Nezelof syndrome is a hereditary primary immunodeficiency state caused by thymic dysplasia, lack of T cell function and normal levels of immunoglobulins.
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Epidemiology
Nezelof syndrome is extremely rare.
Clinical presentation
Common clinical features include 4,5
failure to thrive
chronic diarrhea
cutaneous manifestations of eczema-like rash and pyoderma
recurrence of bronchopulmonary infections (Pseudomonas and Candida)
prone to viral infections
lymphopenia
Pathology
Abnormal CD44 expression is postulated to interfere with normal thymocyte and epithelial cell interaction leading to abnormal thymocyte differentiation. With a dysplastic thymus, there is consequent severe combined immunodeficiency.
Nezelof features an autosomal recessive pattern of inheritance, although there are some X-linked reports.
History and etymology
This genetic disorder was first reported by French pediatrician C Nezelof in 1964 3,4.
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