What are the consequences of thymic aplasia?
There are several genetic disorders in humans that result in permanent hypoplasia or occasional aplasia of the thymus evident at birth. These genetic disorders often lead to severe combined immunodeficiency (SCID) (8).
What is Nezelof syndrome?
Nezelof’s syndrome(combined immunodeficiency with immunoglobulin) is a hereditary primary immunodeficiency characterized by recurrent chronic pulmonary infections, oral and cutaneous candidiasis, failure to thrive, chronic diarrhea, skin infection, urinary tract infection, gram-negative sepsis, severe progressive …
Which symptoms and signs are associated with DiGeorge thymic hypoplasia or aplasia )?
Signs and symptoms may include some combination of the following:
- Heart murmur and bluish skin due to poor circulation of oxygen-rich blood (cyanosis) as a result of a heart defect.
- Frequent infections.
- Certain facial features, such as an underdeveloped chin, low-set ears, wide-set eyes or a narrow groove in the upper lip.
How does DiGeorge syndrome affect the immune system?
DiGeorge syndrome (DGS) is a primary immunodeficiency disease (PIDD) associated with susceptibility to infections due to decreased T cell production and function due to an absent or poorly developed thymus. The thymus is the “school house” where T-cells are educated to fight infection and prevent autoimmunity.
What is the cause of Wiskott Aldrich syndrome?
Wiskott-Aldrich syndrome is caused by mutations in the WAS gene, which provides instructions for production of a protein called WASp.
What is SCID caused by?
The best-known form of autosomal recessive SCID is caused by adenosine deaminase (ADA) deficiency, in which infants lack the ADA enzyme necessary for T-cell survival. X-linked SCID, which is caused by mutations in a gene on the X chromosome, primarily affects male infants.
Nezelof syndrome. Nezelof syndrome is an autosomal recessive congenital immunodeficiency condition due to underdevelopment of the thymus. The defect is a type of purine nucleoside phosphorylase deficiency with inactive phosphorylase, this results in an accumulation of deoxy-GTP which inhibits ribonucleotide reductase.
What is the pathophysiology of thymus atrophy?
A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by atrophy of the thymus in the absence of other congenital abnormalities, with profound T- cell deficiency, while serum immunoglobulin levels are normal or increased.
What are the treatment options for Nezelof syndrome?
In terms of treatment for individuals with Nezelof syndrome, which was first characterized in 1964, includes the following (how effective bone marrow transplant is uncertain ) : ^ James, William D.; Berger, Timothy G.; et al. (2006).
What tests are used to diagnose Nezelof syndrome?
The diagnosis of Nezelof syndrome will indicate a deficiency of T-cells, additionally in ascertaining the condition the following is done: Blood test(B-cell will be normal) X-ray of thymus(atrophy present)