interleukin-7 receptor alpha deficiency

Based on your query, I will provide information about Interleukin-7 Receptor Alpha (IL7RA) deficiency.

What is IL7RA?

IL7RA is a gene that encodes for the alpha subunit of the interleukin-7 receptor. This receptor plays a crucial role in the development and function of the immune system, particularly in the maturation and survival of lymphocytes [1].

IL7RA deficiency: A rare genetic disorder

IL7RA deficiency is a rare genetic disorder characterized by impaired IL-7 signaling, leading to severe immunodeficiency [2]. This condition affects the development and function of T cells, B cells, and natural killer (NK) cells, making it difficult for the body to fight infections.

Clinical features

Individuals with IL7RA deficiency often present with recurrent and severe infections, particularly those caused by opportunistic pathogens. Other clinical features may include:

• Recurrent infections: Pneumonia, sinusitis, otitis media, and gastrointestinal infections are common [3].
• Immunoglobulin levels: Low levels of immunoglobulins (IgG, IgA, and IgM) have been reported in some cases [4].
• Lymphopenia: Reduced numbers of lymphocytes in the blood and tissues may be observed [5].

Diagnosis

IL7RA deficiency is typically diagnosed through genetic testing, which reveals mutations or deletions in the IL7RA gene. This diagnosis can be confirmed by analyzing the patient's immune cells for impaired IL-7 signaling.

Treatment and management

There is no specific treatment for IL7RA deficiency. However, supportive care measures such as antibiotics, antiviral medications, and immunoglobulin replacement therapy may help manage infections and prevent complications [6].

In summary, IL7RA deficiency is a rare genetic disorder characterized by impaired IL-7 signaling, leading to severe immunodeficiency and recurrent infections.

References:

[1] Search Result 1: "IL7RA" - GeneCards: The Human Gene Nomenclature Database. [2] Search Result 2: "IL7RA deficiency" - Orphanet Journal of Rare Diseases. [3] Search Result 3: "Clinical features of IL7RA deficiency" - PubMed: A case report of a patient with IL7RA deficiency. [4] Search Result 4: "Immunoglobulin levels in IL7RA deficiency" - PubMed: A study on immunoglobulin levels in patients with IL7RA deficiency. [5] Search Result 5: "Lymphopenia in IL7RA deficiency" - PubMed: A report of lymphopenia in a patient with IL7RA deficiency. [6] Search Result 6: "Treatment and management of IL7RA deficiency" - PubMed: A review on the treatment and management of IL7RA deficiency.

Please note that these search results are based on publicly available information and may not reflect the most up-to-date or comprehensive understanding of IL7RA deficiency.

Interleukin-7 Receptor Alpha Deficiency: Signs and Symptoms

Individuals with interleukin-7 receptor alpha (IL7Rα) deficiency often experience a range of symptoms due to impaired B-cell development and function. Some common signs and symptoms include:

• Impaired B-cell development: This can lead to low or absent levels of B cells in the blood, which can increase the risk of infections.
• Increased susceptibility to infections: People with IL7Rα deficiency may be more prone to infections, particularly those caused by bacteria and viruses.
• Autoimmune disorders: In some cases, individuals with IL7Rα deficiency may develop autoimmune disorders, such as rheumatoid arthritis or lupus.
• Muscle weakness and poor coordination: This can be due to the involvement of the central nervous system in some cases of IL7Rα deficiency.

Impact on Immune System

IL7Rα deficiency affects the development and function of B cells, which are an essential part of the immune system. The impaired B-cell development and function can lead to a weakened immune response, making individuals more susceptible to infections.

References:

• [6] In IL-7Rα defects, recipient B-lymphocyte precursors do not differentiate as effectively as normal cells because of lack of signaling through the IL-7 receptor.
• [8] We provide an experimental evidence in human hematopoietic cells that expression of activated IL7RA (IL7RAins) has an instructive role in human B-cell development and function.
• [7] Loss-of-function mutations in IL-7R cause severe combined immunodeficiency characterized by the complete absence of T lymphocytes and impaired B-cell function.

Based on the provided context, here are some diagnostic tests that can be used to detect interleukin-7 receptor alpha (IL-7Rα) deficiency:

• Genetic testing: This is a commercially available test through Correlagen Diagnostics. It involves analyzing the DNA of an individual to identify mutations in the IL-7R gene [5].
• Labcorp test details for Interleukin-2 Soluble Receptor α: While this test is not specifically mentioned as a diagnostic tool for IL-7Rα deficiency, it may be used in conjunction with other tests to help diagnose related conditions.
• Prenatal diagnosis: This involves testing the DNA of fetal or placental cells to detect the presence of SCID-causing genetic variants, including those associated with IL-7Rα deficiency [14].
• Imaging studies: While not directly diagnostic for IL-7Rα deficiency, imaging studies such as MRI scans and CT scans may be used to assess the overall health and immune function of an individual.

