NEZELOF SYNDROME Meaning and
Definition
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Nezelof syndrome, also known as severe combined immunodeficiency with hypoplasia of the thymus, is a rare genetic disorder that affects the immune system. It is characterized by a severely weakened immune response due to the underdevelopment or absence of the thymus gland. This condition is typically diagnosed during infancy or early childhood.
The thymus gland plays a crucial role in the development and maturation of specialized white blood cells called T lymphocytes, which are essential for fighting infections. In Nezelof syndrome, the thymus gland is either abnormally small or completely absent, resulting in a compromised immune system. As a result, affected individuals are highly susceptible to infections, including severe and recurrent bacterial, viral, and fungal infections.
In addition to immunodeficiency, Nezelof syndrome may also present with other associated symptoms such as growth retardation, facial abnormalities, heart defects, and various endocrine disorders. These additional features contribute to the overall complexity and variability of the condition.
Nezelof syndrome is inherited in an autosomal recessive pattern, which means that both copies of the responsible gene must be mutated for an individual to develop the disorder. Genetic counseling and carrier testing are recommended for families with a history of Nezelof syndrome to assess the risk of passing on the condition to future children.
Treatment typically involves a combination of supportive measures to prevent and manage infections, such as antibiotic prophylaxis, antiviral medications, and regular immunoglobulin replacement therapy. In severe cases, bone marrow transplantation or thymus transplantation may be considered as potential treatment options.
Common Misspellings for NEZELOF SYNDROME
- bezelof syndrome
- mezelof syndrome
- jezelof syndrome
- hezelof syndrome
- nwzelof syndrome
- nszelof syndrome
- ndzelof syndrome
- nrzelof syndrome
- n4zelof syndrome
- n3zelof syndrome
- nexelof syndrome
- neselof syndrome
- neaelof syndrome
- nezwlof syndrome
- nezslof syndrome
- nezdlof syndrome
- nezrlof syndrome
- nez4lof syndrome
- nez3lof syndrome
- nezekof syndrome
Etymology of NEZELOF SYNDROME
The term "Nezelof syndrome" is named after the French pediatrician and immunologist Georges J.F Nezelof (1924-2003). Dr. Nezelof first described the condition in 1967, which is now known as severe combined immunodeficiency (SCID). The disorder was later renamed as "Nezelof syndrome" in his honor to acknowledge his contribution to its understanding and research.
