Congenital athymia

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Congenital athymia
Synonyms	Thymic aplasia
Pronounce	N/A
Specialty	Immunology
Symptoms	Immunodeficiency, recurrent infections, failure to thrive
Complications	N/A
Onset	Birth
Duration	Lifelong
Types	N/A
Causes	Genetic mutations (e.g., 22q11.2 deletion syndrome, CHARGE syndrome)
Risks	Increased susceptibility to infections
Diagnosis	Genetic testing, immunophenotyping
Differential diagnosis	Severe combined immunodeficiency, DiGeorge syndrome
Prevention	N/A
Treatment	Thymus transplantation, Hematopoietic stem cell transplantation
Medication	N/A
Prognosis	Variable, dependent on treatment
Frequency	Rare
Deaths	N/A

Congenital Athymia

Posterior view of the human thymus

Congenital athymia is a rare immunodeficiency disorder characterized by the absence of the thymus gland at birth. The thymus is a critical organ in the development of the immune system, particularly in the maturation of T cells, which are essential for adaptive immunity.

Pathophysiology

In congenital athymia, the thymus fails to develop during embryogenesis. This results in a lack of functional T cells, leading to severe immunodeficiency. Without T cells, the body is unable to mount an effective immune response against infections, making individuals highly susceptible to a wide range of pathogens.

Clinical Presentation

Infants with congenital athymia typically present with recurrent infections, failure to thrive, and other signs of immunodeficiency. The absence of the thymus can be confirmed through imaging studies and laboratory tests that show a lack of T cell production.

Diagnosis

Diagnosis of congenital athymia involves a combination of clinical evaluation, laboratory tests, and imaging studies. Blood tests often reveal low or absent T cell counts. Imaging, such as chest X-rays or MRI, can confirm the absence of the thymus.

Treatment

The primary treatment for congenital athymia is thymus transplantation, which can provide the necessary environment for T cell development. Other supportive treatments include prophylactic antibiotics and immunoglobulin replacement therapy to help prevent infections.

Prognosis

The prognosis for individuals with congenital athymia has improved with advances in treatment, particularly thymus transplantation. Early diagnosis and intervention are crucial for improving outcomes.

See Also

• Thymus
• T cell
• Immunodeficiency
• Thymus transplantation