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Metadata
DOID DOID:14179
Name Bruton-type agammaglobulinemia
Definition A B cell deficiency that is that has material basis in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.
http://en.wikipedia.org/wiki/X-linked_agammaglobulinemia, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300755, http://www.ncbi.nlm.nih.gov/gene/695?, http://www.nlm.nih.gov/medlineplus/ency/article/001307.htm
Xrefs

MESH:C537409

MTHICD9_2006:279.04

NCI2004_11_17:C3822

NCI:C3822

OMIM:300310

OMIM:300755

ORDO:47

SNOMEDCT_US_2018_03_01:65880007

UMLS_CUI:C0221026

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Bruton agammaglobulinemia tyrosine kinase deficiency [EXACT]

Bruton's agammaglobulinaemia [EXACT]

Bruton's Sex-Linked Agammaglobulinemia [EXACT]

Bruton's type agammaglobulinemia [EXACT]

BTK deficiency [EXACT]

X-linked agammaglobulinemia [EXACT]

Relationships

is_a agammaglobulinemia

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