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
The diagnosis of Nezelof syndrome will indicate a deficiency of
T-cells,[11] additionally in ascertaining the condition the following is done:[3][4]
In terms of treatment for individuals with Nezelof syndrome, which was first characterized in 1964,[12] includes the following(how effective bone marrow transplant is uncertain[4]) :
^Nezelof, C.; Jammet, M. L.; Lortholary, P.; Labrune, B.; Lamy, M. (October 1964). "Hereditary Thymic Hypoplasia: ITS Place and Responsibility in a Case of Lymphocytic, Normoplasmocytic and Normoglobulinemic Aplasia in an Infant". Archives Françaises de Pédiatrie. 21: 897–920.
ISSN0003-9764.
PMID14195287.