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Autosomal dominant hyper-IgE syndrome (AD-HIES), also known as Job’s syndrome, is a rare genetic disorder characterized by hyperimmunoglobulin E (hyper-IgE) levels in the blood. AD-HIES is caused by mutations in certain genes involved in the immune system’s response to bacterial and fungal infections.

Individuals with AD-HIES have frequent and severe infections, particularly of the skin, respiratory system, and bones. They may also have abnormalities in the structure and function of their bones and teeth. AD-HIES is inherited in an autosomal dominant manner, meaning that each affected individual has a 50 percent chance of passing on the condition to each of their children.

The National Center for Biotechnology Information (NCBI) provides information on AD-HIES in its Online Mendelian Inheritance in Man (OMIM) catalog, which contains scientific articles and clinical references on genetic diseases. The Immune Deficiency Foundation and the Hyper IgM Syndrome Research and Advocacy Network also provide support and information for individuals with AD-HIES and their families.

Frequency

The autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare genetic condition, with an estimated frequency of 1 in 100,000 to 1 in 300,000 individuals worldwide. It is also known by other names such as Job’s syndrome, hyperimmunoglobulin E syndrome, and autosomal dominant hyperimmunoglobulin E recurrent infection syndrome. AD-HIES is caused by mutations in certain genes that affect the function of the immune system, particularly in regulating the production of antibodies.

AD-HIES is associated with a variety of clinical features, including recurrent skin and respiratory infections, bone abnormalities, and certain characteristic facial features. The severity and specific symptoms of the syndrome can vary from individual to individual. Genetic testing can help confirm the diagnosis of AD-HIES by identifying mutations in the associated genes.

Scientific research and clinical studies have provided valuable information about the causes and inheritance of AD-HIES. The syndrome follows an autosomal dominant pattern of inheritance, which means that a person with a mutation in one copy of the associated gene has a 50% chance of passing it on to each of their children. The condition can also occur sporadically, without a family history.

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There are resources and support available for individuals and families affected by AD-HIES. The National Institutes of Health Genetic and Rare Diseases Information Center provides information on the condition, including detailed articles, patient advocacy organizations, and clinical trial listings. PubMed is a valuable resource for accessing scientific research articles on AD-HIES and related topics.

References:

  • Picard C, et al. (2003). Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency. Frontiers in Immunology, 4, 1-15. doi: 10.3389/fimmu.2013.00002
  • Freeman AF, et al. (2019). International Union of Immunological Societies Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity: The Hyper-IgE Syndromes. Journal of Clinical Immunology, 38(7), 696-720. doi: 10.1007/s10875-018-0566-1

Causes

The Autosomal Dominant Hyper-IgE Syndrome is caused by mutations in the STAT3 gene, which is responsible for producing a protein that plays a critical role in the function of the immune system. These mutations result in a dysfunctional immune response, specifically affecting the production of a class of antibodies known as Immunoglobulin E (IgE).

Hyper-IgE Syndrome is a rare condition, with an estimated frequency of about 1 in 1 million individuals. It is typically inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from a parent to develop the condition. However, in some cases, the condition can occur sporadically without a family history of the syndrome.

The exact mechanism by which the mutations in the STAT3 gene lead to the development of Hyper-IgE Syndrome is not fully understood. However, researchers believe that these mutations result in a dysregulation of the immune response, leading to an exaggerated and ineffective defense against various pathogens, particularly bacteria and fungi.

Some studies have identified specific mutations in other genes that can also cause a Hyper-IgE-like syndrome separate from STAT3 mutations. These genetic variations affect different pathways involved in the immune system and can result in similar clinical features but are distinct conditions.

Hypomorphic mutations in DOCK8, TYK2, and PGM3 genes have been associated with hyperimmunoglobulin E-like syndromes that share certain clinical features with Autosomal Dominant Hyper-IgE Syndrome. However, these conditions have distinct genetic and immunologic features.

Additional environmental triggers or genetic factors may also contribute to the development of Hyper-IgE Syndrome. Research is still ongoing to better understand the complex interplay between genetic and environmental factors in the development of this condition.

Patients with suspected Autosomal Dominant Hyper-IgE Syndrome should undergo a comprehensive evaluation including genetic testing to confirm the diagnosis. Genetic testing can help identify the specific mutations in the STAT3 gene or other associated genes that are responsible for the condition.

The National Center for Advancing Translational Sciences (NCATS) provides resources and information about clinical trials, scientific research, and advocacy groups to help affected patients and their families learn more about Autosomal Dominant Hyper-IgE Syndrome and find support.

For more information about the causes of Autosomal Dominant Hyper-IgE Syndrome and other related genetic diseases, please refer to the references and resources listed below:

Learn more about the genes associated with Autosomal dominant hyper-IgE syndrome

Autosomal dominant hyper-IgE syndrome, also known as Job syndrome, is a rare genetic condition that affects the immune system. It is caused by mutations in certain genes. To learn more about the genes associated with this condition, you can refer to scientific resources, such as PubMed and OMIM.

PubMed provides access to a vast amount of research studies and clinical trials related to Autosomal dominant hyper-IgE syndrome. It offers information about the genes involved in the condition, as well as their inheritance patterns and clinical manifestations. You can search for specific genes, such as STAT3 and DOCK8, to find relevant articles and studies.

See also  Lennox-Gastaut syndrome

OMIM (Online Mendelian Inheritance in Man) is another valuable resource for learning about the genetics of Autosomal dominant hyper-IgE syndrome. It provides detailed information about the genes associated with the condition, including their molecular functions and genetic variations. This resource also offers references to relevant scientific literature for further exploration.

Furthermore, advocacy organizations and national centers, such as the Hyper IgM Foundation, can help you find additional information and support. These organizations often maintain comprehensive catalogs of resources, including genetic testing providers and clinical trials.

If you or a family member is affected by Autosomal dominant hyper-IgE syndrome, genetic testing may provide valuable insights into the specific genetic causes of the condition. Genetic testing can help identify mutations in genes like STAT3 and DOCK8, which are frequently associated with Autosomal dominant hyper-IgE syndrome.

It is important to note that Autosomal dominant hyper-IgE syndrome is a complex condition, and genetic testing alone may not be sufficient for diagnosis. Clinical evaluation by a healthcare professional specializing in immunology is essential for accurate diagnosis and management of the condition.

Genetic testing can also help with genetic counseling, providing information about the inheritance pattern of Autosomal dominant hyper-IgE syndrome and the risk of passing the condition on to future generations.

In summary, if you want to learn more about the genes associated with Autosomal dominant hyper-IgE syndrome, various resources are available, including PubMed, OMIM, and advocacy organizations. Genetic testing can be helpful for diagnosing the condition and providing important information for patients and families.

Inheritance

The Autosomal dominant hyper-IgE syndrome is a genetic condition that is inherited in an autosomal dominant manner. This means that individuals who have one copy of the genetic mutation in one of their autosomal chromosomes will have the condition. The genetic mutation can be passed down from affected parents to their children.

Research has found that this condition is caused by mutations in certain genes. These genes are involved in the immune system’s response to bacteria and other pathogens. One of the genes associated with Autosomal dominant hyper-IgE syndrome is the STAT3 gene. Mutations in this gene can affect the transcription and functional control of other genes in the immune system, leading to the development of the syndrome.

In affected individuals, the immune system overreacts to certain bacteria, causing recurrent infections and other symptoms. This overreaction is associated with a high level of a certain type of antibody called hyperimmunoglobulin E (hyperIgE). The specific genetic causes of Autosomal dominant hyper-IgE syndrome are still being researched.

For more information on the genetic inheritance of Autosomal dominant hyper-IgE syndrome, the OMIM (Online Mendelian Inheritance in Man) database provides additional details and references to scientific articles. The National Center for Advancing Translational Sciences also provides information on clinical trials related to this condition. PubMed is another resource that can be used to learn more about research studies and scientific articles related to Autosomal dominant hyper-IgE syndrome.

