Conditions / Immune
immunodeficiency 29
info · Immune
A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chrom
A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3.
Signs and symptoms
- BCGitis
- Immunodeficiency
Also known as: IL12B deficiency; IMD29; MSMD due to complete IL12B deficiency; MSMD due to complete interleukin 12B deficiency; Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency