Vici et al reported a rare form of primary immunodeficiency. Its effects can be detected in the antenatal period.
Chromosome: 18q12.3-q21.1
Gene affected: EPG5 (ectopic P-granules protein 5)
Function: regulation of autophagy activity
Inheritance: autosomal recessive
Clinical features:
(1) agenesis of the corpus callosum
(2) bilateral congenital cataracts
(3) cardiomyopathy
(4) combined immunodeficiency
(5) developmental delay
(6) cutaneous hypopigmentation
(7) variable hearing loss
(8) variable cleft palate
(9) variable seizures
(10) variable hypoplasia of the cerebellar vermis
(11) recurrent pneumonia
The combined immunodeficiency is associated with:
(1) severe hypoplasia of thymus and lymphoid tissues
(2) depletion of CD4 positive T cells
(3) decreased serum IgG
