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. nezelof syndromeother namesthymic dysplasia with normal immunoglobulins: 85 autosomal recessive is the manner in which this condition is inheritedspecialtyimmunology symptomshepatosplenomegalycausescurrently unknowndiagnostic methodblood testtreatmentantimicrobial therapy, iv immunoglobulin 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 human thymus 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 bone marrow for transplant 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