immunodeficiency 20

info · Immune

A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3.

Signs and symptoms

BCGitis
Wheezing
Recurrent sinusitis
Severe varicella zoster infection
Abnormal natural killer cell physiology
Recurrent viral upper respiratory tract infections
Recurrent otitis media
Recurrent oral herpes
Recurrent respiratory infections
Immunodeficiency

Also known as: CD16 deficiency; IMD20; autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity; autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity