Nezelof syndrome
# 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-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

## 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
