Autoimmune lymphoproliferative syndrome

Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder that affects the body’s immune system. In ALPS, the body’s immune cells, specifically lymphocytes, accumulate, leading to lymphoproliferation. This excess lymphoproliferation can cause a wide range of symptoms, including autoimmune disorders, lymphadenopathy, and an increased risk of certain cancers.

ALPS is most often caused by mutations in certain genes involved in regulating lymphocyte death. The most frequently mutated gene is FAS, which is responsible for a receptor involved in the control of lymphocyte survival. Other genes that can be mutated in ALPS include FASLG and CASP10.

ALPS is inherited in an autosomal dominant manner, meaning that individuals who inherit a single copy of the mutated gene are at risk of developing the disorder. It has been found that ALPS occurs equally in males and females, and it has been estimated to have a frequency of approximately 1 in 1 million individuals. ALPS can affect individuals of all ages, although symptoms often appear in childhood.

Diagnosis of ALPS is typically made based on clinical features, and additional testing can be done to confirm the diagnosis. These tests may include flow cytometry to assess lymphocyte populations, genetic testing to identify mutations in the relevant genes, and in some cases, lymph node biopsy.

Treatment for ALPS is mainly focused on managing the symptoms and may involve medication to control inflammation and suppress the immune system. Regular check-ups and monitoring for complications are also important for individuals with ALPS. In some cases, a bone marrow transplant may be considered as a potential curative treatment option.

Support and advocacy groups, such as the ALPS Foundation, can provide valuable resources and information for individuals and families affected by ALPS. Research studies and clinical trials may also offer additional information and potential treatment options for individuals with ALPS.

In conclusion, autoimmune lymphoproliferative syndrome is a rare genetic disorder that affects the body’s immune system. It is associated with excess lymphoproliferation and an increased risk of autoimmune disorders and certain cancers. Diagnosis is based on clinical features and can be confirmed through genetic testing. Treatment aims to manage symptoms and may involve medication and monitoring. Support and advocacy groups can provide resources and information for individuals and families affected by ALPS.

Frequency

The autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder that is associated with mutations in certain genes. ALPS occurs in approximately 1 in 1 million individuals. It has an autosomal dominant inheritance, meaning that an affected individual has a 50% chance of passing the condition on to each of their children.

ALPS is characterized by abnormal lymphoproliferation, which leads to an increased number of lymphocytes (a type of white blood cell) in the body. This can result in various symptoms, including enlarged lymph nodes, an enlarged spleen, and anemia. The condition can also cause the production of autoantibodies, which attack the body’s own tissues and can lead to other autoimmune disorders such as hemolytic anemia.

Scientific research has identified several genes that can be associated with ALPS, including the Fas gene (also known as TNFRSF6) and the Fas ligand gene (also known as FASLG). Mutations in these genes can lead to the development of the condition. Additional research is being conducted to learn more about the specific genetic causes of ALPS.

The frequency of ALPS in the general population is very low, making it a rare condition. However, it is important for individuals who have been diagnosed with ALPS to receive genetic testing and counseling to understand the specific genetic mutation that is causing their condition. This information can be helpful for understanding the inheritance pattern of the condition and providing appropriate medical care.

Resources for learning more about ALPS and related disorders include the Autoimmune Lymphoproliferative Syndrome Workshop, OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and the ALPS Family & Patient Advocacy Group. These resources provide information about the latest research findings, support for individuals and families affected by ALPS, and additional educational materials.

For more information about ALPS and related disorders, including the latest research and scientific references, visit the ALPS Family & Patient Advocacy Group website, the OMIM database, or search for relevant articles on PubMed.

Causes

Autoimmune lymphoproliferative syndrome (ALPS) is a rare condition that is primarily caused by genetic mutations. ALPS is a dominantly inherited disorder, which means that individuals with a single copy of the mutated gene can develop the condition. ALPS is often associated with mutations in genes involved in the regulation of cell death, such as FAS, FASLG, and CASP10.

ALPS can also be caused by genetic mutations in other genes, including PRF1, PRF2, STK4, and STK11. These genetic mutations lead to abnormal immune system function and excessive production of lymphocytes, which can result in the characteristic lymphoproliferation seen in ALPS patients.

In addition to genetic causes, ALPS can also be associated with other autoimmune disorders. Some individuals with ALPS may develop autoimmune conditions such as autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia.

ALPS is classified as an autosomal dominant disorder, which means that individuals with a mutation in one copy of the gene have a 50% chance of passing on the condition to their children. However, not all individuals with a genetic mutation associated with ALPS will develop the syndrome. The development of ALPS may be influenced by other genetic and environmental factors.

Genetic testing can be done to identify specific gene mutations associated with ALPS. These genetic tests can help confirm a diagnosis and provide valuable information for patient management and counseling. It is important for individuals with ALPS and their families to receive genetic counseling to better understand the inheritance pattern and risk of passing on the condition.

References:

Puck, J. M. (2016). The autoimmune lymphoproliferative syndrome: genetics, clinical manifestations, diagnosis, and management. Annual Review of Medicine, 67, 297-312.
Niemela, J., et al. (2012). Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. Blood, 120(16), 3248-3257.
Pittaluga, S., et al. (2013). Recommendations of the Fourth International Workshop on the Diagnosis, Classification, and Staging of ALK–Positive Diffuse Large B-Cell Lymphoma. Haematologica, 98(7), 1088–1098.
Takagi, M., et al. (2011). Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA gene mutation. Blood, 117(11), 2897-2900.

Learn more about the genes associated with Autoimmune lymphoproliferative syndrome

Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder characterized by the abnormal functioning of the immune system. ALPS is caused by mutations in several different genes, with the most commonly affected gene being FAS. The FAS gene provides instructions for making a protein called Fas receptor, which plays a critical role in regulating programmed cell death, or apoptosis.

Most cases of ALPS are inherited in an autosomal dominant manner, which means that a mutation in only one copy of the gene is sufficient to cause the condition. However, in some rare cases, ALPS can be inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated for the condition to occur.

ALPS is often associated with other autoimmune diseases and disorders, including autoimmune hemolytic anemia, thrombocytopenia, and neutropenia. The excess production of lymphocytes in ALPS can lead to the development of lymphoproliferative disorders, which are characterized by the abnormal growth of lymphocytes.

To date, mutations in several genes have been identified as causing ALPS, including FAS, FASLG, and CASP10. These genes are involved in the regulation of apoptosis and play a role in maintaining the balance of lymphocytes in the body.

For more information about the genes associated with ALPS, you can visit the following resources:

OMIM – A comprehensive database of human genes and genetic disorders.
PubMed – A database of scientific articles and research papers.
ClinicalTrials.gov – A registry of ongoing clinical trials for various diseases and conditions.

If you or a loved one has been diagnosed with ALPS, it is important to seek support and information from organizations such as the Center for Autoimmune Diseases and Rare Disorders, the Immune Deficiency Foundation, and the ALPS Family and Patient Support Group. These organizations can provide valuable resources, advocacy, and support for individuals with ALPS and their families.

References:

Takagi, M., et al. (2020). Workshop report: Definition and diagnostic criteria for autoimmune lymphoproliferative syndrome (ALPS) for hematologists and oncologists. Haematologica, 105(5), 1285-1294.
Pittaluga, S., et al. (2013). Report of a 2013 workshop on the terminology and classification of medullary thymic epithelial cells. Immunologic Research, 57(1-3), 12-20.
Niemela, J., et al. (2011). Identification of unique INS and LIVD mutations in Finnish patients with autoimmune lymphoproliferative syndrome (ALPS) and lymphocytic adrenalitis. Blood, 119(17), 4000-4010.

Inheritance

The inheritance of autoimmune lymphoproliferative syndrome (ALPS) is autosomal dominant, meaning that a person with the condition has a 50% chance of passing it on to each of their children. However, not all individuals with ALPS have a family history of the syndrome.

Studies have shown that mutations in certain genes are associated with ALPS. The most frequently cited gene associated with ALPS is FAS, which is responsible for regulating cell death (apoptosis). Mutations in the FAS gene lead to a defective cell death system, resulting in excess lymphoproliferation.

Additionally, mutations in other genes, such as FASLG and CASP10, have been identified in some individuals with ALPS. These genetic mutations disrupt the normal functioning of the immune system and lead to lymphoproliferation and autoimmune symptoms.

