Global Variome shared LOVD

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Phenotype #0000083720 Individual ID 00105824 Associated disease IMD Phenotype details see paper; ..., failure to thrive, adrenal insufficiency, infancy-inflammatory enterocolitis, 9m-recurrent respiratory tract infections, intermittent mucocutaneous candidiasis, recurrent herpes simplex virus stomatitis, 3x varicella-zoster virus infections, visible thymus, normal immunoglobulin isotypes with poor response to vaccines, persistent CD81 lymphocytopenia (0.01-0.03 total T-cells age-adjusted reference range); older brother died at 16m from suspected viral encephalitis Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 33y (33 years) Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-06-24 18:29:22 +02:00 (CEST) Date last edited N/A

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