Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature.
BACKGROUND
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.


METHODS
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.


CONCLUSIONS
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.
Gazit
Yael
Y
Kipper Institute of Allergy and Immunology, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel.
Mory
Adi
A
Etzioni
Amos
A
Frydman
Moshe
M
Scheuerman
Oded
O
Gershoni-Baruch
Ruth
R
Garty
Ben-Zion
BZ
D000328:Adult; D001321:Autistic Disorder; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005317:Fetal Growth Retardation; D020022:Genetic Predisposition to Disease; D006801:Humans; D008607:Intellectual Disability; D007557:Israel; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D009504:Neutrophils / Q000473:pathology; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic
D009004:Monosaccharide Transport Proteins; C426650:SLC35C1 protein, human