immunodeficiency 49

A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation

A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2.

Signs and symptoms

• Decreased naive CD4+ T cell proportion
• Seizure
• Agenesis of corpus callosum
• Hypotonia
• Abnormally low T cell receptor excision circle level
• Impaired phytohemagglutinin-induced T lymphocyte transformation
• Intellectual disability
• Psoriasiform dermatitis
• Pulmonary artery stenosis
• Decreased total T cell count

Also known as: IMD49; SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities; severe combined immunodeficiency 49; severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities