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A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction
Author(s) -
Martens D. H. J.,
Kuijpers T. W.,
Maianski N. A.,
Rake J. P.,
Smit G. P. A.,
Visser G.
Publication year - 2006
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-006-0146-x
Subject(s) - neutropenia , glycogen storage disease , glycogen storage disease type i , medicine , congenital neutropenia , immunology , disease , inflammatory bowel disease , gastroenterology , chemotherapy
Summary We describe a 16‐year old boy with glycogen storage disease type Ib, homozygous for the common 1211–1212delCT mutation, who never experienced neutropenia, and did not suffer from frequent infections or inflammatory bowel disease. In addition, neutrophil function tests showed no abnormalities.