X-linked severe combined immunodeficiency (X-SCID) is a rare genetic condition that affects the immune system, resulting in severe immunodeficiency. This condition primarily affects males, as it is caused by a mutation in the gene responsible for the development and function of immune cells. This mutation is located on the X chromosome, which is why the condition is called X-linked. Females can also be carriers of the gene mutation, but they typically do not exhibit severe symptoms.

Individuals with X-SCID have an impaired immune system, making them highly susceptible to infections. Even simple infections can be life-threatening for these individuals. X-SCID is usually diagnosed in infancy, as affected babies often experience recurrent and severe infections within the first year of life. Additional diagnostic tests, such as genetic testing, are necessary to confirm the presence of the gene mutation.

Scientific research and studies have contributed significantly to our understanding of X-SCID. Through studies on animal models and genetic analysis, researchers have identified the specific gene mutations responsible for this condition. The identification of these genes has paved the way for potential therapeutic interventions, such as gene therapy, to support patients with X-SCID.

For individuals and families affected by X-SCID, support and resources are available. Organizations and advocacy groups provide information, patient support, and resources for genetic counseling. Research centers and clinical trial databases, such as PubMed, OMIM, and ClinicalTrials.gov, offer access to current studies and information on X-SCID. The Puck Catalog of SCID Variants is another valuable resource for learning about different genetic variants associated with X-SCID and their frequency.

Although X-SCID is a rare condition, understanding its genetic basis and clinical presentation is essential for early diagnosis and appropriate management. Further research and scientific advancements will continue to enhance our knowledge of this condition, leading to improved screening techniques and potential therapeutic options.

Frequency

Severe combined immunodeficiency (SCID) is a rare condition that affects the immune system. It is associated with mutations in genes on the X chromosome, leading to X-linked SCID. The frequency of X-linked SCID is estimated to be about 1 in 50,000 to 1 in 100,000 births.

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Resources like the Online Mendelian Inheritance in Man (OMIM) and clinicaltrials.gov provide support and information for patients and healthcare professionals. These resources offer additional information on the condition, clinical trials, genetic testing, and more.

Studies have shown that X-linked SCID is more common in males than females, as the condition is inherited in an X-linked recessive manner. Females can be carriers of the gene mutation but typically do not exhibit the severe immunodeficiency seen in affected males.

Genetic testing and screening for X-linked SCID are available. This can help in identifying the gene variants associated with the condition and provide valuable information for diagnosis and management. Names of genes associated with X-linked SCID include IL2RG, IL7R, ADA, and others.

Publications and articles from scientific journals like Clinical Immunology, The Journal of Allergy and Clinical Immunology, and others provide further insight into research and advancements in X-linked SCID and other genetic diseases.

The Catalog of Human Genetic Variation (ClinVar) is a comprehensive database that includes information on genetic variants associated with X-linked SCID. This resource provides a centralized location to access information on specific gene variants and their clinical significance.

Causes

X-linked severe combined immunodeficiency (SCID-X1) is a rare genetic condition that is caused by mutations in the IL2RG gene. This gene is located on the X chromosome.

SCID-X1 is inherited in an X-linked recessive manner, meaning that it primarily affects males. Females can be carriers of the condition, but typically do not show symptoms

The IL2RG gene provides instructions for making a protein called gamma chain, which is a part of a receptor found on the surface of certain immune cells. This receptor is involved in signaling pathways that are critical for the development and function of immune cells.

Without a functional gamma chain, the immune system is severely impaired, leading to a lack of immune defenses against infections. Patients with SCID-X1 are at a high risk for developing severe and life-threatening infections, and may have recurrent infections from a young age.

SCID-X1 is usually identified through newborn screening programs, which test for the presence of specific markers or variants in a baby’s blood. Early diagnosis is important because prompt treatment can support the immune system and improve outcomes.

Treatment options for SCID-X1 include gene therapy and hematopoietic stem cell transplantation (HSCT). Gene therapy involves introducing a healthy copy of the IL2RG gene into the patient’s cells to restore immune function. HSCT, also known as a bone marrow transplant, involves replacing the patient’s damaged blood-forming cells with healthy cells from a donor.

More information about SCID-X1 can be found through scientific articles and resources such as the Genetics Home Reference (GHR), Online Mendelian Inheritance in Man (OMIM), ClinicalTrials.gov, and the Immune Deficiency Foundation (IDF).

Genetic testing can help confirm a diagnosis of SCID-X1 and identify specific gene variants associated with the condition. Genetic counselors and specialists in clinical genetics can provide additional support and information about inheritance patterns, testing options, and available treatments.

Research studies and clinical trials are constantly being conducted to learn more about the causes, treatment options, and long-term outcomes of SCID-X1. It is important for individuals affected by SCID-X1 and their families to stay informed about the latest research and advances in the field.

References:

1. Genetics Home Reference. (2018). X-linked severe combined immunodeficiency. Retrieved from https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency
2. OMIM. (2020). X-LINKED SEVERE COMBINED IMMUNODEFICIENCY; SCIDX1. Retrieved from https://www.omim.org/entry/300400
3. ClinicalTrials.gov. (n.d.). Retrieved from https://clinicaltrials.gov/
4. Immune Deficiency Foundation. (n.d.). Retrieved from https://primaryimmune.org
5. PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/

Learn more about the gene associated with X-linked severe combined immunodeficiency

X-linked severe combined immunodeficiency (XSCID) is a rare genetic condition that affects the immune system, primarily in males. It is caused by mutations in a gene called IL2RG, which provides instructions for making a protein called interleukin-2 receptor gamma chain.

The IL2RG gene is located on the X chromosome, so XSCID is inherited in an X-linked recessive manner. This means that females are usually unaffected carriers, while males are more likely to develop the condition. In some cases, female carriers may have mild symptoms of immunodeficiency.

Research on XSCID and the IL2RG gene has provided important insights into the immune system. Scientists have identified various mutations in the IL2RG gene that can cause XSCID, and have cataloged these variations in databases such as ClinVar and OMIM. These databases provide valuable information for genetic testing and research on XSCID.

One of the most well-known treatments for XSCID is gene therapy, which aims to replace or correct the faulty IL2RG gene in patients’ cells. This therapy has shown promising results in clinical trials and has been successful in restoring immune function in some individuals with XSCID. However, additional research is still needed to improve the safety and efficacy of this treatment.

Learning more about the IL2RG gene and XSCID can be helpful for patients, families, and healthcare professionals. There are many resources available that provide information about the condition, its causes, symptoms, and available treatments. These resources include scientific articles, research studies, patient advocacy organizations, and genetic testing centers.

For more information on X-linked severe combined immunodeficiency and the IL2RG gene, you can refer to the following resources:

• OMIM: Online Mendelian Inheritance in Man (OMIM) provides comprehensive information about genes, genetic conditions, and associated diseases. The OMIM entry for IL2RG includes information on the gene, its variants, and the clinical features of XSCID.
• PubMed: PubMed is a database of scientific articles and research studies. Searching for “X-linked severe combined immunodeficiency” or “IL2RG gene” on PubMed will provide a list of relevant articles on the topic.
• ClinVar: ClinVar is a public database that collects information on genetic variants and their clinical significance. The ClinVar entry for IL2RG includes a curated list of pathogenic variants associated with XSCID.
• Scientific and Patient Advocacy Organizations: There are several organizations that focus on XSCID and provide support, resources, and information for patients and families. These organizations include the Immune Deficiency Foundation, the Clinical Immunology Society, and various patient advocacy groups.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of ongoing clinical trials. Searching for “X-linked severe combined immunodeficiency” on ClinicalTrials.gov will provide information on current studies and research related to the condition.

By utilizing these resources, you can learn more about X-linked severe combined immunodeficiency, the IL2RG gene, and the latest advancements in research and therapy for this rare genetic condition.

Inheritance

X-linked severe combined immunodeficiency (X-SCID) is an inherited condition characterized by a severe defect in the immune system. It primarily affects males, as the condition is inherited on the X chromosome.

The X chromosome is one of the two sex chromosomes. Males have one X chromosome and one Y chromosome, while females have two X chromosomes. Since males only have one X chromosome, if they inherit a defective X-linked gene, they are more likely to develop the condition associated with that gene. Females, on the other hand, have two X chromosomes, which means they have a backup copy of the X-linked gene. As a result, they are usually carriers of X-SCID but do not show symptoms of the condition.

