Printable factfile
Defects in NRAS are a cause of juvenile myelomonocytic leukemia (JMML) [mim:607785]. JMML is a pediatric myelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome (MDS) and 2% of leukemia. NRAS mutations leads to key features resembling ALPS and hematopoietic malignancies.
Alternative names
ALPS3
NRAS deficiency
Classification
- Defects in lymphocyte apoptosis
- Autoimmune lymphoproliferative syndrome
Inheritance
Autosomal dominant/Autosomal recessive
Cross references
Phenotypically related immunodeficiencies
IDR factfile for Apoptosis mediator APO-1/Fas defects
IDR factfile for APO-1 ligand/Fas ligand defects
IDR factfile for Autoimmune lymphoproliferative syndrome type II
Incidence
Incidence unknown.