Nezelof syndrome

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]}

Nezelof syndrome
Other names	Thymic dysplasia with normal immunoglobulins[1]: 85
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]

Symptoms and signs

This condition causes severe infections. it is characterized by elevated immunoglobulins that function poorly.^[7][8] Other symptoms are:^[2]

• 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).^[8] However, the precise cause of Nezelof syndrome remains uncertain^[3]

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^[9] Hassal's corpuscles^[10] absence in thymus(atrophy) has an effect on T-cells.^[3]

Diagnosis

Human Thymus

The diagnosis of Nezelof syndrome will indicate a deficiency of T-cells,^[11] additionally in ascertaining the condition the following is done:^[3][4]

• 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^[3][8]

Treatment

Bone marrow for transplant

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]) :

• Antimicrobial therapy^[5]
• IV immunoglobulin^[5]
• Bone marrow transplantation^[5]
• Thymus transplantation^[5]
• Thymus factors^[5]

See also

• List of radiographic findings associated with cutaneous conditions