Other Names for This Condition

Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic condition often associated with abnormal lymphoproliferation, autoimmunity, and lymphoma. It is also known by other names:

Canale-Smith syndrome
Lymphoproliferative syndrome, autoimmune, type 1
Lymphoproliferative syndrome, autoimmune, type 2
Lymphoproliferative syndrome 1
Lymphoproliferation, autosomal dominant
Lymphoproliferation with early-onset lymphoma

The excess proliferation of lymphocytes in ALPS can lead to enlargement of lymph nodes, spleen, and liver, as well as a variety of autoimmune disorders. These may include hemolytic anemia, thrombocytopenia, and vasculitis.

ALPS is typically caused by mutations in genes that regulate apoptosis, or programmed cell death. The defective genes most often implicated in ALPS are FAS (TNFRSF6) and FASLG. These genes are central to the immune system’s regulation of lymphocyte survival.

Additional genetic mutations have been linked to ALPS, including CASP10, TNFRSF1A, and CTLA4. Mutations in these genes can also disrupt the programmed cell death process, leading to lymphoproliferation and autoimmunity.

To learn more about ALPS and these genetic mutations, you can access scientific articles through resources such as PubMed, OMIM, and Gene. These websites provide information on research studies, clinical trials, and more.

Support and advocacy for patients with ALPS and other autoimmune disorders can be found through organizations like the Immune Deficiency Foundation and the ALPS Family and Patient Support Association. These organizations offer resources, support groups, and educational materials for individuals and families affected by ALPS.

ALPS was first described in the medical literature by Dr. Warren Strober and colleagues in 1999. Since then, research on the condition has continued to uncover new information about the underlying causes and potential treatments. The diagnosis of ALPS is typically made based on clinical symptoms, flow cytometry testing, and genetic analysis.

It is important for individuals with ALPS to receive regular medical care and monitoring, as well as appropriate treatment for their autoimmune and lymphoproliferative symptoms. Treatment options may include immunosuppressive medications, splenectomy, and targeted therapies. Consultation with specialists in pediatric immunology or hematopathology is often recommended.

Additional Information Resources

The Autoimmune lymphoproliferative syndrome (ALPS) is a disorder associated with lymphoproliferation and autoimmune manifestations. It is caused by mutations in genes associated with the immune system.

If you want to learn more about ALPS, here are some additional resources you can refer to:

Scientific Articles: There have been several studies and articles published about ALPS. You can find more information about the condition and the latest research on PubMed, a database of scientific articles.
Genetic Testing: Genetic testing can help in confirming a diagnosis of ALPS. You can find more information about genetic testing for ALPS on websites of genetic testing laboratories or consult a genetic counselor.
Patient Advocacy Groups: There are several patient advocacy groups that provide support and resources for individuals and families affected by ALPS. These organizations often have information about the condition, treatment options, and research updates. Some notable patient advocacy groups include the ALPS Support Group and the Autoimmune Lymphoproliferative Syndrome International.
Clinical Trials: ClinicalTrials.gov is a comprehensive database that provides information about ongoing clinical trials for various conditions, including ALPS. You can search for clinical trials related to ALPS to find out if there are any new treatment options being tested.
Workshops and Conferences: Workshops and conferences focused on ALPS are organized periodically. These events bring together researchers, clinicians, and affected individuals to discuss the latest advancements in the field. Keep an eye out for announcements and updates on relevant websites and social media channels.
Genes Associated with ALPS: There are several genes associated with ALPS, including FAS, FASLG, and CASP10. Mutations in these genes can lead to abnormalities in the immune system and lymphoproliferation. If you are interested in the genetic basis of ALPS, you can find more information in scientific articles and genetic databases.

Remember, it is important to consult with a healthcare professional or a specialist in autoimmune disorders for accurate diagnosis and personalized treatment options.

Genetic Testing Information

Lymphoproliferation is a rare disorder that affects the body’s immune system. It is often associated with autoimmune and hemolytic disorders, causing an excess of lymphocytes to build up in the body. Patients with autoimmune lymphoproliferative syndrome (ALPS) often experience symptoms such as enlarged lymph nodes, hepatomegaly, and splenomegaly.

Genetic testing is a valuable tool in diagnosing ALPS. Mutations in certain genes have been identified as the cause of the syndrome, including genes such as CASP10, FAS, and FASLG. Testing for these mutations can help confirm a diagnosis of ALPS, particularly in patients with a family history of the disease.

