Document Detail

Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature.
MedLine Citation:
PMID:  20099014     Owner:  NLM     Status:  MEDLINE    
INTRODUCTION: Leukocyte adhesion deficiency (LAD) is a group of rare inherited disorders characterized by immune deficiency and peripheral neutrophilia. There are only seven reported cases of LAD type II worldwide, and no long-term follow-up data. CASE REPORT: We reviewed the medical file of a 20-year-old man with LAD II. Clinical characteristics included short stature, severe mental retardation, and autistic features. He had had no severe infections since infancy, and his current immunological status was stable. The last laboratory work-up revealed mild leukocytosis and neutrophilia. Genetic analysis of the Golgi GDP-fucose transporter (GFTP) sequence yielded a point mutation resulting in Y337C amino acid transition in the tenth transmembrane domain. CONCLUSION: In conclusion, in LAD II, the main clinical countenance shifts from frequent infections due to immunodeficiency in the early years to the metabolic consequences of the defect in fucose metabolism, i.e., retarded growth and mental retardation, in the later years. A novel mutation in the GFTP loci associated with LAD II is described.
Yael Gazit; Adi Mory; Amos Etzioni; Moshe Frydman; Oded Scheuerman; Ruth Gershoni-Baruch; Ben-Zion Garty
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Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2010-01-23
Journal Detail:
Title:  Journal of clinical immunology     Volume:  30     ISSN:  1573-2592     ISO Abbreviation:  J. Clin. Immunol.     Publication Date:  2010 Mar 
Date Detail:
Created Date:  2010-03-22     Completed Date:  2010-09-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8102137     Medline TA:  J Clin Immunol     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  308-13     Citation Subset:  IM    
Kipper Institute of Allergy and Immunology, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel.
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MeSH Terms
Autistic Disorder
DNA Mutational Analysis
Fetal Growth Retardation
Genetic Predisposition to Disease
Leukocyte-Adhesion Deficiency Syndrome / diagnosis*,  genetics*,  pathology,  physiopathology*
Mental Retardation
Monosaccharide Transport Proteins / genetics*
Neutrophils / pathology
Point Mutation / genetics*
Polymorphism, Genetic
Reg. No./Substance:
0/Monosaccharide Transport Proteins; 0/SLC35C1 protein, human

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