Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0034067 (
emphysema
)
11,506
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The identification of a
Btk
mutation in a male patient with <2% CD19(+) B cells warrants making the diagnosis of X-linked Agammaglobulinemia (XLA). Herein we report the case of a 31 year-old male with a gradual decline of peripheral B lymphocytes and low IgA and IgM but normal IgG levels. His clinical history revealed recurrent respiratory and skin infections, sclerosing cholangitis and chronic obstructive pancreatitis. Molecular studies revealed a novel aminoacidic substitution in
Btk
protein (T316A). His mother, maternal aunts and a maternal female cousin were heterozygotes for the same
Btk
mutation and were variably affected with pulmonary
emphysema
. This is a puzzling case where the patient's clinical history and laboratory findings divorce molecular genetics. Either this case confirms the variable expressivity of XLA disease or the T316A change in
Btk
SH2 domain is a novel non-pathogenic mutation and another unknown gene alteration is responsible for the disease.
...
PMID:Identification of a Btk mutation in a dysgammaglobulinemic patient with reduced B cells: XLA diagnosis or not? 1861 43