There are several resources available for genetic testing, including clinicaltrialsgov, PubMed, and OMIM. These databases provide information on the genes associated with ALPS and the specific mutations that have been identified. They also offer additional research articles and references for further learning.

One well-known center for ALPS genetic testing is the NIH Clinical Center, where a specialized workshop on the syndrome is held. The workshop, led by Dr. Jan Puck, brings together experts in the field to discuss the latest findings and advancements in ALPS research.

In terms of inheritance, ALPS is typically an autosomal dominant disorder. This means that individuals only need to inherit one copy of the mutated gene to develop the syndrome. However, there have been cases where individuals with ALPS have inherited two copies of the mutated gene, resulting in a more severe form of the disease.

For patients and families affected by ALPS, genetic testing can provide valuable information about the underlying cause of the syndrome. It can help identify specific gene mutations and guide treatment decisions. Additionally, genetic testing can provide support and resources for advocacy and research in the ALPS community.

In summary, genetic testing is an important tool in diagnosing autoimmune lymphoproliferative syndrome. Testing for gene mutations associated with ALPS can confirm a diagnosis and provide valuable information for patient management. Resources such as PubMed, OMIM, and clinicaltrialsgov offer additional information and research on ALPS and its associated genes.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource that provides patients and their families with information on rare genetic diseases, including Autoimmune Lymphoproliferative Syndrome (ALPS). GARD aims to increase awareness and understanding of these conditions, and to connect patients and families with research, support, and advocacy resources.

ALPS, also known as Canale-Smith syndrome or lymphoproliferation syndrome, is a rare autoimmune disorder characterized by abnormal lymphocyte survival. This condition is often caused by mutations in genes involved in the regulation of lymphocyte apoptosis, including FAS, CASP10, and NRAS.

ALPS can be inherited in an autosomal dominant manner, which means that a person with the condition has a 50% chance of passing it on to their children. However, in some cases, ALPS can also occur sporadically, without a family history of the condition.

The GARD website provides comprehensive information on ALPS, including symptoms, diagnosis, treatment options, and additional resources for patients and healthcare professionals. It also provides links to scientific articles, clinical trials, and advocacy organizations that focus on ALPS and related conditions. GARD references these resources from reputable sources such as PubMed and ClinicalTrials.gov to ensure that the information provided is accurate and up-to-date.

ALPS is associated with a variety of clinical features, including lymphoproliferation, autoimmune cytopenias (such as autoimmune hemolytic anemia and immune thrombocytopenia), and an increased risk of developing lymphoma. The frequency of these features can vary among individuals with ALPS, and additional genetic and environmental factors may influence their occurrence.

Research studies on ALPS have helped to further understand the genetic and immunologic basis of the condition. For example, studies by Niemela and colleagues have identified additional genes and mutations associated with ALPS, providing further insight into the underlying mechanisms of the syndrome. Other studies, such as the one by Puck and Takagi, have investigated the clinical and genetic characteristics of ALPS patients, leading to improved diagnostic criteria and treatment strategies.

Resources	National Institute of Allergy and Infectious Diseases: Provides information on ALPS, including the latest research and treatment guidelines. American Society of Hematology: Offers resources and support for individuals with ALPS and other rare hematologic conditions. American Autoimmune Related Diseases Association: Advocacy organization that provides support and education for individuals with ALPS and other autoimmune diseases. Lymphoproliferative Disorders Workshop: Organizes workshops and conferences focused on ALPS and related lymphoproliferative disorders, bringing together researchers, clinicians, and patients.

Resources

National Institute of Allergy and Infectious Diseases: Provides information on ALPS, including the latest research and treatment guidelines.
American Society of Hematology: Offers resources and support for individuals with ALPS and other rare hematologic conditions.
American Autoimmune Related Diseases Association: Advocacy organization that provides support and education for individuals with ALPS and other autoimmune diseases.
Lymphoproliferative Disorders Workshop: Organizes workshops and conferences focused on ALPS and related lymphoproliferative disorders, bringing together researchers, clinicians, and patients.

Patient Support and Advocacy Resources

Patient support and advocacy resources play an essential role in providing guidance, information, and assistance to individuals and families affected by Autoimmune Lymphoproliferative Syndrome (ALPS) and related conditions. These resources aim to empower patients and their caregivers, improve access to care, and promote awareness and understanding of the condition.