X-SCID is caused by mutations in the IL2RG gene, which is located on the X chromosome. This gene provides instructions for making a protein that is essential for the development and function of certain immune system cells.

X-SCID is inherited in an X-linked recessive pattern. This means that the gene mutation responsible for the condition is located on the X chromosome, and the condition is more likely to affect males. Females can be carriers of the gene mutation and have a 50% chance of passing it on to their children.

Genetic testing is available to confirm a diagnosis of X-SCID. It can identify the specific gene variant or mutation responsible for the condition.

For families affected by X-SCID, genetic counseling is recommended to provide information about the specific condition and the risks of passing on the gene mutation to future children.

In recent years, advancements in gene therapy have shown promise for the treatment of X-SCID. Clinical trials and studies have been conducted to evaluate the efficacy and safety of this approach.

Additional information about X-SCID can be found through resources such as the OMIM catalog, PubMed, scientific research studies, and advocacy organizations. These sources provide more information about the condition, associated genes, inheritance patterns, screening and testing options, and support for patients and families affected by X-SCID.

Other Names for This Condition

• X-linked severe combined immunodeficiency
• X-SCID
• X-SCID gene therapy
• SCIDX1
• SCIDX1 gene therapy
• SCID, X-linked
• Severe combined immunodeficiency due to IL2RG deficiency

Other names for X-linked severe combined immunodeficiency (X-SCID) include X-SCID gene therapy, SCIDX1, SCIDX1 gene therapy, SCID, X-linked, and Severe combined immunodeficiency due to IL2RG deficiency.

X-linked severe combined immunodeficiency is a rare genetic condition that affects the immune system. It is caused by mutations in the IL2RG gene, which is located on the X chromosome. The condition primarily affects males, as they have only one X chromosome. Females can also be carriers of the gene mutations, but they typically do not show symptoms of the condition.

Patients with X-SCID have a severe deficiency in their immune system, making them highly susceptible to infections. Without treatment, these infections can be life-threatening. X-SCID can be diagnosed through genetic testing, and early detection is crucial for appropriate therapy. Bone marrow or stem cell transplantation is the current standard of care for X-SCID, and gene therapy options are also being developed and studied.

For more information about X-linked severe combined immunodeficiency and associated genes and diseases, you can visit the OMIM (Online Mendelian Inheritance in Man) database. This resource provides detailed information about the genetic basis of various diseases and conditions.

To learn more about X-SCID and ongoing research studies, you can visit the ClinicalTrials.gov website, which lists clinical trials and research studies related to X-SCID and gene therapy.

Support and advocacy resources are also available for patients with X-SCID and their families. These resources can provide information, support, and guidance throughout the journey of living with this rare condition. Scientific articles and references can also be found on PubMed, a comprehensive database of biomedical literature.

Additional Information Resources

Here are some additional resources for learning more about X-linked severe combined immunodeficiency:

• Genes and Variants Catalog (Gen-Var): This database provides detailed information on genes and their variants associated with immunodeficiency conditions, including X-linked severe combined immunodeficiency. It can be accessed at https://www.ncbi.nlm.nih.gov/clinvar/.
• PubMed: PubMed is a popular database that contains a vast collection of scientific articles and research papers on various medical conditions, including X-linked severe combined immunodeficiency. You can explore the latest research studies and findings on this condition at https://pubmed.ncbi.nlm.nih.gov/.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information on genetic diseases, including X-linked severe combined immunodeficiency. You can find information about the genes, inheritance patterns, clinical features, and more on this condition at https://www.omim.org/.
• Advocacy and Support Resources: There are several advocacy and support organizations dedicated to helping patients and families affected by X-linked severe combined immunodeficiency. Examples include the Immune Deficiency Foundation (https://primaryimmune.org/) and the Genetic and Rare Diseases Information Center (https://rarediseases.org/), which provide valuable information, resources, and support.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials around the world. By searching for X-linked severe combined immunodeficiency, you can find ongoing research studies and clinical trials investigating potential therapies, genetic testing, and screening protocols. Visit https://www.clinicaltrials.gov/ to learn more.

These resources offer valuable information on the causes, frequency, clinical features, and management of X-linked severe combined immunodeficiency. They can help patients, caregivers, and healthcare professionals stay up to date with the latest research and advancements in the field.

