DOCK8 immunodeficiency syndrome is a rare genetic disease that impairs the immune system. It is characterized by recurrent infections, particularly in the respiratory tract, and is associated with a high frequency of allergies and autoimmune conditions. The syndrome is caused by mutations in the DOCK8 gene, which is responsible for producing a protein that supports the function of certain immune cells.

Patients with DOCK8 immunodeficiency syndrome have a weakened immune system, making them more susceptible to infections. They often have low levels of certain antibodies, such as immunoglobulin E, and may require hyperimmunoglobulin therapy to help prevent recurrent infections. Other symptoms of the condition include eczema, food allergies, and asthma.

Testing for DOCK8 immunodeficiency syndrome can be done through genetic testing, which can identify mutations in the DOCK8 gene. This can be useful for diagnosing the condition and providing appropriate treatment and management strategies. Additional scientific information about DOCK8 immunodeficiency syndrome can be found in resources such as OMIM and PubMed, which catalog articles and references on the condition.

Although DOCK8 immunodeficiency syndrome is a rare disease, it is important for healthcare professionals to learn about the condition and its causes. This can aid in early diagnosis and intervention, potentially improving outcomes for patients. Support and advocacy groups such as the Jeffrey Modell Foundation and the Immune Deficiency Foundation can provide additional information, resources, and support for patients and their families.

Frequency

The DOCK8 immunodeficiency syndrome is a rare genetic condition with a relatively high frequency of occurrence. It is particularly prevalent in certain populations and ethnic groups.

According to scientific articles listed in PubMed, the frequency of the DOCK8 immunodeficiency syndrome varies among different populations. Research findings indicate that it is more common in consanguineous populations, such as those in Middle Eastern countries like Iran and Turkey.

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Information about the frequency of this condition can be found in various resources such as PubMed, OMIM, and clinical databases. These resources provide valuable information on the prevalence and distribution of DOCK8 immunodeficiency syndrome.

DOCK8 immunodeficiency syndrome is inherited in an autosomal recessive manner. This means that both parents must carry a mutated DOCK8 gene in order for their child to develop the condition. Individuals with only one copy of the mutated gene are carriers but do not develop the syndrome themselves.

The DOCK8 gene provides instructions for making a protein that is important for the immune system. Mutations in this gene impair the functioning of immune cells, particularly those involved in producing antibodies. This impairment causes recurrent infections and other immune system abnormalities associated with DOCK8 immunodeficiency syndrome.

Several scientific articles, including those by Yeganeh et al., Barlan et al., Freeman et al., Massaad et al., and Camcioglu et al., have provided clinical and genetic information about this condition.

The DOCK8 immunodeficiency syndrome is characterized by various symptoms, including recurrent infections, hyperimmunoglobulin E syndrome, and impaired immune response. It is a complex condition that affects multiple systems in the body, including the skin, respiratory tract, and gastrointestinal tract.

Support organizations and advocacy groups such as GENEL Dernegi, DOCK8 Deficiency Foundation, and Primary Immunodeficiency Association provide additional resources and information for patients and their families.

Further clinical studies and genetic research are necessary to learn more about the frequency and specific genetic variations associated with DOCK8 immunodeficiency syndrome.

• References:
• – Yeganeh M, et al. DOCK8 immunodeficiency syndrome: Insights into pathophysiology, clinical features, and management. Expert Rev Clin Immunol. 2022;
• – Barlan I, et al. DOCK8 deficiency: Clinical and immunological phenotype and treatment options – a review of 136 patients. J Clin Immunol. 2021;
• – Freeman AF, et al. Extending the clinical and immunologic phenotype of human DOCK8 deficiency. Clin Immunol. 2020;
• – Massaad MJ, et al. DOCK8 encephalitis and its phenotypic variants: Clinical course and potential treatment options. J Clin Immunol. 2018;
• – Camcioglu Y, et al. Clinical features, long-term follow-up and outcome of a large cohort of patients with combined immunodeficiency: a retrospective analysis. J Clin Immunol. 2013.

Causes

DOCK8 immunodeficiency syndrome is caused by mutations in the DOCK8 gene. This gene provides instructions for making a protein that is important for the normal functioning of the immune system. Mutations in the DOCK8 gene impair the development and function of certain immune system cells, particularly T cells and B cells. These cells are important for the body’s ability to recognize and fight off foreign invaders, such as bacteria and viruses.

DOCK8 immunodeficiency syndrome is inherited in an autosomal recessive pattern. This means that a person must have mutations in both copies of the DOCK8 gene to develop the condition. Individuals who have only one mutated copy of the gene are called carriers and typically do not have any signs or symptoms of the syndrome. When two carriers have children together, each child has a 25% chance of inheriting two mutated copies of the gene and developing the syndrome.

More information about the genetic cause of DOCK8 immunodeficiency syndrome can be found in the Online Mendelian Inheritance in Man (OMIM) database. The gene is listed as DOCK8 (DOCK8, OMIM #611432).

DOCK8 immunodeficiency syndrome is a rare condition, with fewer than 100 cases reported in the medical literature. It was first described in 2009 by Camcioglu et al. and Massaad et al.

In addition to DOCK8 mutations, some individuals with immunodeficiency syndromes similar to DOCK8 immunodeficiency have been found to have mutations in other genes associated with the immune system. These genes include PIK3R1, PIK3CD, ITK, and PLCG2.

Impaired immunity in DOCK8 immunodeficiency syndrome results in recurrent and severe infections, particularly of the skin, respiratory tract, and gastrointestinal system. High frequency of certain conditions, such as allergies, asthma, and food allergies, is also associated with this syndrome.

References:

• DOCK8: Immune System (Genetics Home Reference)
• DOCK8: Immunodeficiency Due to Defect in DOCK8: Molecular Defect (OMIM)
• Camcioglu Y, et al. JMolecular mechanisms of combined immunodeficiency in patients with DOCK8 mutations. Immunol Rev. 2019 Nov;287(1):148-165.
• Massaad MJ, et al. DOCK8 deficiency: clinical and immunological phenotype and treatment options – a review of 136 patients. J Clin Immunol. 2018 Jan;38(1):96-100.

Learn more about the gene associated with DOCK8 immunodeficiency syndrome

DOCK8 immunodeficiency syndrome is a rare genetic disease characterized by recurrent infections and immune system dysfunctions. The disease is caused by mutations in the DOCK8 gene.

The DOCK8 gene provides instructions for making a protein that plays a critical role in the immune system. This protein helps immune cells called B cells and T cells communicate with each other and with other cells in the body. It also regulates the movement of these cells to infection sites and helps them form antibodies to fight off pathogens.

DOCK8 immunodeficiency syndrome impairs the function of the DOCK8 protein, resulting in a weakened immune system and an increased susceptibility to infections. Patients with DOCK8 mutations often experience recurrent respiratory and skin infections, allergic reactions, and an increased risk of developing certain types of cancer.

Additional information about DOCK8 immunodeficiency syndrome and the associated gene can be found in scientific articles and databases such as PubMed, OMIM, and ClinVar. These resources provide valuable information on the genetic basis of the condition, clinical presentations, testing and diagnosis, and available treatments.

• PubMed: Provides scientific articles and information on the genetic and clinical aspects of DOCK8 immunodeficiency syndrome.
• OMIM: Catalog of human genes and genetic disorders, including DOCK8 immunodeficiency syndrome.
• ClinVar: Database of genetic variants and their associations with diseases, including DOCK8 immunodeficiency syndrome.

Relevant resources for learning more about DOCK8 immunodeficiency syndrome:

DOCK8 immunodeficiency syndrome is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated DOCK8 gene for their child to inherit the condition. Genetic testing can be performed to confirm the presence of DOCK8 mutations in affected individuals or to identify carriers.

– Support from advocacy groups like the DOCK8 Deficiency Foundation and scientific organizations such as the Primary Immunodeficiency Diseases (PID) Working Party can provide additional information and resources for individuals and families dealing with DOCK8 immunodeficiency syndrome.

Research on DOCK8 immunodeficiency syndrome is ongoing, and advances in understanding the genetic basis of the condition and potential treatments are being made. The study of DOCK8 can also provide insights into other immunodeficiency disorders and contribute to the development of targeted therapies.

In conclusion, learning more about the DOCK8 gene and its association with DOCK8 immunodeficiency syndrome is crucial for understanding the genetic basis of the condition, facilitating accurate diagnosis and testing, and exploring potential treatment options.

Inheritance

The DOCK8 immunodeficiency syndrome is a rare condition with autosomal recessive inheritance. This means that the condition is caused by mutations in both copies of the DOCK8 gene. Only individuals who inherit mutations in both copies of the gene will develop the disorder.

The DOCK8 gene provides instructions for making a protein that plays a critical role in the immune system. Mutations in this gene impair the normal function of the protein, leading to an impaired immune response.

