immunodeficiency 42

A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3.

Signs and symptoms

• BCGosis
• Recurrent oral thrush
• Hypoplasia of the thymus
• Recurrent cutaneous fungal infections
• Hepatomegaly
• Splenomegaly
• Recurrent aphthous stomatitis

Also known as: IMD42; autosomal recessive MSMD due to complete RORgamma receptor defiency; autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency; autosomal recessive primary immunodeficiency due to RORC mutation