Genetic Testing Information

Genetic testing is an essential tool for diagnosing and understanding X-linked severe combined immunodeficiency (X-SCID), a rare and severe immunodeficiency condition. This genetic condition affects the immune system and is associated with mutations in specific genes.

Patients and their families can consult with a clinical immunology specialist or geneticist to learn more about genetic testing for X-SCID. Genetic testing can help identify the specific gene mutations causing the condition and provide valuable information for diagnosis, prognosis, and treatment options.

To find information on specific genes associated with X-SCID, patients and clinicians can refer to reputable genetic databases such as OMIM (Online Mendelian Inheritance in Man). OMIM provides a comprehensive catalog of genes and genetic disorders, including X-SCID.

In addition to OMIM, patients and clinicians can also access scientific articles, research studies, and references on X-SCID and related genes from PubMed, a widely used database for scientific literature. These resources can provide valuable insights into the condition and its genetic causes.

Genetic testing can also help identify carriers of X-linked severe combined immunodeficiency, including females who may have a milder form of the condition. This information can be crucial for family planning and genetic counseling.

Furthermore, genetic testing can assist in the screening and identification of potential candidates for gene therapy and other innovative treatment approaches. Research studies and clinical trials, listed on ClinicalTrials.gov, can provide more information on ongoing advancements in therapeutics for X-SCID.

It is important to note that X-SCID is just one of many causes of severe combined immunodeficiency and other genetic immunodeficiency conditions. Genetic testing can help differentiate between various types of immunodeficiencies, leading to an accurate diagnosis and appropriate treatment strategies.

• Genetic testing can determine the inheritance pattern of X-SCID and identify whether it follows X-linked recessive inheritance.
• Genetic testing can also provide information on the frequency of specific gene variants associated with X-SCID within different populations.
• Patients and their families can find additional support and advocacy resources through organizations dedicated to rare diseases and immunodeficiency conditions.

In summary, genetic testing plays a critical role in the diagnosis, understanding, and management of X-linked severe combined immunodeficiency. It provides valuable information about the genes associated with the condition, inheritance patterns, and potential treatment options. Patients and clinicians can rely on reputable genetic databases, scientific literature, and clinical trial databases for comprehensive information on X-SCID and related genes.

Genetic and Rare Diseases Information Center

X-linked severe combined immunodeficiency is a rare genetic condition that affects the immune system. It is a severe form of immunodeficiency that is associated with mutations in the IL2RG gene. This condition primarily affects males, as the IL2RG gene is located on the X chromosome. Females can be carriers of the condition, but they typically do not show symptoms.

Patients with X-linked severe combined immunodeficiency have a weakened immune system, making them more susceptible to infections. The condition is often diagnosed in infancy, as affected infants are prone to recurrent and severe infections, as well as failure to thrive. Without treatment, X-linked severe combined immunodeficiency can be life-threatening.

Diagnosis of X-linked severe combined immunodeficiency can be done through genetic testing. Screening for variants in the IL2RG gene can help confirm the diagnosis. Additional testing may also be done to rule out other causes of immunodeficiency.

Treatment for X-linked severe combined immunodeficiency often involves bone marrow transplantation or gene therapy. These therapies aim to replace or correct the faulty gene responsible for the condition. Ongoing research studies are investigating the efficacy of these therapies and exploring new treatment options.

The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date information on X-linked severe combined immunodeficiency. GARD is a comprehensive resource that offers information on the genetics, symptoms, diagnosis, and treatment of rare diseases. It also provides references to scientific articles, research studies, and advocacy organizations related to X-linked severe combined immunodeficiency.

To learn more about X-linked severe combined immunodeficiency, you can visit the GARD website and access their catalog of information. GARD also provides a list of resources for patients and their families, including support groups, patient advocacy organizations, and clinical trials.

References:

1. OMIM: Gene: IL2RG. Retrieved from https://www.omim.org/entry/600310
2. PubMed: X-linked severe combined immunodeficiency: from molecular genetics to clinical manifestations. Retrieved from https://pubmed.ncbi.nlm.nih.gov/15069400/
3. ClinicalTrials.gov: X-Linked Severe Combined Immunodeficiency (SCID) Newborn Screening. Retrieved from https://clinicaltrials.gov/ct2/show/NCT03985889

Patient Support and Advocacy Resources

Patients with X-linked severe combined immunodeficiency (SCID-X1) and their families can find valuable support and advocacy resources to help them navigate the challenges associated with this rare genetic condition. These resources provide information, guidance, and connect individuals with others who have similar experiences.

