Genetic workup as a complementary tool for the diagnosis of primary complement component deficiencies: a multicenter experience

Keyphrases

• Complementary Tools 100%
• Complement Deficiency 100%
• Complement Component Deficiency 100%
• Medical Center 66%
• Meningococcal Infection 66%
• Complement System 66%
• Israel 33%
• Jerusalem 33%
• Genetic mutation 33%
• Childrens 33%
• Delayed Diagnosis 33%
• Risk Perception 33%
• Lily 33%
• Clinical Manifestations 33%
• Proper Treatment 33%
• Meningitis 33%
• Diagnosis Treatment 33%
• Consanguinity 33%
• Whole Exome Sequencing 33%
• Novel mutation 33%
• Prompt Diagnosis 33%
• Diagnostic Work-up 33%
• High Index of Suspicion 33%
• New Genetics 33%
• Electronic Health Record System 33%
• Coding Exons 33%
• Gene-based 33%
• Inborn Errors 33%
• Complement Components 33%
• Complement Pathway 33%
• Absent Levels 33%
• CH50 33%
• Terminal Complement Component 33%
• Meningococcemia 33%
• Invasive Pneumococcal Disease 33%
• Retrospective multicenter Study 33%

Immunology and Microbiology

• Complement Deficiency 100%
• Complement System 50%
• Complement 50%
• Medical Record 25%
• Awareness 25%
• Gene Mutation 25%
• Whole Exome Sequencing 25%
• Lily 25%
• Meningitis 25%
• Exon 25%
• Consanguinity 25%