X-linked agammaglobulinemia

URI: https://gptkb.org/entity/X-linked_agammaglobulinemia
GPTKB entity
Statements (33)
Predicate Object
gptkbp:instanceOf gptkb:genetic_disorder
gptkb:primary_immunodeficiency_disease
gptkbp:affects males almost exclusively
gptkbp:affectsImmuneSystemComponent gptkb:B_lymphocytes
gptkbp:alsoKnownAs gptkb:Bruton_agammaglobulinemia
gptkbp:characterizedBy absence of mature B cells
very low levels of immunoglobulins
gptkbp:complication autoimmune disorders
chronic lung disease
enteroviral infections
gptkbp:diagnosedBy flow cytometry for B cells
genetic testing for BTK mutation
low immunoglobulin levels
gptkbp:firstDescribed gptkb:Ogden_Bruton
1952
gptkbp:hasOrphanetID ORPHA:52
gptkbp:ICD-10_code D80.0
gptkbp:inheritance X-linked recessive
gptkbp:MeSH_ID D001684
gptkbp:mutationAssociatedWith gptkb:BTK_gene
gptkbp:namedAfter gptkb:Ogden_Bruton
gptkbp:OMIM 300755
gptkbp:prevalence 1 in 200,000 live births
gptkbp:symptom gptkb:sinusitis
gptkb:pneumonia
gptkb:otitis_media
meningitis
recurrent bacterial infections
gptkbp:treatment immunoglobulin replacement therapy
antibiotics for infections
gptkbp:bfsParent gptkb:Xq28
gptkbp:bfsLayer 6
https://www.w3.org/2000/01/rdf-schema#label X-linked agammaglobulinemia