| Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature. | |
| | |
MedLine Citation:
|
PMID: 20099014 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
Yael Gazit; Adi Mory; Amos Etzioni; Moshe Frydman; Oded Scheuerman; Ruth Gershoni-Baruch; Ben-Zion Garty |
Related Documents
:
|
816694 - Biochemical and haematological aspects of anaemia associating protein energy malnutriti... 6831794 - Hereditary lecithin-cholesterol acyltransferase deficiency. report of 2 new cases and r... 9317084 - Primary biliary cirrhosis associated with mixed type autoimmune hemolytic anemia and si... 3399084 - Basal ganglia calcifications in a case of biotinidase deficiency. 2766144 - Femoral appendicitis: an unusual case. 20854194 - Hair highlights and severe acute irritant dermatitis ("burn") of the scalp. |
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 |
Affiliation:
|
Kipper Institute of Allergy and Immunology, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Autistic Disorder Consanguinity DNA Mutational Analysis Fetal Growth Retardation Genetic Predisposition to Disease Humans Israel Leukocyte-Adhesion Deficiency Syndrome / diagnosis*, genetics*, pathology, physiopathology* Male Mental Retardation Monosaccharide Transport Proteins / genetics* Neutrophils / pathology Pedigree Point Mutation / genetics* Polymorphism, Genetic |
| Chemical | |
Reg. No./Substance:
|
0/Monosaccharide Transport Proteins; 0/SLC35C1 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Distinct Phenotype of Unrestricted Cytotoxic T lymphocytes from Human Immunodeficiency Virus-infecte...
Next Document: Nicotine dependence and problem behaviors among urban South African adolescents.