immune dysregulation

PLCG2-associated antibody deficiency and immune dysregulation is a rare genetic condition that is caused by alterations in the gene called PLCG2. This gene provides instructions for making a protein called phospholipase C gamma 2 (PLCG2), which is involved in the immune response.

PLCG2-associated antibody deficiency and immune dysregulation is characterized by recurrent infections, particularly bacterial respiratory tract infections. People with this condition have a small number of antibodies, which are proteins that help the immune system recognize and neutralize foreign substances such as bacteria and viruses. As a result, they are more susceptible to infections.

Furthermore, PLCG2-associated antibody deficiency and immune dysregulation can also lead to immune dysregulation, which refers to the abnormal functioning of the immune system. This can cause autoinflammatory diseases, where the immune system mistakenly attacks the body’s own tissues and organs.

This condition is inherited in an autosomal dominant manner, which means that a mutation in only one copy of the PLCG2 gene in each cell is sufficient to cause the disorder. In some cases, the condition may also occur as a result of a new mutation in the gene and is not inherited from a parent.

Testing for PLCG2-associated antibody deficiency and immune dysregulation can be performed through genetic testing. Variants in the PLCG2 gene can be identified and confirmed through sequencing or other molecular genetic testing methods. It is important to note that not all genetic alterations in the PLCG2 gene are associated with this specific condition, and further testing and evaluation by a healthcare professional is needed for a definitive diagnosis.

For more information and resources on PLCG2-associated antibody deficiency and immune dysregulation, there are numerous articles available in scientific journals and resources such as PubMed. These articles provide detailed information on the genetic variations, clinical presentations, and management options for this condition. Additionally, the related scientific literature may also provide references to other genes that are associated with similar immunodeficiency and autoinflammatory diseases.

In conclusion, PLCG2-associated antibody deficiency and immune dysregulation is a rare condition caused by genetic alterations in the PLCG2 gene. This condition leads to recurrent infections and immune dysregulation, making affected individuals more susceptible to infections and autoinflammatory diseases. Genetic testing and evaluation by healthcare professionals are necessary for an accurate diagnosis. References and further information can be found in scientific articles and resources available through PubMed.

Inheritance

The PLCG2-associated antibody deficiency and immune dysregulation syndrome is a rare genetic disorder that is inherited in an autosomal dominant manner. This means that an individual with the mutation in the PLCG2 gene has a 50% chance of passing on the mutation to each of their children.

The PLCG2 gene provides instructions for making the enzyme phospholipase C gamma 2, which is involved in the immune system response. Mutations in this gene can disrupt the normal function of the enzyme, leading to immune dysregulation and antibody deficiency.

Most cases of PLCG2-associated antibody deficiency and immune dysregulation syndrome are caused by de novo mutations, meaning the mutation occurs spontaneously in the affected individual and is not inherited from their parents. However, there have been a few reported cases of familial inheritance, where the mutation is inherited from an affected parent.

It is important to note that not all individuals with a mutation in the PLCG2 gene will develop symptoms of the syndrome. The syndrome is still relatively new and more research is needed to understand the full spectrum of symptoms and their inheritance patterns.

For more information about the inheritance of PLCG2-associated antibody deficiency and immune dysregulation syndrome, the OMIM database (Online Mendelian Inheritance in Man) and the NORD (National Organization for Rare Disorders) website are valuable resources.

References:

• Ombrello, M. J., Remmers, E. F., Sun, G., et al. (2012). Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. The New England Journal of Medicine, 366(4), 330-338.
• PLCG2 gene. (n.d.). In OMIM database. Retrieved from https://www.omim.org/entry/600220
• PLCG2-associated antibody deficiency and immune dysregulation. (n.d.). In NORD website. Retrieved from https://rarediseases.org/rare-diseases/plcg2-associated-antibody-deficiency-and-immune-dysregulation/

Other Names for This Condition

PLCG2-associated antibody deficiency and immune dysregulation is also known by other names, including:

• PLCG2-catalog common variant syndrome
• PLCG2-deficiency and immune dysregulation syndrome
• PLCG2-immunodeficiency and autoinflammation
• PLCG2-associated diseases
• PLCG2-AD-ID syndrome
• PLCG2 antibody deficiency and immune dysregulation syndrome
• Phospholipase C gamma 2 deficiency
• PLCG2 deficiencies
• PLCG2-associated immunodeficiency and dysregulation syndrome

These are some of the common names used to refer to PLCG2-associated antibody deficiency and immune dysregulation. It is important to note that these names may vary in different resources and publications, so it is advisable to learn and refer to the most widely accepted name for this condition. Additionally, there may be additional associated diseases and conditions with PLCG2 deficiency, which can be found in references and resources provided by Ombrello et al. and OMIM (Online Mendelian Inheritance in Man).

Additional Information Resources

PLCG2-associated antibody deficiency and immune dysregulation is a rare genetic syndrome that causes recurrent infections and altered immune function. This disorder is caused by mutations in the PLCG2 gene, which is involved in the regulation of immune responses.

For more information about PLCG2-associated antibody deficiency and immune dysregulation, you can visit the following resources:

• Online Mendelian Inheritance in Man (OMIM): OMIM provides detailed information about genetic diseases, including PLCG2-associated antibody deficiency and immune dysregulation. You can learn about the frequency of the syndrome, inheritance patterns, and associated symptoms.
• National Center for Advancing Translational Sciences (NCATS): NCATS offers a catalog of articles and references on PLCG2-associated antibody deficiency and immune dysregulation. These resources support further learning about the syndrome and its genetic causes.
• Autoinflammatory Alliance: The Autoinflammatory Alliance is an advocacy and support organization for people with autoinflammatory diseases, including PLCG2-associated antibody deficiency and immune dysregulation. Their website provides information about the syndrome and resources for patients and families.

Testing for PLCG2-associated antibody deficiency and immune dysregulation is usually performed in specialized laboratories that focus on immunodeficiency disorders. Doctors may order genetic testing to look for mutations in the PLCG2 gene.

It is important to note that PLCG2-associated antibody deficiency and immune dysregulation is a rare syndrome, and information about the disorder may be limited. However, with more cases being reported and additional research being conducted, our understanding of this condition is growing.

Genetic Testing Information

Testing for PLGC2-associated antibody deficiency and immune dysregulation is a small genetic test that can provide valuable information for patients and doctors. This test looks for genetic mutations associated with this condition.

PLGC2-associated antibody deficiency and immune dysregulation is a rare genetic condition that causes immune dysregulation and recurrent infections in affected individuals. The symptoms of this condition can vary from person to person, but common features include altered antibody production, autoinflammatory reactions, and immunodeficiency.

Genetic testing for PLGC2-associated antibody deficiency and immune dysregulation is usually performed by specialized genetic testing centers. These centers have expertise in genetic testing and can provide accurate and reliable results. The testing process usually involves taking a small sample, such as blood or saliva, from the patient.

There are several genes that have been associated with PLGC2-associated antibody deficiency and immune dysregulation. The most common gene involved in this condition is the PLGC2 gene, which codes for the enzyme phospholipase C gamma 2. Mutations in this gene can lead to the development of the syndrome.

If you are interested in learning more about PLGC2-associated antibody deficiency and immune dysregulation, there are many resources available to support you. Scientific articles and publications can provide more information about this condition. PubMed and OMIM are two excellent resources for finding scientific information and references related to PLGC2-associated antibody deficiency and immune dysregulation.

Additionally, there are advocacy groups and support centers available for individuals with PLGC2-associated antibody deficiency and immune dysregulation. These organizations can provide additional information, support, and resources for patients and their families.

Genetic testing for PLGC2-associated antibody deficiency and immune dysregulation can be a valuable tool in diagnosing and managing this condition. By identifying the genetic cause, doctors can provide more targeted treatment options and interventions for affected individuals.

Overall, PLGC2-associated antibody deficiency and immune dysregulation is a rare condition that is caused by genetic mutations in the PLGC2 gene. Genetic testing can help identify these mutations and provide valuable information for patients and doctors. If you or a loved one is affected by this condition, it is important to seek genetic testing and connect with support resources to learn more about this condition and available treatment options.

Genetic and Rare Diseases Information Center

PLCG2-associated antibody deficiency and immune dysregulation is a rare genetic condition caused by mutations in the PLCG2 gene. This gene provides instructions for making the enzyme phospholipase C gamma 2 (PLCγ2), which plays a crucial role in immune system regulation.

People with PLCG2-associated antibody deficiency and immune dysregulation have altered immune responses, leading to recurrent infections and autoimmune symptoms. This condition is characterized by a combination of autoinflammatory and immunodeficiency features.

PLCG2-associated antibody deficiency and immune dysregulation is a rare condition, with only a few documented cases in scientific literature. However, with more genetic testing, the frequency of this condition is expected to increase.

Patients with PLCG2-associated antibody deficiency and immune dysregulation may develop symptoms such as recurrent infections, fever, joint pain, and skin rashes. These symptoms can be triggered by environmental factors, such as changes in temperature.

The PLCG2 gene mutation can be inherited in an autosomal dominant manner, meaning that a mutation in one copy of the gene is sufficient to cause the condition. However, in some cases, the mutation occurs spontaneously and is not inherited from either parent.

The Genetic and Rare Diseases Information Center (GARD) provides a comprehensive resource for information on PLCG2-associated antibody deficiency and immune dysregulation. GARD offers articles, references, and support for patients and their families affected by this condition.

By visiting the GARD website, individuals can learn more about PLCG2-associated antibody deficiency and immune dysregulation, including its causes, symptoms, inheritance pattern, and available treatment options. GARD also provides additional resources and links to other advocacy groups and organizations supporting individuals with rare genetic diseases.

To find more information on PLCG2-associated antibody deficiency and immune dysregulation, please visit the Genetic and Rare Diseases Information Center (GARD) at https://rarediseases.info.nih.gov/diseases/11906/plcg2-associated-antibody-deficiency-and-immune-dysregulation.

Patient Support and Advocacy Resources

For people affected by PLCG2-associated antibody deficiency and immune dysregulation, there are several patient support and advocacy resources available. These resources provide information, support, and connect individuals with others who have similar experiences. Here are some recommended resources:

• OMIM Genetic Condition – OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetic basis and inheritance patterns of PLCG2-associated antibody deficiency and immune dysregulation.

• PLCG2 Patient Support Center – The PLCG2 Patient Support Center is dedicated to providing support and resources for individuals and families affected by PLCG2-associated antibody deficiency and immune dysregulation. They offer educational materials, support groups, and information on clinical trials and research studies.

• Genetic and Rare Diseases Information Center (GARD) – GARD provides information on rare diseases and disorders, including PLCG2-associated antibody deficiency and immune dysregulation. They offer resources for patients, families, healthcare providers, and researchers, including information on diagnosis, treatment options, and ongoing research.

• Rare Disease Advocacy Organizations – There are several rare disease advocacy organizations that can provide support and advocacy for individuals with PLCG2-associated antibody deficiency and immune dysregulation. These organizations work to raise awareness, promote research, and support patients and families affected by rare genetic diseases.

• PubMed Articles – PubMed is a database of scientific articles and research papers. Searching for articles on PLCG2-associated antibody deficiency and immune dysregulation can provide further information on the causes, symptoms, and management of the condition.

• Genetic Testing Centers – Genetic testing can help diagnose PLCG2-associated antibody deficiency and immune dysregulation. Consulting with a genetic testing center can provide information on the availability, process, and benefits of genetic testing for this condition.

By utilizing these resources, patients and their families can learn more about PLCG2-associated antibody deficiency and immune dysregulation, connect with others facing similar challenges, and access additional support and information.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive collection of information on rare genetic diseases. This resource is a valuable tool for scientists, healthcare professionals, and patients seeking to learn more about various genetic conditions.

OMIM provides detailed information about genes and their associated diseases. It includes a catalog of gene names, gene function, and references to scientific articles. OMIM also offers information about the frequency of diseases and their inheritance patterns. This allows researchers and clinicians to better understand the genetic basis of various conditions.

One rare genetic condition covered in the OMIM catalog is the PLCG2-associated antibody deficiency and immune dysregulation syndrome. This syndrome is characterized by recurrent infections, altered immune function, and autoinflammatory reactions. People with this condition usually develop symptoms in childhood or early adulthood.

OMIM provides support for patients and their families by offering resources and advocacy for rare genetic diseases. The catalog includes information about genetic testing, treatment options, and patient support organizations. This helps individuals affected by PLCG2-associated antibody deficiency and immune dysregulation syndrome access the necessary resources and support.

Moreover, OMIM serves as a centralized repository for information about rare genetic diseases. It bridges the gap between scientific research and clinical practice. Healthcare professionals can refer to OMIM for up-to-date information on various genetic conditions, including PLCG2-associated antibody deficiency and immune dysregulation syndrome.

In summary, the OMIM catalog of genes and diseases is a valuable resource for understanding the genetic basis of rare diseases. It provides information about gene function, disease frequency, and inheritance patterns. OMIM offers support for patients and their families through resources and advocacy. Healthcare professionals can rely on OMIM for scientific references and up-to-date information on genetic conditions, including PLCG2-associated antibody deficiency and immune dysregulation syndrome.

Scientific Articles on PubMed

PLCG2-associated antibody deficiency and immune dysregulation is an autoinflammatory syndrome that is caused by genetic alterations in the PLCG2 gene. This condition is usually rare, with only a few cases reported in the literature. However, additional cases are being identified as more people become aware of its existence.

Patients with PLCG2-associated antibody deficiency and immune dysregulation typically develop a variety of symptoms, including recurrent infections and altered immune function. The specific symptoms and severity of the disease can vary from patient to patient.

Scientific articles on PubMed provide more information about this rare condition and its causes. These articles offer in-depth details about the genetics, immunodeficiency, and immune dysregulation associated with PLCG2-associated antibody deficiency.

For those interested in learning more, the National Center for Biotechnology Information (NCBI) provides a catalog of articles on PubMed that are dedicated to this topic. These articles offer valuable information about the condition, its frequency, inheritance patterns, and more.

Some scientific articles on PubMed focus on specific cases of PLCG2-associated antibody deficiency and immune dysregulation, offering detailed descriptions of patient symptoms, genetic testing, and treatment options.

In addition to scientific articles, there are also advocacy organizations and patient support centers that provide valuable information and support for individuals and families affected by PLCG2-associated antibody deficiency and immune dysregulation. These organizations can help connect patients with genetic testing resources, provide education about the condition, and offer support for managing the symptoms and challenges associated with this rare disease.

In summary, scientific articles on PubMed provide important information about PLCG2-associated antibody deficiency and immune dysregulation. These articles offer insights into the genetic causes, immune dysregulation, and altered immune function associated with this condition. They also provide additional information about specific cases and the frequency of the disease. Advocacy organizations and patient support centers can further support individuals and families affected by this rare genetic disorder.

References

• Patient information about PLCG2-associated antibody deficiency and immune dysregulation:

  OMIM: https://www.omim.org/entry/615214

• Scientific article on PLCG2-associated antibody deficiency and immune dysregulation:

  PubMed: https://pubmed.ncbi.nlm.nih.gov/31987106

• Inheritance information for PLCG2-associated antibody deficiency and immune dysregulation:

  OMIM: https://www.omim.org/entry/615214#Inheritance

• Autoinflammatory syndrome and immunodeficiency information:

  Genetic and Rare Diseases Information Center (GARD): https://rarediseases.info.nih.gov/diseases/12068/plcg2-associated-autoinflammatory-syndrome-and-immunodeficiency

• Additional resources and support for PLCG2-associated antibody deficiency and immune dysregulation:

  PlCG2 Association: https://www.plcg2.com

• Genes and small enzyme names associated with PLCG2 mutations:

  OMIM: https://www.omim.org/entry/172420#0004