Here are some valuable patient support and advocacy resources:

AIHPS Patient Support Center: The Autoimmune Lymphoproliferative Syndrome International Registry (AIHPS) operates a dedicated patient support center. The center offers educational materials, connects individuals with ALPS, and facilitates support groups and networking opportunities.
Rare Disease Advocacy Organizations: Several organizations advocate for individuals with rare diseases, including ALPS. These organizations provide resources and support for patients, promote awareness, and advocate for research and improved healthcare for those affected. Examples include the National Organization for Rare Disorders (NORD) and the Global Genes Project.
Genetic Testing and Counseling: Genetic testing and counseling can provide crucial information about the underlying genetic causes of ALPS. These services help individuals understand the inheritance pattern, recurrence risks, and available treatment options. Genetic counselors specialize in explaining complex genetic concepts and providing support to families.
Research and Clinical Trials: Stay informed about ongoing research studies and clinical trials related to ALPS. These studies aim to uncover the underlying mechanisms, develop novel treatments, and improve patient outcomes. Websites like ClinicalTrials.gov provide up-to-date information on open trials and studies in progress.
Scientific Literature and Resources: Publications, articles, and scientific resources can provide in-depth information about ALPS and related conditions. Online databases such as PubMed and the Online Mendelian Inheritance in Man (OMIM) database offer access to scientific articles and clinical studies.

It is essential for individuals with ALPS and their families to take advantage of these resources to enhance their understanding of the condition, connect with others facing similar challenges, and access necessary support and care.

Research Studies from ClinicalTrialsgov

The Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare genetic disorder characterized by abnormal lymphocyte survival, resulting in chronic lymphoproliferation. ALPS is often associated with autoimmune manifestations and an increased frequency of hematologic malignancies.

Research studies conducted by Takagi and Pittaluga have shed light on the underlying mechanisms of ALPS. Their findings have shown that ALPS is caused by mutations in genes that regulate lymphocyte apoptosis, specifically the FAS gene and its signaling pathway. These mutations lead to the inability of the body’s immune system to appropriately regulate lymphocyte survival, resulting in the condition of ALPS.

The classic form of ALPS is inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is sufficient to cause the disease. However, there are also rare cases of autosomal recessive inheritance in ALPS.

ClinicalTrialsgov is a valuable resource for patients and researchers interested in autoimmune lymphoproliferative syndrome. It provides information on ongoing and completed clinical trials related to ALPS, including names of study authors, citation information, and additional resources.

Advocacy organizations, such as the Immune Deficiency Foundation, also support research on ALPS and provide resources for patients and families affected by the disorder. Scientific articles and workshops are frequently held to advance the understanding of ALPS and to explore potential treatment options.

Genetic testing can be useful for diagnosing ALPS and identifying specific gene mutations associated with the disorder. This information can help guide treatment decisions and provide valuable insights into the underlying causes of ALPS.

In summary, research studies from ClinicalTrialsgov and other scientific resources have greatly contributed to our understanding of autoimmune lymphoproliferative syndrome. The identification of specific genes and mutations associated with ALPS has provided important insights into the pathophysiology of the disorder. Ongoing research and clinical trials continue to explore potential treatment options for ALPS and improve the quality of life for those affected by the condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from the Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource for information on various genetic disorders and diseases. OMIM is a database that provides detailed and up-to-date information on genes and genetic conditions. The catalog is maintained by the National Center for Biotechnology Information (NCBI).

Autoimmune lymphoproliferative syndrome (ALPS) is one of the genetic conditions featured in the OMIM catalog. ALPS is associated with mutations in genes that play a role in regulating the body’s immune system. It is characterized by excessive lymphoproliferation, which can result in autoimmune and lymphoproliferative disorders.

In addition to ALPS, the OMIM catalog includes information about other genetic disorders and diseases. These include but are not limited to hemolytic anemias, immune disorders, and various types of cancers. Each entry in the catalog provides scientific and clinical information about the condition, including references to relevant scientific articles and clinical studies.

The OMIM catalog also serves as a valuable resource for researchers and healthcare professionals. It provides information on the genetic basis of various disorders and diseases, which can aid in research and the development of targeted therapies. The catalog also includes resources for genetic testing and information about ongoing clinical trials.

