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:C0026986 (
myelodysplastic syndrome
)
14,926
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
X-linked agammaglobulinemia
(
XLA
) is a rare disorder in which recurrent infections occur due to low serum globulins and circulating B lymphocytes caused by a mutation in the Bruton tyrosine kinase (Btk) gene. While
myelodysplastic syndrome
(
MDS
) associated with low B lymphocyte counts has been described, clonal cytogenetic abnormalities in confirmed cases of
XLA
have never been reported. We describe a case of
XLA
with a novel Btk mutation who also had a persistent clonal population in the bone marrow with abnormal cytogenetics in multiple chromosomes that resolved 1(1/2) years after treatment with IVIG, mimicking a picture of transient
MDS
.
...
PMID:Transient myelodysplastic syndrome in X-linked agammaglobulinemia with a novel Btk mutation. 1872 17