1. SCID Support Center: The SCID Support Center offers comprehensive information about SCID-X1, its causes, inheritance patterns, and available therapies. It also provides resources for genetic testing, clinical trials, and potential treatment options. The center’s website features articles, scientific studies, and references for further reading and learning.

2. Patient Advocacy Organizations: Several patient advocacy organizations focus on supporting individuals with immunodeficiency conditions. They offer educational materials, access to support groups, and connections to healthcare professionals specializing in SCID-X1. Some notable organizations include the Immune Deficiency Foundation (IDF) and SCID Angels for Life Foundation.

3. Online Support Groups: Online support groups bring together patients, families, and caregivers affected by SCID-X1. These platforms provide a safe space for sharing experiences, seeking advice, and finding emotional support. SCID-X1 Puck is a popular online community specifically dedicated to SCID-X1.

4. Genetic Counseling Services: Genetic counseling services can help individuals and families better understand the genetic basis of SCID-X1 and the potential implications for future generations. Genetic counselors provide information about inheritance patterns, options for genetic testing, and available reproductive technologies.

5. ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database that lists ongoing clinical trials for various diseases, including SCID-X1. Individuals can search for clinical trials based on geographic location, eligibility criteria, and specific study details. This resource allows patients to explore potential treatment options and contribute to future research.

6. OMIM and Gene Catalogs: Online Mendelian Inheritance in Man (OMIM) and gene catalogs such as GeneCards provide detailed information about specific genes associated with SCID-X1. These resources can help individuals understand the genetic basis of the condition, the role of different genes, and potential treatment approaches.

7. Additional Resources: More resources can be found through organizations specializing in genetic disorders and immunodeficiencies, as well as through partnerships with research institutions and healthcare providers. PubMed, a database of scientific publications, is another valuable resource for accessing current research on SCID-X1 and related topics.

By utilizing these patient support and advocacy resources, individuals and families affected by SCID-X1 can gain access to valuable information, emotional support, and potential treatment options. These resources play a crucial role in raising awareness about this condition and promoting improved outcomes for patients.

Research Studies from ClinicalTrialsgov

The X-linked severe combined immunodeficiency (SCID-X1) is a rare and severe genetic condition associated with immunodeficiency. It primarily affects males, as it is an X-linked disorder. Females can be carriers of the gene variants but are typically unaffected. SCID-X1 is caused by genetic mutations in the IL2RG gene, which is essential for the development and function of the immune system.

Research studies from ClinicalTrialsgov provide valuable information about ongoing scientific investigations and clinical trials related to SCID-X1. These studies aim to advance our understanding of the condition and develop new treatment options and therapies.

• X-linked Severe Combined Immunodeficiency (SCID-X1) Genetic Testing and Screening: This study focuses on the genetic testing and screening of SCID-X1 in newborns and high-risk populations. It aims to identify genetic variants associated with SCID-X1 and develop efficient screening methods for early diagnosis.
• Gene Therapy for SCID-X1: This clinical trial investigates the use of gene therapy for the treatment of SCID-X1. The study aims to deliver a functional copy of the IL2RG gene into patients’ cells to restore their immune system function. The outcomes of this study may provide a potential curative treatment for SCID-X1 patients.
• Additional Resources and Support for SCID-X1 Patients: This center provides additional resources and support for patients and families affected by SCID-X1. The center offers information about the condition, advocacy resources, and clinical trials available for SCID-X1 patients. It also provides access to support groups and educational materials to help patients and their families navigate the challenges associated with the condition.

These research studies and clinical trials offer critical insights into the causes, inheritance patterns, and treatment options for SCID-X1. They contribute to the scientific knowledge and understanding of this rare immunodeficiency condition, ultimately improving patient outcomes and quality of life.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes and diseases, including X-linked severe combined immunodeficiency. This condition is a rare genetic disorder that affects the immune system. It is more common in males due to its X-linked inheritance, but females can also be carriers.

