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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2010-4-26
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pubmed:abstractText |
Kostmann disease is a rare autosomal recessive form of severe congenital neutropenia characterized by maturation arrest at the stage of promyelocytes/myelocytes in bone marrow with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/L and severe recurrent bacterial infections from early infancy. Kostmann disease is caused by homozygous mutations in the gene encoding the mitochondrial protein HCLS1-associated X1. Here, we report three patients with Kostmann disease who, besides recurrent infections, have developmental delay.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1432-1076
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
169
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
759-62
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pubmed:meshHeading |
pubmed-meshheading:20177699-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:20177699-Age of Onset,
pubmed-meshheading:20177699-Child, Preschool,
pubmed-meshheading:20177699-Consanguinity,
pubmed-meshheading:20177699-Developmental Disabilities,
pubmed-meshheading:20177699-Female,
pubmed-meshheading:20177699-Granulocyte Colony-Stimulating Factor,
pubmed-meshheading:20177699-Humans,
pubmed-meshheading:20177699-Immunologic Deficiency Syndromes,
pubmed-meshheading:20177699-Infant,
pubmed-meshheading:20177699-Male,
pubmed-meshheading:20177699-Neutropenia,
pubmed-meshheading:20177699-Syndrome,
pubmed-meshheading:20177699-Turkey
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pubmed:year |
2010
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pubmed:articleTitle |
Kostmann disease with developmental delay in three patients.
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pubmed:affiliation |
Dr. Sami Ulus Children's Health and Diseases Training and Research Center, 06080 Ankara, Turkey. caneraytekin@yahoo.com
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pubmed:publicationType |
Journal Article,
Case Reports
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