Nezelof syndrome
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Nezelof syndrome is an autosomal recessive[6] 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.[medical citation needed]
Quick Facts Other names, Specialty ...
Nezelof syndrome | |
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Other names | Thymic dysplasia with normal immunoglobulins[1]:ā85ā |
Autosomal recessive is the manner in which this condition is inherited | |
Specialty | Immunology |
Symptoms | Hepatosplenomegaly[2] |
Causes | Currently unknown[3] |
Diagnostic method | Blood test[3][4] |
Treatment | Antimicrobial therapy, IV immunoglobulin[5] |
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