severe combined immunodeficiency 124

info · Genetic

A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35.

Signs and symptoms

Pleural thickening
Autoimmune hemolytic anemia
Hemophagocytosis
Bone marrow hypocellularity
Bilateral ptosis
Ground-glass opacification
Decreased naive T cell proportion
Otitis media with effusion
Cough
Methicillin-resistant Staphylococcus aureus infection