title: Nezelof syndrome
text: # 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
  