Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5

Keyphrases

• Netherton Syndrome 100%
• SPINK5 100%
• Hyper-IgE Syndrome 100%
• Eczema 50%
• Ichthyosis Linearis Circumflexa 50%
• Splicing mutation 25%
• Autosomal Recessive 25%
• Genetic Basis 25%
• Serine Protease Inhibitor 25%
• Allergy 25%
• Asthma 25%
• Patient-specific Therapy 25%
• Genetic Test 25%
• Kazal Type 25%
• Early Presentation 25%
• Hypereosinophilia 25%
• IgE Levels 25%
• Acitretin 25%
• Trichorrhexis Invaginata 25%

Medicine and Dentistry

• Netherton Syndrome 100%
• Hyper IgE Syndrome 100%
• Ichthyosis 50%
• Eczema 50%
• Serine Proteinase Inhibitor 25%
• Disease Predisposition 25%
• Autosomal Recessive Disorder 25%
• Allergic Asthma 25%
• Diagnostic Error 25%
• Hypereosinophilia 25%
• Immunoglobulin E 25%
• Etretin 25%
• Trichorrhexis invaginata 25%

Biochemistry, Genetics and Molecular Biology

• Immunoglobulin E 100%
• Genetics 33%
• Splice Site Mutation 33%
• Autosomal Recessive Disorder 33%
• Genetic Test 33%
• Serine Protease Inhibitor 33%