FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 99 ID (Ontology) DOID:0061069 (Human Disease)
Definition A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11.
Also Known As "immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias"
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 Genes
 immunodeficiency 99       1
 for disease ribbon | immunodeficiency 99       1
 model of | immunodeficiency 99       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__________________
combined immunodeficiency                        |
 |__combined T cell and B cell immunodeficiency__|
                                                 immunodeficiency 99  1 rec.
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Is a autosomal recessive disease
combined T cell and B cell immunodeficiency
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Synonyms
  • "immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias" EXACT
Secondary IDs
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MIM:619846