FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 22 ID (Ontology) DOID:0111937 (Human Disease)
Definition A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2.
Also Known As "IMD22" ; "SCID due to LCK deficiency" ; "SCID due to lymphocyte-specific protein tyrosine kinase deficiency" (for all, see Synonyms field below)
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 Genes
 immunodeficiency 22       1
 for disease ribbon | immunodeficiency 22       1
 model of | immunodeficiency 22       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
combined immunodeficiency             |
 |__severe combined immunodeficiency__|
                                      immunodeficiency 22  1 rec.
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Is a autosomal recessive disease
severe combined immunodeficiency
Part of
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Synonyms
  • "IMD22" EXACT OMO:0003012
    "SCID due to LCK deficiency" EXACT
    "SCID due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT
    "severe combined immunodeficiency due to LCK deficiency" EXACT
    "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT
Secondary IDs
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MIM:615758
NCI:C176808
ORDO:280142
UMLS_CUI:C4014233