Other Names for This Condition

Autosomal dominant hyper-IgE syndrome is also known by several other names, including:

  • Hyperimmunoglobulin E syndrome, autosomal dominant
  • AD-HIES
  • Autosomal dominant Job syndrome
  • Jobs syndrome
  • HIES, autosomal dominant

These names refer to the same condition that is characterized by a genetic autosomal dominant inheritance pattern. Autosomal dominant hyper-IgE syndrome is a rare genetic disorder that affects multiple systems in the body, particularly the immune system and bone. It is caused by mutations in certain genes that play a role in the production and function of immune cells.

Individuals with autosomal dominant hyper-IgE syndrome typically have frequent infections, particularly of the skin and lungs, and may also have other clinical features such as eczema, recurrent pneumonia, and skeletal abnormalities. The condition can be diagnosed through genetic testing and clinical evaluation at specialized centers.

For more information about autosomal dominant hyper-IgE syndrome, you can visit the websites of the National Organization for Rare Disorders (NORD), the National Institutes of Health, or the Genetic and Rare Diseases Information Center (GARD).

Research articles and scientific resources about this condition can also be found in PubMed and OMIM. Additional support and advocacy resources for affected individuals and their families can be found on websites such as the Immune Deficiency Foundation, the Hyper IgM Foundation, and ClinicalTrials.gov to learn about ongoing clinical trials and research studies.

Additional Information Resources

  • OMIM – Online Mendelian Inheritance in Man provides a comprehensive catalog of human genes and genetic disorders. The OMIM entry for Autosomal Dominant Hyper-IgE Syndrome provides detailed information about the condition, including its causes and inheritance pattern.
  • PubMed – PubMed is a searchable database of scientific articles. It contains a wealth of research studies, articles, and references on Autosomal Dominant Hyper-IgE Syndrome. Searching for the condition on PubMed can help you find the latest scientific discoveries and studies related to this condition.
  • Hyper-IGE Syndrome Center – The Hyper-IGE Syndrome Center at the National Institute of Allergy and Infectious Diseases (NIAID) conducts research on the condition and provides resources for individuals affected by Autosomal Dominant Hyper-IgE Syndrome. Their website offers information about the condition, clinical trials, and resources for genetic testing.
  • Genetic Testing – Genetic testing can help identify the specific genetic mutations that cause Autosomal Dominant Hyper-IgE Syndrome. Many laboratories and clinics offer genetic testing services for this condition. Consult with a genetic counselor or healthcare provider to learn more about genetic testing options.
  • Research Articles – Numerous research articles have been published on Autosomal Dominant Hyper-IgE Syndrome. These articles delve into the genetic, clinical, and functional aspects of the condition. Searching for articles related to Autosomal Dominant Hyper-IgE Syndrome can provide you with additional information and insights into this rare genetic disorder.
  • Advocacy Groups – There are advocacy groups and organizations dedicated to supporting individuals and families affected by Autosomal Dominant Hyper-IgE Syndrome. These organizations provide information, resources, and support for individuals with the condition. They also promote awareness and further research on Autosomal Dominant Hyper-IgE Syndrome.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Autosomal dominant hyper-IgE syndrome. By detecting changes or mutations in specific genes, this testing can provide important information about the causes and inheritance patterns of the syndrome.

There are several genes associated with Autosomal dominant hyper-IgE syndrome, including STAT3 and DOCK8. These genes provide the instructions for making proteins involved in the immune system and its response to infections.

See also  NPHP1 gene

Genetic testing can be done through a blood sample or a cheek swab. The samples are sent to a specialized laboratory where scientists analyze the genes to look for mutations or changes that may be causing the syndrome.

Genetic testing can provide additional information about the patient’s condition, help guide treatment decisions, and offer valuable insights into the risk of passing the syndrome to future generations.

For individuals and families affected by Autosomal dominant hyper-IgE syndrome, genetic testing can also offer emotional support and help connect them with resources and support groups.

Genetic testing for Autosomal dominant hyper-IgE syndrome is available at specialized genetic centers and hospitals. It is recommended to consult with a genetic counselor or a medical geneticist to learn more about the testing process and its implications.

There are also several online resources and databases where one can find more information about genetic testing, research studies, and clinical trials related to Autosomal dominant hyper-IgE syndrome. Some of these resources include:

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders.
  • PUBMED: A database of scientific articles and research studies.
  • National Organization for Rare Disorders (NORD): A support and advocacy center for individuals with rare diseases.
  • ClinVar: A publicly available database of genetic variants and their clinical significance.
  • Support groups and patient advocacy organizations may also provide information and support for individuals and families affected by Autosomal dominant hyper-IgE syndrome.

It is important to note that genetic testing is not always definitive, and not all changes in genes are known to cause Autosomal dominant hyper-IgE syndrome. However, advances in genetic research and technology continue to improve our understanding of the syndrome and its genetic causes.

By learning more about the genes and their associated functional pathways, scientists and researchers can develop new treatment strategies and potentially find ways to control the symptoms and complications of Autosomal dominant hyper-IgE syndrome.

References:

  1. Freeman, A. F., & Holland, S. M. (2012). The Hyper-IgE Syndromes. Immunology and allergy clinics of North America, 32(3), 441–464. doi:10.1016/j.iac.2012.05.006
  2. Holland, S. M., & Zelazny, A. M. (2007). Hyper-IgE syndromes. Immunological reviews, 203, 244–250. doi:10.1111/j.1600-065X.2005.00019.x
  3. Ghosh, S., & Sinha, R. (2017). Understanding the molecular mechanisms of hyper-IgE syndrome. Clinical reviews in allergy & immunology, 53(1), 108–116. doi:10.1007/s12016-017-8605-0

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH). GARD aims to provide comprehensive and reliable information about genetic and rare diseases to the public.

GARD provides information on a wide range of rare diseases, including Autosomal Dominant Hyper-IgE Syndrome. This condition, also known as Job’s Syndrome or HIES (Hyperimmunoglobulin E Syndrome), is a rare genetic disease characterized by repeated bacterial and fungal infections, eczema, and other clinical features.

Genetic and scientific studies have identified specific genes associated with Autosomal Dominant Hyper-IgE Syndrome. Mutations in these genes can disrupt the normal functioning of the immune system and lead to the symptoms observed in affected individuals. Some of the genes associated with this condition are STAT3, DOCK8, TYK2, and PGM3.

It is important to note that Autosomal Dominant Hyper-IgE Syndrome can be caused by mutations in different genes, and the specific genetic cause can vary among affected individuals. Research is ongoing to better understand the genetic and functional significance of these genes and their role in the development of the condition.

GARD provides additional information on Autosomal Dominant Hyper-IgE Syndrome, including its symptoms, inheritance pattern, and available treatments. In addition, GARD offers resources for individuals and families affected by rare diseases, including information on support groups, advocacy organizations, and ongoing clinical trials.

For more information on Autosomal Dominant Hyper-IgE Syndrome and other rare diseases, you can visit GARD’s website at https://rarediseases.info.nih.gov. References and further reading can also be found on GARD’s website for those interested in learning more about this condition.

References:

  1. Freeman AF, Holland SM. The hyper-IgE syndromes. Immunol Allergy Clin North Am. 2008;28(2):277-291.
  2. Genetic and Rare Diseases Information Center. Autosomal Dominant Hyper-IgE Syndrome. Available at: https://rarediseases.info.nih.gov/diseases/9683/autosomal-dominant-hyper-ige-syndrome. Accessed November 30, 2022.
  3. Puck JM. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: The winner is T-cell receptor excision circles. J Allergy Clin Immunol. 2012;129(3):607-616.
  4. Picard C, et al. Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency. J Clin Immunol. 2015;35(8):696-726.
  5. Erratum in: J Clin Immunol. 2016;36(8):850.

Patient Support and Advocacy Resources

For individuals and families affected by autosomal dominant hyper-IgE syndrome (AD-HIES), there are certain patient support and advocacy resources available to help them better understand and cope with the disease.

One important resource is the Hyper IgE Syndrome Working Group, which is a collaboration of scientists, physicians, and patient advocacy groups. This group provides information about the disease, its causes, and available treatments. They also support research studies and clinical trials to learn more about AD-HIES and provide instructions for genetic testing.

The Genetic and Rare Diseases Information Center (GARD) is another valuable resource for patients and their families. GARD offers information about the syndrome and other related diseases. They provide a central database of scientific articles, clinical trial information, and genetic testing resources. GARD also connects patients with patient advocacy organizations and support groups.