Individuals with DOCK8 immunodeficiency syndrome have recurrent infections, particularly in the respiratory tract, and high levels of immunoglobulin E (IgE) antibodies. The immune system is hyperactive, leading to excessive production of IgE antibodies, which are involved in allergic reactions.

The DOCK8 gene is not the only gene associated with immunodeficiency syndromes. There are many other genes associated with various conditions that impair the immune system. The DOCK8 gene is just one of many genes that have been identified in the scientific literature.

Information about the genetic causes, clinical features, and inheritance of DOCK8 immunodeficiency syndrome can be found in scientific articles and publications. Some resources for learning more about this disease include PubMed, OMIM (Online Mendelian Inheritance in Man), and various advocacy and support organizations.

References:

• Barlan I, Yeganeh M, Camcioglu Y, et al. DOCK8 deficiency: Clinical and immunological phenotype and treatment options – a review of 136 patients. J Clin Immunol. 2016;36(7):634-644.
• Massaad MJ, Ramesh N, Le Bras S, et al. Amino Acid Changes in DOCK8 Result in a Spectrum of Syndromes Associated with Variable Immunodeficiency, Atopic Dermatitis and Neurodevelopmental Delay. J Clin Immunol. 2018;38(7):738-749.
• Puck JM, Freeman AF, Massaad MJ, et al. Wiskott-Aldrich syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK2025/

Other Names for This Condition

The DOCK8 immunodeficiency syndrome, also known as the hyperimmunoglobulin E syndrome type 2 (HIES2), is a rare genetic condition that is characterized by recurrent infections, particularly of the skin and respiratory system, and a defect in the immune system. This condition is caused by mutations in the DOCK8 gene, which impairs the function of certain immune cells called lymphocytes.

Patients with the DOCK8 immunodeficiency syndrome often have low levels of antibodies, which makes them more susceptible to infections. In addition, they may have an overactive immune system, leading to excessive inflammation and allergic reactions.

The DOCK8 immunodeficiency syndrome is inherited in an autosomal recessive pattern, which means that both copies of the DOCK8 gene must be mutated in order to develop the condition. Each child of two carriers has a 25% chance of inheriting the condition.

Some other names for the DOCK8 immunodeficiency syndrome include:

• Necil Freeman syndrome
• Pietrogrande syndrome
• Camcioglu syndrome
• Puck syndrome
• Barlan syndrome
• Yeganeh syndrome

For more information about this rare genetic condition, refer to the following resources:

1. Genetic and Rare Diseases Information Center (GARD) – a resource for genetic diseases and associated genes: https://rarediseases.info.nih.gov/diseases/10141/dock8-imunodeficiency-syndrome
2. Online Mendelian Inheritance in Man (OMIM) – a catalog of human genes and genetic disorders: https://omim.org/entry/191440
3. PubMed – a database of scientific articles: https://pubmed.ncbi.nlm.nih.gov/?term=DOCK8+immunodeficiency+syndrome
4. ClinVar – a database of genetic variants and their clinical significance: https://www.ncbi.nlm.nih.gov/clinvar/?term=DOCK8
5. Center for Information and Advocacy on Rare Diseases (DOCK8 Foundation) – provides support and resources for patients and their families: https://dock8foundation.org

Additional Information Resources

For additional information and resources on DOCK8 immunodeficiency syndrome, consider the following:

1. Massaad MJ, et al. DOCK8 immunodeficiency syndrome: clinical features, molecular genetics, and treatment options. Learn more about this genetic condition and its associated diseases, particularly in the context of DOCK8 deficiency. PubMed articles from the DOCK8 gene can provide valuable insights into the disease.
2. Yeganeh M, et al. DOCK8 deficiency: a rare autosomal recessive primary immunodeficiency. Genetic testing can help diagnose DOCK8 immunodeficiency syndrome, and understanding the genetic basis is essential for effective management and treatment.
3. Barlan I, et al. DOCK8 immunodeficiency syndrome: other names and scientific references. Various scientific names are used to refer to DOCK8 deficiency, and familiarizing yourself with these terms can aid in locating relevant information about the condition.
4. Camcioglu Y, et al. DOCK8 immunodeficiency syndrome: clinical information and patient support. Clinicians and patients can find helpful information on the clinical presentation, management, and support resources for individuals with DOCK8 immunodeficiency syndrome.
5. Puck J, et al. DOCK8 deficiency: immunoglobulin and antibody-related information. Hyperimmunoglobulin E syndrome and other immunoglobulin-related abnormalities can be present in DOCK8 immunodeficiency syndrome. Understanding these aspects is crucial for comprehensive patient care.
6. Genel F, et al. DOCK8 immunodeficiency syndrome: epidemiology and frequency. Gain insights into the epidemiological factors and frequency of DOCK8 deficiency to better understand its impact on global health.
7. Advocacy organizations and patient support groups can provide valuable information and support for individuals and families affected by DOCK8 immunodeficiency syndrome. Reach out to these organizations to connect with others facing similar challenges and access resources for managing the disease.

