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. Ribonucleotide reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides, thus, DNA replication is inhibited.
Symptoms and signs
This condition causes severe infections. it is characterized by elevated immunoglobulins that function poorly. Other symptoms are:
- Bronchiectasis
- Hepatosplenomegaly
- Pyoderma
- Emphysema
- Diarrhea
Cause
Genetically speaking, Nezelof syndrome is autosomal recessive. the condition is thought to be a variation of severe combined immunodeficiency(SCID) However, the precise cause of Nezelof syndrome remains uncertain
Mechanism
In the mechanism of this condition, one first finds that the normal function of the thymus has it being important in T-cell development and release into the body's blood circulation Hassal's corpuscles absence in thymus(atrophy) has an effect on T-cells.
Diagnosis
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)
Differential diagnosis
The differential diagnosis for this condition consists of acquired immune deficiency syndrome and severe combined immunodeficiency syndrome
Treatment
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) :
- Antimicrobial therapy
- IV immunoglobulin
- Bone marrow transplantation
- Thymus transplantation
- Thymus factors
See also
- List of radiographic findings associated with cutaneous conditions