Immunoglobulin deficiency associated with a MAP2K1-related mutation causing cardio-facio-cutaneous syndrome

MeSH terms

• Adult
• Child, Preschool
• Common Variable Immunodeficiency / diagnosis*
• Common Variable Immunodeficiency / genetics
• Ectodermal Dysplasia / diagnosis*
• Ectodermal Dysplasia / genetics
• Facies
• Failure to Thrive / diagnosis*
• Failure to Thrive / genetics
• Female
• Heart Defects, Congenital / diagnosis*
• Heart Defects, Congenital / genetics
• High-Throughput Nucleotide Sequencing
• Humans
• Immunoglobulins / genetics*
• MAP Kinase Kinase 1 / genetics*
• Male
• Mutation / genetics*
• Young Adult