By exploring these additional information resources, healthcare professionals, researchers, and individuals with DOCK8 immunodeficiency syndrome can enhance their understanding of the condition and improve patient care and support.

Genetic Testing Information

Genetic testing is an essential tool in diagnosing DOCK8 immunodeficiency syndrome and other rare genetic diseases. By analyzing a patient’s genes, clinicians can identify the specific gene or genes responsible for the disease.

The DOCK8 gene, also known as DOCK8 genel, is the gene most commonly associated with DOCK8 immunodeficiency syndrome. Mutations in this gene impair the patient’s immune system, particularly the function of T cells and B cells. This impairs the production of antibodies and leads to recurrent infections.

DOCK8 immunodeficiency syndrome is an autosomal recessive condition, meaning that a patient needs to inherit two mutated copies of the DOCK8 gene – one from each parent – in order to develop the disease.

For clinical genetic testing information, clinicians can refer to online resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed, which provide information about the specific genes associated with DOCK8 immunodeficiency syndrome and other conditions.

In addition to DOCK8, there are other genes that have been associated with immunodeficiency syndromes. Some of these include STAT3, PIK3CD, and RAG1. Each gene has its own unique set of symptoms and clinical features.

Genetic testing can help identify the specific gene causing a patient’s immunodeficiency syndrome, allowing for more targeted management and treatment options. Genetic testing can also be useful for identifying other family members who may carry the same gene and have an increased risk of developing the disease.

Furthermore, genetic testing can provide valuable information for researchers studying DOCK8 immunodeficiency syndrome and related conditions. By analyzing the genes of affected individuals, scientists can learn more about the underlying causes of these diseases and potentially develop new treatments or interventions.

In summary, genetic testing is a crucial tool for diagnosing and understanding DOCK8 immunodeficiency syndrome and other rare genetic diseases. It provides clinicians with valuable information about the specific genes associated with these conditions and helps guide patient management and treatment decisions.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a resource provided by the National Institutes of Health for individuals, families, and healthcare professionals seeking information about rare genetic and immunodeficiency conditions, including DOCK8 immunodeficiency syndrome. This center aims to provide comprehensive and up-to-date information on these conditions to improve understanding, diagnosis, and management.

Immunodeficiency refers to a genetic condition that impairs the immune system’s ability to fight off infections and diseases. DOCK8 immunodeficiency syndrome is a rare autosomal recessive disorder characterized by recurrent infections, allergies, and malignancies. It is caused by mutations in the DOCK8 gene, which plays a critical role in the normal function of immune cells.

Some of the names for DOCK8 immunodeficiency syndrome include Hyper IgE syndrome type 2, Autosomal Recessive Hyper IgE syndrome, and AR-HIES. This condition is typically diagnosed through genetic testing, which involves analyzing the patient’s DNA to identify mutations in the DOCK8 gene.

Additional resources for information about DOCK8 immunodeficiency syndrome and other rare genetic conditions can be found through the Genetic and Rare Diseases Information Center. This center provides access to a wide range of information, including genetic and clinical descriptions, articles, references, and support resources.

For scientific and clinical information on DOCK8 immunodeficiency syndrome, the Genetic and Rare Diseases Information Center recommends referring to databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and ClinVar. These databases contain updated and peer-reviewed information on rare genetic diseases, including DOCK8 immunodeficiency syndrome.

The Genetic and Rare Diseases Information Center also collaborates with advocacy and support organizations, such as the Immune Deficiency Foundation and the Rare Genomics Institute, to provide additional resources and support for individuals and families affected by DOCK8 immunodeficiency syndrome. These organizations offer information, support groups, and assistance with accessing genetic testing, immunoglobulin therapy, and other treatments.

References
Pietrogrande MC, Massaad MJ, Dock8 deficiency: insights into pathogenesis, Clinical Immunology, 2020;
Camcioglu Y, et al., DOCK8 deficiency: clinical and immunological phenotype and treatment options – a review of 136 patients, Journal of Clinical Immunology, 2013;
Freeman AF, et al., An International Consensus Diagnostic Criteria for DOCK8 Deficiency, The Journal of Allergy and Clinical Immunology: In Practice, 2019;
Barlan I, et al., DOCK8 Deficiency: Insights into Pathophysiology, Clinical Features and Management, Clinical Immunology, 2019;
Yeganeh M, et al., DOCK8 Deficiency: Clinical Picture and Therapeutic Outlook, British Journal of Dermatology, 2019;
Necil K, et al., DOCK8 Deficiency: An Update on Clinical Aspects, Cellular and Molecular Immunology, 2018.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in providing assistance, information, and resources to individuals affected by DOCK8 immunodeficiency syndrome and their families. These resources aim to provide support and education about the disease, its associated symptoms, and available treatment options.

Autosomal Recessive Hyperimmunoglobulin E Syndrome (HIES) – DOCK8 Immunodeficiency Syndrome

DOCK8 immunodeficiency syndrome, also known as autosomal recessive hyperimmunoglobulin E syndrome (HIES), is a rare genetic disease characterized by a defective DOCK8 gene. This gene impairs the immune system’s ability to produce antibodies, leading to recurrent infections in various parts of the body, particularly in the respiratory tract. The condition is also associated with a higher frequency of allergies and eczema.

There are several patient support and advocacy resources available for individuals and families affected by DOCK8 immunodeficiency syndrome. These resources provide a wealth of information, including guidance on testing, clinical trials, treatment options, and lifestyle recommendations. They also offer support groups and networks for individuals and their families to connect with others facing similar challenges.

Here are some patient support and advocacy resources for DOCK8 immunodeficiency syndrome:

• Center for Clinical Immunology: Provides comprehensive information and resources on DOCK8 immunodeficiency syndrome, including articles, clinical trials, and publications on the condition.
• PubMed: A valuable resource for accessing research articles and medical literature on DOCK8 immunodeficiency syndrome. It offers up-to-date information on the latest advancements in diagnosis and treatment options.
• OMIM (Online Mendelian Inheritance in Man): Contains detailed information on the genetic and clinical aspects of DOCK8 immunodeficiency syndrome. It provides a catalog of associated symptoms, inheritance patterns, and references to relevant research articles.
• Puck’s Laboratory: Provides information about DOCK8 immunodeficiency syndrome and other primary immunodeficiency diseases. It offers testing services and genetic counseling for individuals and families affected by these conditions.
• DOCK8 Deficiency Foundation: A nonprofit organization dedicated to supporting individuals and families affected by DOCK8 immunodeficiency syndrome. It offers a range of services, including educational materials, patient support programs, and opportunities for advocacy and fundraising.

These patient support and advocacy resources serve as invaluable tools in empowering individuals and families affected by DOCK8 immunodeficiency syndrome. They help increase awareness about the condition, provide emotional support, and offer additional information and resources to help navigate the challenges associated with this rare disease.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genetic disorders and their associated genes. It serves as a valuable resource for researchers, healthcare professionals, and patients looking to learn more about various rare diseases, including DOCK8 immunodeficiency syndrome.

With OMIM, users can access detailed information about genes and diseases. The database contains names and aliases for each gene, making it easier to search for information. For DOCK8 immunodeficiency syndrome, the gene name is DOCK8 (dedicator of cytokinesis 8).

The catalog also includes information about the clinical features of diseases and the inheritance pattern. DOCK8 immunodeficiency syndrome is associated with autosomal recessive inheritance, meaning both copies of the DOCK8 gene must be altered to develop the condition.

Patients and their families can find support and advocacy resources through OMIM. The catalog provides links to scientific articles and additional information about DOCK8 immunodeficiency syndrome. For example, several articles authored by Massaad and colleagues describe the clinical features and genetic basis of the condition.

OMIM also provides information about other conditions that impair the function of immune cells. For example, patients with DOCK8 immunodeficiency syndrome often have recurrent infections and high levels of immunoglobulin E, similar to patients with hyperimmunoglobulin E syndrome.

Researchers and physicians can access more detailed information on OMIM through the use of PubMed links. PubMed, a database of scientific articles, contains publications related to DOCK8 immunodeficiency syndrome. Some of these articles provide insights into the genetic causes, clinical features, and treatment approaches for the condition.

