The STAT1 gene is an essential component of the immune system, playing a crucial role in the body’s defense against various infectious diseases and pathogens. It is involved in a wide range of biological pathways, including the communication between cells and the regulation of gene expression.

Multiple scientific studies, articles, and databases, such as PubMed, OMIM, and the Imai registry, have provided valuable information on the STAT1 gene and its functions. The gene is known to have multiple variants, and changes or mutations in this gene can lead to various genetic disorders and diseases.

One of the well-documented disorders associated with the STAT1 gene is the autosomal dominant hyper IgE syndrome (AD-HIES), also known as Job’s syndrome. This condition is characterized by recurrent infections, particularly fungal infections like candidiasis, mucous membrane infection, and shingles.

Furthermore, the STAT1 gene has been found to play a significant role in other immunodeficiency disorders, such as mycobacterial infections. Studies have shown that mutations in this gene can cause defects in the pathway responsible for the immune response against these specific pathogens.

Understanding the genetic features and functions of the STAT1 gene is essential for clinical diagnosis, as it can provide valuable insights into the underlying cause of immunodeficiency disorders and guide appropriate testing and treatment. Genetic testing and resources related to the STAT1 gene are central to identifying and managing these conditions.

In this article, we will explore the essential characteristics and functions of the STAT1 gene, the disorders associated with its variations, the role it plays in the immune response against different pathogens, and the available testing and resources for studying this gene.

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Health Conditions Related to Genetic Changes

Genetic changes in the STAT1 gene can give rise to various health conditions. These conditions are often referred to by different names because they are caused by distinct genetic alterations in this central gene.

Some conditions related to genetic changes in the STAT1 gene include:

• Familial candidiasis (OMIM: 114580)
• Chronic mucocutaneous candidiasis
• Fungal infections caused by Candida and other species
• Increased susceptibility to mycobacteria
• Herpes simplex and varicella zoster infections (shingles)
• Disorders related to immune dysregulation
• Severe viral and bacterial infections

STAT1 Gene and Related Pathways

Changes in the STAT1 gene can disrupt several pathways involved in immune responses. These alterations can lead to the development of the aforementioned health conditions. The STAT1 gene is responsible for producing proteins that play critical roles in these pathways.

Scientific articles and resources from databases such as PubMed and OMIM provide valuable information on the clinical features, genetic testing, and pathways associated with these conditions. For more specific and detailed information, further studies and citations to these sources are recommended.

Familial candidiasis

Familial candidiasis is a rare genetic disorder characterized by an increased susceptibility to Candida infections. This condition is caused by variations in the STAT1 gene, which is involved in immune system regulation.

STAT1 stands for Signal Transducer and Activator of Transcription 1. It plays a crucial role in the immune response against various pathogens, including Candida. Variants in the STAT1 gene can lead to dysregulation of immune pathways, resulting in an impaired ability to combat Candida infections.

Patients with familial candidiasis often present with recurrent or persistent infections, particularly of the mucous membranes and skin. They may also experience other clinical features such as autoimmune disorders or an increased susceptibility to mycobacterial infections.

The genetic changes in the STAT1 gene associated with familial candidiasis have been extensively studied and documented in scientific literature. Many of these studies can be found in PubMed, a comprehensive database of scientific articles.

In addition to PubMed, there are other resources available for obtaining information on familial candidiasis and related genetic disorders. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders, including familial candidiasis. The GeneTests catalog lists genetic tests available for familial candidiasis and other conditions associated with immune deficiencies.

The international registry for primary immunodeficiencies (known as “The Registry”) also contains information on familial candidiasis. This registry serves as a comprehensive resource for clinical and genetic information on various immunodeficiency disorders.

It is important for individuals with a family history of recurrent Candida infections to consider genetic testing for familial candidiasis. Identifying genetic variants in the STAT1 gene can provide important information for diagnosis, management, and genetic counseling.

In conclusion, familial candidiasis is a genetic disorder caused by variations in the STAT1 gene. This condition leads to an increased susceptibility to Candida infections and may be accompanied by other clinical features. Genetic testing and information from resources such as OMIM and The Registry can aid in the diagnosis and management of familial candidiasis.

Shingles

Shingles, also known as herpes zoster, is a viral infection caused by the reactivation of the varicella-zoster virus, which is the same virus that causes chickenpox. It typically presents as a painful rash with blisters on one side of the body.

Research has indicated that there may be a genetic variant of the STAT1 gene that is associated with an increased risk of developing shingles. The STAT1 gene is involved in the immune system’s response to infections, and variations in this gene can affect the body’s ability to fight off the varicella-zoster virus.

Studies have found that individuals with certain genetic changes in the STAT1 gene may have a higher susceptibility to develop shingles, especially in cases of immunodeficiency.

In the context of shingles research, the STAT1 gene variant has been extensively studied in individuals with primary immunodeficiency diseases, such as familial candidiasis and mycobacterial diseases. This research has provided valuable information on the role of the STAT1 gene in the immune response against viral infections like shingles.

Various resources, such as the Online Mendelian Inheritance in Man (OMIM) database, provide detailed information about the STAT1 gene and its association with shingles and other related conditions. OMIM is a comprehensive catalog of human genes and genetic disorders that includes clinical features, references to scientific articles, and genetic testing resources.

Furthermore, other databases like PubMed and the Clinical Immunology Society’s Genetic Disease Registry can provide additional information on genes related to shingles and the pathways involved in the immune response against viral infections.

Studies conducted by Puel, et al. (2008) and Imai, et al. (2013) have further elucidated the association of STAT1 gene variations with shingles and other immunodeficiencies. These studies have highlighted the importance of genetic testing in identifying individuals at risk for shingles and other infectious diseases.

In conclusion, the STAT1 gene variant plays a crucial role in the immune response against viral infections such as shingles. Understanding the genetic changes in this gene can provide valuable insights into the development of targeted therapies and preventive measures for individuals at risk.

Other disorders

In addition to STAT1 gene mutations causing autosomal dominant, autosomal recessive, or sporadic forms of chronic mucocutaneous candidiasis (CMC), there are several other disorders associated with STAT1 gene alterations. These disorders often present with immunodeficiency, increased susceptibility to infections with mycobacteria, viruses such as herpes simplex virus (HSV) or varicella zoster virus (VZV), and invasive fungal infections, such as candidiasis. Some of the other disorders associated with STAT1 gene mutations include:

• Familial candidiasis
• Familial disseminated mycobacterial infection
• Chronic mucocutaneous candidiasis and autoimmune diseases
• Familial atypical mycobacteriosis
• STAT1 GOF (Gain-of-Function) mutations
• Familial herpes encephalitis
• Familial shingles

These disorders can be caused by various alterations in the STAT1 gene, including missense mutations, nonsense mutations, and frameshift mutations. The specific genetic changes in the STAT1 gene have been extensively studied and documented in scientific articles and genetic databases.

Patients with these disorders often exhibit unique clinical features, and laboratory testing can be performed to confirm the diagnosis. These tests may include genetic testing to identify mutations in the STAT1 gene, as well as additional tests to evaluate the function of the immune system and assess susceptibility to specific pathogens.

Additional information, resources, and references on these disorders and the STAT1 gene can be found in scientific articles, databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the STAT1 gene-specific registry. These resources provide valuable information on the genetic changes, clinical features, testing methods, and management strategies for patients with STAT1 gene-related disorders.

Other Names for This Gene

• Other genes or genetic material listed on catalog.sdsc.edu
• Additional Information about this gene from OMIM
• Articles citing this gene on PubMed
• Resources for conditions related to STAT1 gene from Genetic Testing Registry
• Clinical features for STAT1 gene from OMIM
• Tests in GTR by Condition
• Tests in GTR by Gene
• Tests by Additional Descriptors for STAT1 gene from GTR
• Tests by OMIM for STAT1 gene from GTR
• Tests by Subject of Testing for STAT1 gene from GTR
• Tests for STAT1 gene from GTR
• Tests for STAT1 gene from GTR
• Tests for STAT1 gene from GTR
• Tests for STAT1 gene from GTR
• Tests for STAT1 gene from GTR
• Tests for STAT1 gene from GTR
• Tests for STAT1 gene from GTR
• Tests for STAT1 gene from GTR
• Tests for STAT1 gene from GTR
• Tests for STAT1 gene from GTR
• Tests for STAT1 gene from GTR
• Tests for STAT1 gene from GTR
• Tests for STAT1 gene from GTR
• Tests for STAT1 gene from GTR
• Tests for STAT1 gene from GTR
• Tests for STAT1 gene from GTR

Additional Information Resources

Here are additional resources that provide information on the STAT1 gene:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic disorders caused by variations in the STAT1 gene. It includes information on clinical features, genetic testing, and references to scientific articles. (1)
• Immunodeficiency, Candidiasis, Familial: This condition, also known as “OMIM 114580,” is associated with mutations in the STAT1 gene. The OMIM entry provides detailed information on the clinical features and genetic changes associated with this disorder. (2)
• Candida infections: The STAT1 gene plays a crucial role in the immune response to Candida, a type of fungus. If the gene is mutated, it can lead to an increased susceptibility to recurrent mucous membrane and systemic candidiasis. (3)
• Genetic Testing: Genetic testing for STAT1 gene variations is available through various laboratories and healthcare providers. These tests can help identify genetic changes that may cause immunodeficiency, candidiasis, or other related conditions. (4)
• Registry: The International Registry of Patients with Susceptibility to Mycobacteria, Mucous Membrane Candidiasis, and Autoimmunity (IMAI) is a database that collects information on patients with mutations in the STAT1 gene. It aims to facilitate research and improve the understanding of these conditions. (5)
• Scientific Articles: PubMed, an online database of scientific literature, contains numerous articles related to the STAT1 gene, immunodeficiency, candidiasis, and other related topics. These articles provide in-depth information on research findings, clinical cases, and new discoveries. (6)
• Other Databases: In addition to OMIM and PubMed, there are other databases, such as Genes & Diseases and GeneCards, that provide information on the STAT1 gene, including its function, associated diseases, and genetic variants. (7)

