Nezelof syndrome
Template:Infobox medical condition (new) Nezelof syndrome is an autosomal recessive[1] 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.Template:Medical citation needed
Symptoms and signs
This condition causes severe infections. it is characterized by elevated immunoglobulins that function poorly.[2][3] Other symptoms are:[4]
Cause
Genetically speaking, Nezelof syndrome is autosomal recessive. the condition is thought to be a variation of severe combined immunodeficiency (SCID).[3] However, the precise cause of Nezelof syndrome remains uncertain[5]
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[6] Hassal's corpuscles[7] absence in thymus(atrophy) has an effect on T-cells.[5]
Diagnosis
The diagnosis of Nezelof syndrome will indicate a deficiency of T-cells,[8] additionally in ascertaining the condition the following is done:[5][9]
- Blood test (B-cells 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[5][3]
Treatment
In terms of treatment for individuals with Nezelof syndrome, which was first characterized in 1964,[10] includes the following (effectiveness of bone marrow transplant is uncertain[9]) :
- Antimicrobial therapy[11]
- IV immunoglobulin[11]
- Bone marrow transplantation[11]
- Thymus transplantation[11]
- Thymus factors[11]
See also
References
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- ↑ Online Mendelian Inheritance in Man (OMIM): 242700
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Further reading
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External links
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