CD3epsilon deficiency

CD3epsilon Deficiency: A Severe Combined Immunodeficiency

CD3epsilon deficiency, also known as CD3E deficiency, is a rare genetic disorder that affects the immune system. It is characterized by a complete block in T cell development and an early onset of severe combined immunodeficiency (SCID).

Key Features:

• Autosomal Recessive Inheritance: CD3epsilon deficiency is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene for their child to inherit the condition.
• Complete Block in T Cell Development: The deficiency leads to a complete block in the development of T cells, which are a type of white blood cell essential for fighting infections and diseases.
• Early Onset of SCID: CD3epsilon deficiency is associated with an early onset of severe combined immunodeficiency, a condition characterized by a weakened immune system that makes it difficult for the body to fight off infections.

Clinical Features:

• Recurrent and severe infections
• Failure to thrive
• Delayed or absent development of T cells
• Absence of T cell receptor (TCR) expression on T cells

Laboratory Features:

• Low or absent levels of CD3epsilon protein on the surface of T cells
• Absence of TCR expression on T cells
• Normal levels of other immune cells, such as B cells and natural killer cells

Diagnosis and Differential Diagnosis:

• Genetic testing to confirm the presence of mutations in the CD3E gene
• Flow cytometry to assess T cell receptor (TCR) expression on T cells
• Differential diagnosis with other forms of SCID and immunodeficiencies.

Treatment:

• Bone Marrow Transplantation: The only curative treatment for CD3epsilon deficiency is bone marrow transplantation from a healthy donor.
• Immunoglobulin Replacement Therapy: Patients may require regular infusions of immunoglobulins to help replace the missing antibodies in their blood.
• Antibiotic Prophylaxis: Regular antibiotic prophylaxis may be necessary to prevent infections.

References:

• [1] A Fischer, "Recent description of deleterious mutations in the genes encoding CD3 subunits expressed at the T-lymphocyte membrane" (2005)
• [9] CD3ε Deficiency (OMIM #186830)​​
• [8] A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon ...
• [10] The meaning of DESCRIPTION is an act of describing; specifically : discourse intended to give a mental image of something experienced.

CD3 epsilon deficiency is a rare congenital syndrome that affects the immune system. The signs and symptoms of this condition can vary, but they often include:

• Recurrent lung infections [1]
• Urinary tract infections [1]
• Intractable diarrhea [1]
• Failure to thrive (FTT) in infancy [2]

These symptoms are a result of the impaired T cell function, which is essential for fighting off infections and maintaining overall health

Diagnostic Testing for CD3 Epsilon Deficiency

CD3 epsilon deficiency is a rare genetic disorder that affects the immune system. Diagnostic testing for this condition can help identify individuals who may be affected and inform prognosis and clinical management.

• Genetic Testing: Genetic testing for CD3 epsilon mutations is commercially available through various diagnostic laboratories (see resource section). This type of testing can confirm the presence of a mutation in the CD3E gene, which is associated with CD3 epsilon deficiency.
• Laboratory Tests: Laboratory tests may be performed to assess immune function and identify any abnormalities. These tests may include:
  • Complete Blood Count (CBC) to evaluate white blood cell count and differential
  • Immunoglobulin levels to assess antibody production
  • T-cell subset analysis to evaluate the number and function of T-cells
• Newborn Screening: Newborn screening programs may also be used to identify infants who are at risk for CD3 epsilon deficiency. These programs typically involve a blood test that is performed on all newborns within the first few days of life.

References

1. Genetic testing for CD3 delta and CD3 epsilon mutations is commercially available through Correlagen diagnostics (see resource section). MANAGEMENT. Pending the ...
2. Diagnostic testing of this gene is recommended to identify a potential genetic basis for a condition. This type of testing can inform prognosis and clinical management.
3. Clinical resource with information about Immunodeficiency 18 and its clinical features, CD3E, available genetic tests from US and labs around the world and ...

Note: The above answer is based on the context provided, which includes search results containing brief descriptions of relevant content.

Based on the search results, it appears that there are limited information available on the drug treatment of CD3epsilon deficiency.

However, I found some relevant information in search result [12] which states that "CD3δ deficiency is a fatal form of severe combined immunodeficiency which can be cured by hematopoietic stem cell transplantation (HSCT)". This suggests that HSCT may be an effective treatment for CD3delta deficiency, but not specifically for CD3epsilon deficiency.

In search result [10], it mentions that "CD3 deficiencies resulting in SCID should be treated with a HSCT". However, this is also referring to CD3delta deficiency, and not specifically CD3epsilon deficiency.

Unfortunately, I couldn't find any specific information on the drug treatment of CD3epsilon deficiency. It's possible that there may be some emerging research or clinical trials that are not yet widely available or reported in the search results.

If you're looking for more information on this topic, I would recommend searching for peer-reviewed articles or consulting with a medical professional who specializes in immunology or genetics.

Here is a summary of what I found:

• HSCT may be an effective treatment for CD3delta deficiency, but not specifically for CD3epsilon deficiency.
• There is limited information available on the drug treatment of CD3epsilon deficiency.
• Further research or clinical trials may be needed to determine the most effective treatment options for CD3epsilon deficiency.

References: [10] [12]

Differential Diagnosis of CD3epsilon Deficiency

CD3epsilon deficiency is a rare genetic disorder that affects the immune system, leading to severe combined immunodeficiency (SCID). The differential diagnosis of CD3epsilon deficiency involves distinguishing it from other conditions that may present with similar clinical features.

• Complete CD3delta or CD3epsilon deficiencies: These are characterized by the absence of T cells and a SCID phenotype. Patients with complete CD3delta or CD3epsilon deficiencies have a typical SCID phenotype, whereas those with CD3gamma deficiency can have a milder or more severe form of the disease [1].
• CD3gamma deficiency: This condition presents with a range of clinical phenotypes, from immune deficiency to immune dysregulation with autoimmunity. Individuals with CD3gamma deficiency may also present with a SCID phenotype or a milder form of the disease [6].
• Partial defects in CD3 or CD247: These can lead to a T +/ - B + NK + phenotype, which is distinct from the T - B + NK + phenotype seen in complete CD3epsilon deficiencies