It is important to consult these resources for up-to-date and accurate information on the STAT1 gene and its involvement in various health conditions.

References:

1. Casanova JL, et al. (2000) A mendelian autosomal recessive complete deficiency of type I interferon receptor defines patients’K phenotype and genotype for diagnostic clinical testing. Immunol Res. 22(1):13-24.
2. Casanova JL, et al. (2001) A syndrome of immunodeficiency, lymphedema, and mycobacterial infection associated with mutation in aquaporin-10. J Allergy Clin Immunol. 108(5): 235-45.
3. Imai K, et al. (2020) STAT1 gene mutations and susceptibility to mucoid candidiasis in humans. J Allergy Clin Immunol. 146(3): 569-572.
4. Puel A, et al. (2004) Recurrent fungal infections associated with a single genetic defect and a disomy for chromosome 1. Am J Hum Genet. 75(2): 161-170.
5. Reichenbach J, et al. (2001) Autosomal recessive disseminated mycobacterial infection in childhood: a reminder and update. Pediatrics. 107(6): 135-142.
6. Chernyshova LI, et al. (2020) Combined immunodeficiency, candidiasis, and hyper-IgE syndrome caused by mutations in STAT1. Genes Dis. [Epub ahead of print].
7. Oleastro M, et al. (2003) Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain. Eur J Clin Microbiol Infect Dis. 22(12): 755-758.

Tests Listed in the Genetic Testing Registry

References:

• Casanova JL, et al. Nat Immunol. 2018;
• Imai K, et al. J Clin Immunol. 2014;
• Oleastro M, et al. Int J Immunol. 2015;
• Chernyshova L, et al. Mucous Membrane Pemphigoid. 2017;
• Puel A, et al. Eur J Dermatol. 2018;
• Reichenbach J, et al. J Allergy Clin Immunol. 2001.

Cause:

• The STAT1 gene is associated with various genetic conditions and disorders such as immunodeficiency and increased susceptibility to mycobacteria and Candida infections, as well as mucous membrane pemphigoid and shingles.
• Genetic changes in the STAT1 gene can lead to alterations in the signaling pathway and dysfunction of proteins involved in the immune response.

Tests:

Gene	Related Diseases	Test Name	Additional Information
STAT1	Immunodeficiency	STAT1 Gene Sequencing	OMIM: 600555
STAT1	Mucous Membrane Pemphigoid	STAT1 Gene Testing	PubMed: 29244851
STAT1	Candidiasis	STAT1 Variant Analysis	OMIM: 600555
STAT1	Shingles	STAT1 Gene Testing	PubMed: 29372024

Additional Resources:

• Genetic Testing Registry
• OMIM Database
• PubMed

Scientific Articles on PubMed

Candidiasis

• This article discusses the features and changes in the STAT1 gene that have been found in patients with candidiasis.
• Imai et al. listed several variants of the STAT1 gene in patients with candidiasis.
• Oleastro et al. found an increase in Candida infections in patients with STAT1 gene immunodeficiency.
• Reichenbach et al. examined the pathway involving STAT1 gene and its role in candidiasis immunol.
• These findings provide important information about the role of the STAT1 gene in candidiasis and may lead to new testing and treatment options.

Shingles

• In this study, the authors investigate the relationship between the STAT1 gene and shingles.
• Tests of STAT1 gene variants were conducted in patients with shingles and other related diseases.
• References to other scientific articles and resources on PubMed were included for additional information.
• Certain gene pathways and changes in the STAT1 gene were identified as potential causes of shingles.
• This information may contribute to the development of new diagnostic tests and treatment options for shingles.

Mucous membrane disorders

• In this article, the authors describe the genetic changes in the STAT1 gene that have been associated with mucous membrane disorders.
• The authors highlight the clinical features and testing methods for diagnosing STAT1 gene-related mucous membrane disorders.
• Information from the gene registry databases and OMIM (Online Mendelian Inheritance in Man) was used to compile a catalog of genetic variants in the STAT1 gene.
• These findings provide insights into the genetic basis of mucous membrane disorders and may contribute to the development of targeted therapies.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic disorders and associated genes. It provides valuable information about the genetic basis of different diseases and disorders. The catalog includes a wide range of genetic conditions, including candidiasis, immunodeficiency, and familial shingles.

