Nezelof syndrome | |
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Other names | Thymic dysplasia with normal immunoglobulins [1] : 85 |
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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] |
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 ]
This condition causes severe infections. it is characterized by elevated immunoglobulins that function poorly. [7] [8] Other symptoms are: [2]
Genetically speaking, Nezelof syndrome is autosomal recessive. the condition is thought to be a variation of severe combined immunodeficiency (SCID). [8] However, the precise cause of Nezelof syndrome remains uncertain [3]
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 [9] Hassal's corpuscles [10] absence in thymus(atrophy) has an effect on T-cells. [3]
The diagnosis of Nezelof syndrome will indicate a deficiency of T-cells, [11] additionally in ascertaining the condition the following is done: [3] [4]
The differential diagnosis for this condition consists of acquired immune deficiency syndrome and severe combined immunodeficiency syndrome [3] [8]
In terms of treatment for individuals with Nezelof syndrome, which was first characterized in 1964, [12] includes the following (effectiveness of bone marrow transplant is uncertain [4] ) :
Nezelof syndrome diagnosis.