Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene : A Case Report

Keyphrases

• Chromosome 4 100%
• Common Variable Immunodeficiency 100%
• Developmental Delay 100%
• NF1 Gene 100%
• Array Comparative Genomic Hybridization (aCGH) 80%
• NFKB1 60%
• Human Disease 40%
• Haploinsufficiency 40%
• Congenital Immunodeficiency 40%
• Chromosomal Aberrations 20%
• Next-generation Sequencing 20%
• Genetic Basis 20%
• Heterogeneous Groups 20%
• Immune System 20%
• Clinical Phenotype 20%
• Genetic Studies 20%
• Chromosomal Rearrangements 20%
• Malformation 20%
• Non-immune 20%
• Immunodeficiency 20%
• Immunological Abnormalities 20%
• Vaccine Response 20%
• Dysmorphic Features 20%
• Complex Phenotypes 20%
• Genetic Causes 20%
• Hypogammaglobulinemia 20%
• Memory B Cells 20%
• Immune Organs 20%
• High-throughput Technologies 20%
• Inborn Errors of Immunity 20%
• Antibody Deficiency 20%
• Monogenic Defects 20%

Biochemistry, Genetics and Molecular Biology

• Array Comparative Genomic Hybridization 100%
• Chromosome 4 100%
• NFKB1 100%
• Genetics 75%
• Haploinsufficiency 50%
• Chromosomal Aberration 25%
• Next Generation Sequencing 25%
• Chromosomal Rearrangement 25%
• Immunity 25%
• Memory B Cell 25%

Immunology and Microbiology

• Common Variable Immunodeficiency 100%
• Chromosome 4 100%
• Array Comparative Genomic Hybridization 80%
• Immunodeficiency 60%
• Haploinsufficiency 40%
• Memory B Cell 20%
• Next Generation Sequencing 20%
• Humoral Immune Deficiency 20%
• Primary Immunodeficiency 20%
• Immunopathology 20%
• Hypogammaglobulinemia 20%
• Immunity 20%