Roifman-Chitayat syndrome (ROCHIS) is a combined immunodeficiency, characterized by facial dysmorphism, optic nerve atrophy, skeletal anomalies, myoclonic seizures, and substantial developmental delays. It has been reported that dual loss of PIK3CD and KNSTRN expression causes this syndrome.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Primary immunodeficiencies
4A01 Primary immunodeficiencies due to disorders of adaptive immunity
H02585 Roifman-Chitayat syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06515 Regulation of kinetochore-microtubule interactions
H02585 Roifman-Chitayat syndrome
Immune system
nt06537 TCR/BCR signaling
H02585 Roifman-Chitayat syndrome
