Conditions / Immune
immunodeficiency 54
info · Immune
A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound
A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21.
Signs and symptoms
- Adrenal insufficiency
- Recurrent viral infections
- Intrauterine growth retardation
- Reduced total natural killer cell count
- Short stature
- Caesarean section
- Mild global developmental delay
- Microcephaly
- Failure to thrive
- Hyperpigmentation of the skin
Also known as: IMD54; NKCD; familial isolated natural killer cell deficiency; primary immunodeficiency due to MCM4 deficiency; primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency