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Bruton type agammaglobulinemia MeSH Supplementary Concept Data 2023


MeSH Supplementary
Bruton type agammaglobulinemia
Unique ID
C537409
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537409
Entry Term(s)
Agammaglobulinemia, BTK
Agammaglobulinemia, Bruton tyrosine kinase
Agammaglobulinemia, X-Linked
Agammaglobulinemia, X-Linked, Type I
Bruton's Agammaglobulinemia
Bruton-Type Agammaglobulinemia
Bruton-type (congenital X-linked) agammaglobulinemia
Congenital Agammaglobulinemia
Immunodeficiency 1
X-linked agammaglobulinemia
Registry Number
0
Heading Mapped to
*Agammaglobulinemia
*Genetic Diseases, X-Linked
Frequency
330
Note
A hereditary immunodeficiency due to the failure of B-LYMPHOCYTES to mature and rearrangement failure of IG HEAVY CHAINS. Mutations in Agammaglobulinaemia tyrosine kinase (BTK gene) can cause X-linked AGAMMAGLOBULINEMIA type 1 (XLA). OMIM: 300755
Date of Entry
2010/08/25
Revision Date
2015/08/17
Bruton type agammaglobulinemia Preferred
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