FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 108 ID (Ontology) DOID:0061077 (Human Disease)
Definition A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11.
Also Known As "immunodeficiency 108 with autoinflammation"
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 Genes
 immunodeficiency 108       1
 for disease ribbon | immunodeficiency 108       1
 model of | immunodeficiency 108       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
immune system disease                 |
 |__primary immunodeficiency disease__|
                                      immunodeficiency 108  1 rec.
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Is a autosomal recessive disease
primary immunodeficiency disease
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Synonyms
  • "immunodeficiency 108 with autoinflammation" EXACT
Secondary IDs
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MIM:260570