CD40 Ligand Deficiency

Preferred Label : CD40 Ligand Deficiency;

NCIt synonyms : DC40 Ligant Deficiency;

NCIt definition : Patients with the X-linked hyper IgM syndrome have a deficiency of a protein, CD40 ligand that is found on the surface of T-lymphocytes. As a consequence of the deficiency of this protein, their T-lymphocytes are unable to instruct B-lymphocytes to switch their production of gamma globulins from IgM to IgG and IgA. As a result, patients have decreased levels of IgG and IgA and normal or elevated levels of IgM. In addition, since CD40 ligand is important to other functions of T-lymphocytes, they also have a defect in some of the protective functions of their T-lymphocytes.;

Details

Origin ID

C61244;

UMLS CUI

C2348037;

Currated CISMeF NLP mapping
- CD40 ligand deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CD40 ligand deficiency [DO Concept]
disease_mapped_to_gene
- CD40LG Gene [NCIt concept]
related_to_genetic_biomarker
- CD40LG Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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