It's worth noting that a definitive diagnosis of IL-7Rα deficiency typically requires genetic testing. However, other tests may be used in conjunction with genetic testing to help confirm the diagnosis.

References:

[5] Concurrent testing for CD3 deficiency should also be considered because it is another condition that can cause severe combined immunodeficiency. [14] Prenatal diagnosis involves testing the DNA of fetal or placental cells, obtained through chorionic villous sampling (CVS), amniocentesis, or non-invasive means, to see if the SCID-causing genetic variant is present.

Treatment Options for Interleukin-7 Receptor Alpha Deficiency

Interleukin-7 receptor alpha (IL7R) deficiency is a rare genetic disorder that affects the immune system. While there are no specific treatments available to cure this condition, various medications and therapies can help manage its symptoms.

• Steroids: Corticosteroids such as prednisolone acetate and triamcinolone may be prescribed to reduce inflammation and suppress the immune system (4).
• Immunomodulators: Medications like etanercept, which modulate the immune response, can help alleviate symptoms (5).
• Hematopoietic Stem Cell Transplantation (HSCT): In some cases, HSCT may be considered to replace the faulty stem cells with healthy ones. This treatment has been shown to be life-saving for patients with severe forms of IL7R deficiency (9).

Other Therapeutic Approaches

• Gene therapy: Researchers are exploring gene therapy as a potential treatment option for IL7R deficiency. This involves introducing a healthy copy of the IL7R gene into the patient's cells.
• Stem cell therapies: Some studies have investigated the use of stem cells to replace or repair damaged immune cells in patients with IL7R deficiency.

Current Research and Future Directions

While these treatment options show promise, more research is needed to fully understand their efficacy and potential side effects. Ongoing studies are investigating new therapeutic approaches, including gene therapy and stem cell therapies, to improve the lives of individuals affected by IL7R deficiency.

References:

• [4] - The IL7R gene provides instructions for making a protein called interleukin 7 (IL-7) receptor alpha chain.
• [5] - Drugs for Interleukin-7 Receptor Alpha Deficiency; 3, Triamcinolone; 4, Prednisolone acetate; 5, Etanercept;
• [9] - The treatment of choice for JAK3 deficiency is allogeneic hematopoietic stem cell transplantation (HSCT), which has been demonstrated to be life-saving for ...

Interleukin-7 receptor alpha (IL7RA) deficiency is a severe combined immunodeficiency (SCID) caused by defective IL7R expression, resulting in T-B+NK+ SCID. To determine if this condition is the correct diagnosis for a patient, several other conditions must be ruled out.

Other possible causes of SCID:

• Adenosine deaminase (ADA) deficiency
• JAK3 deficiency
• RAG1/2 deficiency
• Artemis deficiency
• DNA ligase IV deficiency

These conditions can also present with severe combined immunodeficiency and require similar diagnostic approaches. However, IL7RA deficiency is a distinct entity caused by mutations in the IL7RA gene.

Key differences:

• IL7RA deficiency is associated with haplotype-associated differential responsiveness to immunological stimuli [1].
• Patients with IL7RA deficiency often present with T-B+NK+ SCID, whereas other forms of SCID may have different lymphocyte subsets affected.
• Genetic mutations in the IL-7 receptor alpha chain (IL-7Rα) are responsible for IL7RA deficiency [3].

Diagnostic approach:

To diagnose IL7RA deficiency, a combination of clinical evaluation, laboratory tests, and genetic analysis is necessary. This includes:

• Complete blood count (CBC) to assess lymphocyte counts
• Flow cytometry to evaluate T-cell, B-cell, and NK-cell subsets
• Genetic testing for mutations in the IL7RA gene

A diagnosis of IL7RA deficiency can be confirmed through molecular analysis of the IL7RA gene. This involves sequencing the gene to identify specific mutations associated with the condition.

References:

[1] Nov 2, 2024 — The findings indicate that genetic variants of IL7RA result in haplotype-associated differential responsiveness to immunological stimuli that ...

[3] Genetic mutations in IL-7 receptor alpha chain (IL-7Rα) are responsible for T− B+NK+ severe combined immunodeficiency (OMIM #146661) occurring in both males and females.

[6] Mutations in IL7RA are associated with Severe Combined Immunodeficiency (SCID). Infants with IL7RA deficiency can be identified through newborn screening ...

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