immunodeficiency 58

A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, r

A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1.

Signs and symptoms

• Failure to thrive
• Psoriasiform lesion
• Recurrent cutaneous abscess formation
• Muscle spasm
• Nasal congestion
• Recurrent aphthous stomatitis
• Eczematoid dermatitis
• Dysphagia
• Esophagitis
• Recurrent respiratory infections

Also known as: IMD58; severe combined immunodeficiency due to CARMIL2 deficiency