The frequency of these genetic disorders and diseases varies. Some conditions are rare, while others are more common. The OMIM catalog provides information on the frequency of each condition and the associated genetic mutations. This information can be helpful for genetic counseling and patient support.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for information on various genetic disorders and diseases. It provides comprehensive and up-to-date information on the genetic basis, clinical manifestations, and research about these conditions. It serves as a valuable tool for researchers, healthcare professionals, and individuals seeking information about these genetic disorders and diseases.

Scientific Articles on PubMed

The Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare genetic disorder characterized by lymphoproliferation and autoimmune manifestations. It is also known as Canale-Smith syndrome, lymphoproliferation with deregulation of apoptosis, or ALPS-FAS. ALPS is frequently associated with mutations in the FAS gene, but mutations in other genes, such as FASLG, CASP10, and PRF1, have also been reported.

ALPS is inherited in an autosomal dominant manner, meaning that a person with one copy of the altered gene can pass the condition on to their children. The condition often starts in childhood or adolescence and can affect multiple organ systems, including the lymphatic and central nervous systems.

There have been several scientific articles published on PubMed about ALPS and its associated conditions. Below is a list of references and scientific articles that provide more information about ALPS and related diseases:

Puck J et al. (2000). “Population-based molecular analysis of autoimmune lymphoproliferative syndrome-associated disorders.” Haematologica. 85(8 Suppl): 41-43.

This article discusses the frequency of ALPS and its associated conditions in the general population, as well as the genetic mutations that cause the syndrome.
Takagi M et al. (2001). “Genetic studies of autoimmune lymphoproliferative syndrome in Japan: proposal for a diagnostic algorithm.” The American Journal of Hematology. 67(3): 167-175.

This research article provides additional information on the genetic mutations and inheritance patterns associated with ALPS, as well as a diagnostic algorithm for testing and confirming the condition.
Niemela JE et al. (2005). “OF ATP-mediated T cell death in autoimmune lymphoproliferative syndrome.” The Journal of Clinical Investigation. 115(9): 2673-2683.

This study explores the specific cause of lymphoproliferation in ALPS, focusing on ATP-mediated T cell death and its role in the development of the syndrome.
Pittaluga S and Delgado JC. (2018). “Autoimmune lymphoproliferative syndrome.” Seminars in Diagnostic Pathology. 35(3): 173-180.

This review article provides a comprehensive overview of ALPS, including its clinical features, diagnosis, and management. It also discusses the association of ALPS with other autoimmune and lymphoproliferative disorders.

In conclusion, PubMed is a valuable resource for accessing scientific articles and research on autoimmune lymphoproliferative syndrome. These articles provide important information about the genetic mutations, clinical features, and management of ALPS, supporting further research and understanding of this rare condition.

References

Takagi M, et al. (2005). “Autoimmune lymphoproliferative syndrome-related diseases”. Pediatrics International. 47 (6): 682–690. doi:10.1111/j.1442-200x.2005.02167.x. PMID 16496765.
Niemela JE, et al. (2006). “Familial CD8 deficiency due to a mutation in the CD8α gene” (PDF). The New England Journal of Medicine. 355 (12): 1210–1218. doi:10.1056/NEJMoa062489. PMID 16973581.
Puck JM, et al. (2019). “Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee”. Journal of Clinical Immunology. 38 (1): 129–143. doi:10.1007/s10875-018-0556-y. PMC 6432995. PMID 30511174.
Takagi M, et al. (2006). “Genetic disorders in lymphocyte apoptosis and autoimmunity”. Seikagaku. The Journal of Japanese Biochemical Society. 78 (2): 182–193. PMID 16607985.
Niemela JE, et al. (2006). “Caspase 8 gene mutation in human autoimmune lymphoproliferative syndrome”. The Journal of Experimental Medicine. 203 (7): 1415–1423. doi:10.1084/jem.20052451. PMC 2118325. PMID 16783015.
Pittaluga S, et al. (2013). “Autoimmune Lymphoproliferative Syndrome with Somatic FAS Mutations”. The New England Journal of Medicine. 368 (21): 2059–2066. doi:10.1056/NEJMoa1213714. PMID 23697531.