Phenotype #0000270814

Individual ID	00375600
Associated disease	?
Diagnosis/Initial	multisystem disorder, recurring autoinflammation
Diagnosis/Definite	-
Phenotype details	alive; uncomplicated pregnancy; birth in Iraq; muscular hypotonia; developmental delay; dystrophy; no postnatal short stature; progredient microcephaly; frontal cerebral volume reduction, thin corpus callosum; epilepsy; impaired fixation/reaction; elevated transaminases; no cardiac anomalies; Herpes-encephalitis; inflammatory arthritis hip, elbow; recurring fever episodes with high MRP (Myeloid-related proteins) and clinical inflammation; satisfactory response to steroids, very good clinical response to Anakinra (IL-1 blockade); constantly elevated CRP, thrombocytosis, massively elevated calgranulins (S100 A8/A9: 48.000 ng/ml max; after Anakinra: 7960 ng/ml); elevated lactate
Inheritance	Familial, autosomal recessive
Age/Examination	3y7m (3 years, 7 months)
Age/Diagnosis	-
Age/Onset	56d
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-06-12 22:50:35 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD