Conditions / Immune
immunodeficiency 38
info · Immune
A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene
A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33.
Signs and symptoms
- Basal ganglia calcification
- BCGitis
- Recurrent mycobacterial infections
- Lymphadenopathy
- Seizure
- Immunodeficiency
- Axillary lymphadenopathy
- Inguinal lymphadenopathy
- Neurodevelopmental abnormality
- Severe viral infection
Also known as: IMD38; Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency; autosomal recessive ISG15 deficiency; immunodeficiency 38 with basal ganglia calcification; immunodeficiency 38, mycobacteriosis, autosomal recessive