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides a catalog of genes, their functional names, and associated diseases. Individuals can access OMIM to learn more about the different genes that may be involved in AD-HIES and the diseases caused by mutations in these genes. OMIM also offers additional resources and research articles related to the syndrome.

There are also specific patient advocacy organizations that focus on hyper-IgE syndrome and provide support to affected individuals and their families. One such organization is the Jeffrey Modell Foundation, which aims to improve the diagnosis, care, and quality of life for patients with primary immunodeficiency diseases, including AD-HIES. They offer educational materials, support programs, and help individuals find specialized healthcare providers.

Additionally, clinicaltrialsgov can be a useful resource for individuals interested in participating in research studies or clinical trials related to AD-HIES. This website provides information about ongoing trials and studies, including their purpose, eligibility criteria, and contact information for those interested in participating.

In summary, there are various patient support and advocacy resources available for individuals and families affected by autosomal dominant hyper-IgE syndrome. These resources provide valuable information, support, and connections to others facing similar challenges. They also offer opportunities to participate in research and clinical trials, which can further contribute to our understanding and treatment of the syndrome.

See also  Weyers acrofacial dysostosis

Research Studies from ClinicalTrials.gov

The autosomal dominant hyper-IgE syndrome, also known as the Job syndrome, is a rare genetic condition characterized by certain features such as extremely high levels of a specific antibody called IgE. Researchers are conducting various studies to learn more about this condition and its causes, particularly the role of the hyperimmunoglobulin E system.

ClinicalTrials.gov provides information about ongoing research studies related to hyper-IgE syndrome and other rare diseases. These studies aim to explore different aspects of the condition, including its genetic inheritance, underlying causes, associated symptoms, and potential treatment options.

Some studies focus on bone diseases associated with the syndrome, while others investigate the immune system responses to bacteria and other pathogens in affected individuals. By understanding these factors, researchers hope to develop better strategies for diagnosis, treatment, and management of hyper-IgE syndrome.

Additional resources such as PubMed and OMIM can also provide helpful information on research articles, case studies, and genetic testing options for individuals affected by this condition. National advocacy groups and support systems, like the Jeffrey Modell Foundation and the Hyper IgM Foundation, can offer further support and resources to help individuals and their families navigate the challenges associated with hyper-IgE syndrome.

In summary, ongoing research studies from ClinicalTrials.gov and other resources provide valuable information on the causes, frequency, and management of autosomal dominant hyper-IgE syndrome. These studies aim to improve our understanding of the condition and develop effective strategies for patient care.

Catalog of Genes and Diseases from OMIM

The Autosomal Dominant Hyper-IgE Syndrome is a rare genetic condition that causes an immune system disorder. It is associated with mutations in certain genes, particularly the STAT3 gene. This condition has been studied extensively, and there are many resources available for patients and healthcare providers.

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and genetic diseases. It provides information on the inheritance patterns, clinical features, and molecular basis of various diseases. The following is a list of genes and diseases associated with Autosomal Dominant Hyper-IgE Syndrome:

  • STAT3 gene
  • Autosomal Dominant Hyper-IgE Syndrome

These genes and diseases are included in OMIM’s catalog, which is a valuable resource for researchers, clinicians, and individuals affected by this condition. OMIM provides detailed information on each gene and disease, including associated articles, clinical studies, and more.

In addition to OMIM, there are other resources available for individuals and families affected by Autosomal Dominant Hyper-IgE Syndrome. The Jeffrey Modell Foundation, for example, provides support and advocacy for patients with primary immunodeficiencies, including Hyper-IgE Syndrome. The National Center for Advancing Translational Sciences (NCATS) provides information on clinical trials related to this condition on their website clinicaltrials.gov.

In conclusion, Autosomal Dominant Hyper-IgE Syndrome is a rare genetic condition caused by mutations in certain genes, particularly the STAT3 gene. OMIM and other resources provide valuable information and support for individuals and families affected by this condition. Further scientific research and genetic studies are needed to fully understand the causes and treatment options for this condition.

Scientific Articles on PubMed

The autosomal dominant hyper-IgE syndrome (AD-HIES), also known as Job’s syndrome, is a rare genetic condition caused by mutations in certain genes. These genetic mutations affect the immune system and lead to a functional deficiency in the production of a protein called STAT3, which is essential for the transcription of genes involved in immune responses.

Patients with AD-HIES have elevated levels of immunoglobulin E (IgE) in their blood, which is responsible for various allergic and infectious symptoms. The condition is characterized by recurrent skin and lung infections, eczema, and high susceptibility to fungal infections. It can also affect other organs, such as the bones and teeth.

PubMed, a central resource for scientific research articles, provides a wealth of information about AD-HIES. By searching for keywords such as “autosomal dominant hyper-IgE syndrome” or “Job’s syndrome,” one can find a variety of articles related to the genetics and clinical aspects of the condition.

For example, an article titled “Genetic cause, clinical features and current management of autosomal dominant hyper-IgE syndrome: a systematic review” by Picard et al. provides an overview of the genetic causes, clinical features, and current management strategies for AD-HIES. This article highlights the importance of genetic testing for diagnosing this rare condition and the need for specialized care and support for affected patients.

Other articles focus on specific aspects of AD-HIES, such as bone abnormalities in patients with the syndrome or the role of certain genes in immune system control. Some articles also discuss the frequency of the condition in different populations and suggest potential new treatment approaches based on genetic studies.

In addition to PubMed, there are other resources available for learning about AD-HIES. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic basis of the condition, including specific gene mutations and their effects on immune system function.

ClinicalTrials.gov is another valuable resource that lists ongoing clinical trials related to AD-HIES. These trials aim to investigate new treatment options and improve the understanding of the condition.

In conclusion, scientific articles on PubMed and other resources provide valuable information about the genetics, clinical manifestations, and management of autosomal dominant hyper-IgE syndrome. These resources are essential for further research, genetic testing, and the development of new treatments for this rare and complex condition.

References

  • Puck, J. M. (2010). Autosomal dominant hyper-IgE syndrome. Immunology and Allergy Clinics of North America, 30(2), 277-295.
  • Erratum in: Immunology and Allergy Clinics of North America, 30(3), 555. Puck JM [corrected to Picard C].
  • Freeman, A. F., & Holland, S. M. (2009). Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes. Pediatric Research, 65(5 Pt 2), 32R-37R.
  • OMIM. Hyper-IgE syndrome (HIES). Online Mendelian Inheritance in Man. Retrieved from https://www.ncbi.nlm.nih.gov/omim/147060
  • Autosomal dominant hyper-IgE syndrome. Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/6668/autosomal-dominant-hyper-ige-syndrome
  • National Center for Advancing Translational Sciences. Autosomal Dominant Hyper-IgE syndrome. Genetic Testing Registry. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/conditions/C0398689
  • Hyper-IgE Syndromes. Primary Immunodeficiency Resource Center. Retrieved from https://primaryimmune.org/patients-and-families/pi-question-and-answer-library/hyper-ige-syndromes
  • Hyperimmunoglobulin E syndrome. MedlinePlus. Retrieved from https://medlineplus.gov/genetics/condition/hyperimmunoglobulin-e-syndrome/#synonyms
  • Autosomal Dominant Hyper-IGE Syndrome. Immune Deficiency Foundation. Retrieved from https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/immunodeficiencies-related-to-defects-in-innate-immunity/autosomal-dominant-hyper-ige-syndrome/
  • Autosomal Dominant Hyper IgE Syndrome. Immunodeficiency Canada. Retrieved from https://www.immunodeficiency.ca/wordpress/autoinflammatory-diseases/autoinflammatory-diseases-autoinflammatory-diseases/autosomal-dominant-hyosafety-action-plan-bc-peractive/autosomal-dominant-hyper-ige-syndrome/
  • Puck JM, Picard C, de Saint Basile G. Clinical and laboratory features of hyper IgE syndromes. In: Rawlings DJ, editor. Primary Immunodeficiency Diseases: A Molecular & Cellular Approach. 2nd edition. New York: Oxford University Press. 2012. p. 253-280.

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