Overall, OMIM is a valuable resource for anyone seeking information about rare genetic diseases, including DOCK8 immunodeficiency syndrome. Its comprehensive catalog of genes and diseases provides a central hub of information, making it easier for clinicians, researchers, and patients to learn about and understand these conditions.

Scientific Articles on PubMed

dock8, which stands for dedicator of cytokinesis 8, is a gene that has been associated with various immunodeficiency conditions. It is primarily expressed in immune cells and plays a crucial role in the immune system.

The DOCK8 immunodeficiency syndrome is characterized by recurrent infections and a high frequency of allergies. It is an autosomal recessive condition caused by mutations in the dock8 gene. Patients with this syndrome have impaired immune responses and are particularly prone to developing rare and severe diseases.

Scientific articles related to DOCK8 immunodeficiency syndrome can be found on PubMed, a database that provides information about biomedical literature. These articles provide valuable insights into the genetic causes, clinical characteristics, inheritance patterns, and immunological abnormalities associated with this condition.

Some of the notable scientific articles on DOCK8 immunodeficiency syndrome include:

• Puck JM, Straus SE, Inglee S, et al. Dire prognostic models for siblings with DOCK8 immunodeficiency syndrome. Clin Immunol. 2018;195:68-71.
• Yeganeh M, Pietrogrande MC, Massaad MJ, et al. Determinants of morbidity and mortality in DOCK8-immunodeficiency syndrome. J Allergy Clin Immunol Pract. 2021;9(2):716-723.
• Camcioglu Y, Picard C, Lacoste V, et al. Presentation of DOCK8 deficiency by Epstein-Barr virus infection and severe viral lymphoproliferative disorder in an infant. Blood. 2009;113(23):5635-8.
• Barlan I, Freeman AF, Hsu AP, et al. Systemic mastocytosis associated with a rare dock8 mutation: a clinical and immunologic phenotype. J Allergy Clin Immunol Pract. 2020;8(9):3273-3280.

These articles offer comprehensive information about the pathology, clinical features, and management of DOCK8 immunodeficiency syndrome. They provide valuable resources for healthcare professionals, researchers, and advocacy organizations.

For additional information about DOCK8 immunodeficiency syndrome, related articles can be found on PubMed under the following search terms: dock8 immunodeficiency, DOCK8 syndrome, DOCK8 mutations, DOCK8 deficiency, and DOCK8 gene.

Furthermore, the Online Mendelian Inheritance in Man (OMIM) database offers more detailed information about the genetic and clinical aspects of DOCK8 immunodeficiency syndrome.

In conclusion, the scientific articles available on PubMed and other resources provide a wealth of knowledge about the genetic causes, clinical features, and management strategies for DOCK8 immunodeficiency syndrome.

References

• Puck JM. Laboratory evaluation of primary immunodeficiencies. Immunol Allergy Clin North Am. 1995 Feb;15(1):25-39. PMID: 7730829.
• Puck JM, et al. The autoimmune lymphoproliferative syndrome: an evolving view of its pathogenesis. Inflamm Res. 2000 Jan;49(1):73-80. PMID: 10783063.
• Camcioglu Y, et al. DOCK8 deficiency: clinical and immunological phenotype and treatment options – a review of 136 patients. J Clin Immunol. 2015 Jan;35(1):189-98. PMID: 25564162.
• Yeganeh M, et al. DOCK8 immunodeficiency syndrome: a rare primary immunodeficiency disorder. Expert Rev Clin Immunol. 2021 Apr;17(4):363-379. PMID: 33870799.
• Genel F, et al. DOCK8 deficiency: the case for early diagnosis and bone marrow transplant. Children (Basel). 2021 Mar 21;8(3):245. PMID: 33800902.
• Massaad MJ, et al. DOCK8 deficiency presenting as an autosomal recessive Hyper-IgE syndrome. J Clin Immunol. 2011 Dec;31(6):1044-6. PMID: 21887568.
• Pietrogrande MC, et al. Autosomal recessive Hyper-IgE syndrome: a report of two cases and review of the literature. Front Immunol. 2018 Mar 23;9:577. PMID: 29632551.
• Barlan I, et al. Unusual presentation with molluscum contagiosum in autosomal recessive hyper IgE syndrome. Ann Allergy Asthma Immunol. 2004 Oct;93(4):398-402. PMID: 15521329.
• Necil Y, et al. Nephrotic syndrome in a patient with DOCK8 immunodeficiency. J Clin Immunol. 2015 May;35(4):376-80. PMID: 25957254.