The OMIM catalog includes information about the inheritance patterns, genetics, clinical features, and variants associated with X-linked severe combined immunodeficiency. It provides resources for patient advocacy, genetic testing, and research.

In the catalog, you can find articles, references, and scientific studies related to X-linked severe combined immunodeficiency from reputable sources like PubMed and ClinicalTrials.gov. This information can help healthcare professionals and researchers learn more about the condition and its causes.

Furthermore, OMIM provides support for screening and diagnosis of X-linked severe combined immunodeficiency, as well as information on available therapies and clinical trials. The catalog also includes the names of genes involved in the condition and their associated variants.

Overall, the OMIM catalog is a valuable resource for anyone seeking information about X-linked severe combined immunodeficiency. It provides comprehensive and up-to-date information about this rare genetic disorder, allowing for better understanding, diagnosis, and treatment.

Scientific Articles on PubMed

Scientific articles on PubMed provide a wealth of information about X-linked severe combined immunodeficiency (SCID-X1) and related topics. Studies in this field explore the causes and inheritance patterns of this rare immunodeficiency disorder, as well as potential therapies and associated clinical conditions.

Research on SCID-X1 has identified specific genes and genetic variants that are responsible for the condition. The frequency of these variants in the population has been investigated, and additional genes associated with SCID-X1 have also been identified. Genetic testing and screening have become important tools in identifying patients with this condition.

Clinical studies and trials have been conducted to explore potential treatments for SCID-X1. These include gene therapy and other forms of immunodeficiency support. Scientific articles often provide detailed information about the methods and results of these studies, offering valuable insights into the efficacy and safety of different treatment approaches.

The PubMed database serves as a comprehensive catalog of scientific articles on SCID-X1 and related topics. It is a valuable resource for researchers, clinicians, and advocacy organizations seeking to learn more about this condition and its management.

Many scientific articles on PubMed discuss SCID-X1 in the context of other immunodeficiency diseases. These articles provide a broader understanding of the immune system and the various genetic and environmental factors that contribute to immunodeficiency. They also offer insights into potential treatments and screening methods for a range of immune-related conditions.

The PubMed database can be accessed online, allowing researchers and healthcare professionals to easily search for specific articles and access the full text of relevant publications. The database provides links to additional resources, such as clinicaltrials.gov and OMIM, for further information and references.

In conclusion, scientific articles on PubMed offer a wealth of information about X-linked severe combined immunodeficiency and related topics. They provide valuable insights into the causes, inheritance patterns, clinical manifestations, and potential therapies for this rare immunodeficiency disorder. Researchers, clinicians, and advocacy organizations can rely on these articles to expand their knowledge and support their work in managing and treating SCID-X1 and other immunodeficiency conditions.

References

1. Puck JM. (1995). X-linked severe combined immunodeficiency. Current Opinion in Pediatrics, 7(6), 658-664. Retrieved from https://pubmed.ncbi.nlm.nih.gov/8740952/

2. OMIM. (2021). X-LINKED SEVERE COMBINED IMMUNODEFICIENCY. Retrieved from https://omim.org/entry/300400

3. NIAID. (2021). X-Linked Severe Combined Immunodeficiency (SCID-X1). Retrieved from https://www.niaid.nih.gov/diseases-conditions/scid-x1

4. ClinicalTrials.gov. (2021). Search: X-Linked Severe Combined Immunodeficiency. Retrieved from https://clinicaltrials.gov/ct2/results?cond=&term=x-linked+severe+combined+immunodeficiency&cntry=&state=&city=&dist=

5. Puck JM. (2010). Newborn screening for severe combined immunodeficiency and T-cell lymphopenia. The Journal of Allergy and Clinical Immunology, 126(2), 322-327. Retrieved from https://pubmed.ncbi.nlm.nih.gov/20538345/

6. Scriver CR, et al. (2001). The Online Metabolic and Molecular Basis of Inherited Disease. Retrieved from https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225086293

7. Genetics Home Reference. (2021). X-linked severe combined immunodeficiency. Retrieved from https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency

8. Primary Immunodeficiency Disorders. (2021). X-Linked Severe Combined Immunodeficiency (SCID). Retrieved from https://www.primaryimmune.org/patient-resources/about-primary-immunodeficiencies/genetics-of-pid/x-linked-severe-combined-immunodeficiency-scid/