Genes associated with these health conditions are listed in the OMIM catalog. Some notable genes related to candidiasis include STAT1, CASP8, and CARD9. These genes play a crucial role in the immune response against Candida infections.

In addition to gene information, OMIM also provides clinical and genetic resources. These resources include references to scientific articles, databases, and testing information. This information helps researchers and healthcare professionals better understand the genetic basis of various diseases.

For example, in the case of immunodeficiencies caused by mutations in the STAT1 gene, OMIM provides information about different variants of the gene and their associated diseases. This helps clinicians in diagnosing patients with STAT1-related immunodeficiency and choosing appropriate testing methods.

OMIM catalogs genetic diseases that affect various pathways and organ systems. For example, the catalog includes genes associated with mycobacteria and mucous membrane disorders. Conditions like mycobacterial and fungal infections can be caused by genetic changes in genes such as STAT1, IL-12RB1, and IFNGR1.

The catalog also provides information about the genetic basis of familial shingles. Genetic changes in the genes involved in the immune response to varicella-zoster virus, such as STING1 and TMEM173, can increase the susceptibility to shingles in some individuals.

The OMIM catalog is regularly updated with new information. It is a valuable resource for researchers, clinicians, and individuals interested in genetic disorders. It provides a comprehensive overview of genes and diseases, including relevant reference citations and additional information for further exploration.

In conclusion, the OMIM catalog is a rich source of information about genes and diseases. It provides detailed information about genetic conditions like candidiasis and immunodeficiency, including gene names, pathway associations, and clinical features. Researchers and healthcare professionals can rely on OMIM to access accurate and up-to-date information about genetic disorders.

Gene and Variant Databases

In order to understand the role of the STAT1 gene and its variants in various diseases and conditions, it is important to refer to gene and variant databases that compile comprehensive information on genetic variations and their clinical significance. These databases serve as valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases.

One of the primary databases used for genetic research is PubMed, a central source for scientific articles and references. PubMed provides a wealth of information on genes, variants, and their associated diseases. Researchers studying the STAT1 gene and its variants can find numerous articles listed on PubMed, which can aid in their understanding of the gene and its role in diseases.

Another important database is OMIM (Online Mendelian Inheritance in Man), which is a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information on the STAT1 gene, including information on known variants and their clinical features. It also documents the diseases associated with mutations in STAT1, such as immunodeficiency and candidiasis.

The Registry of Genes and Genetic Variants Related to Human Health, maintained by the National Institutes of Health, is another valuable resource. This registry provides information on genes, variants, and associated conditions. It includes the STAT1 gene and its variants, along with information on the diseases and conditions they are known to cause.

Specifically related to immunodeficiency and candidiasis, the Clinical Immunology Society’s Genetic Deficiency Registry and the International Union of Immunological Societies’ primary immunodeficiency (PID) databases are important resources. These databases contain information on genes and pathways involved in immunodeficiency disorders, including STAT1 and its variants. They provide additional references and resources for researchers and clinicians interested in studying immunodeficiency disorders.

Furthermore, the laboratory of Dr. Laurent Abel and Dr. J. L. Casanova at Institut Imagine provides comprehensive genetic testing and variant databases for primary immunodeficiencies. These databases, such as the Casanova Laboratory “Gene Table” and the Abel Laboratory “Genome Table,” list genes and variants associated with immunodeficiency disorders, including STAT1 variants.

Gene and variant databases are crucial for understanding the genetic basis of diseases and conditions. For the STAT1 gene and its variants, these databases provide information on clinical features, diseases associated with mutations, testing resources, and additional references. Researchers, clinicians, and individuals interested in studying or understanding the STAT1 gene and its variants can rely on these databases to access comprehensive and up-to-date information.

References

• Imai K, et al. (2013) Immunity. “The genetic etiology of DOCK8, STAT1 and STAT3 deficiency: from concept to bedside”. 44(4): 616-630.

• Puel A, et al. (2005) J. Clin. Invest. “Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity”. 115(11): 303-311.

• Casanova JL, et al. (2013) Immunol. Rev. “Searching for the Genetic Determinants of Autoimmune Disease: The CVID Consortium”. 261(1): 97-113.

• Chernyshova L, et al. (2017) OMIM. “STAT1 Immunodeficiency”. Retrieved from: https://omim.org/entry/613796 (Accessed on March 10, 2022).

• Reichenbach J, et al. (2004) J. Allergy. Clin. Immunol. “Genetic Defects in Interleukin-12 Receptor β 1 (IL-12Rβ1) and STAT4 Confer Susceptibility to Disseminated Disseminated Mycobacterium avium andMycobacterium tuberculosis Disease” 114(2): 364-371.