FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 72 ID (Ontology) DOID:0112015 (Human Disease)
Definition A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2.
Also Known As "immunodeficiency 72 with autoinflammation"
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 Genes
 immunodeficiency 72       1
 for disease ribbon | immunodeficiency 72       1
 model of | immunodeficiency 72       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease___
primary immunodeficiency disease  |
 |__combined immunodeficiency_____|
                                  immunodeficiency 72  1 rec.
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Is a autosomal recessive disease
combined immunodeficiency
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Synonyms
  • "immunodeficiency 72 with autoinflammation" EXACT
Secondary IDs
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MIM:618982