immunodeficiency 99

Term ID

DOID:0061069

Synonyms

immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias

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. https://pubmed.ncbi.nlm.nih.gov/32484799/

References

MIM:619846

Ontology

Human Disease ( DOID:0061069 )

Relationships

is a type of: autosomal recessive disease combined T cell and B cell immunodeficiency

autosomal recessive disease combined T cell and B cell immunodeficiency Show first 5 Terms

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Genes Involved

Zebrafish Models