immunodeficiency 64

A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early child

A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14.

Signs and symptoms

• Recurrent lower respiratory tract infections
• Increased circulating IgM concentration
• Autoimmune hemolytic anemia
• Antinuclear antibody positivity
• Cervical lymphadenopathy
• Decreased total CD4+ T cell proportion
• Increased CD21low B cell proportion
• Mediastinal lymphadenopathy
• Failure to thrive
• Recurrent infections

Also known as: IMD64