Abstract:
:Leukocyte adhesion deficiency (LAD) is a recessive autosomal disease characterized by life-threatening recurrent bacterial infections, by defective functions of leukocytes and by deficient membrane expression of leukocyte adhesion glycoproteins. These proteins, LFA-1, Mac-1 and p150,95, are alpha 1/beta 1 heterodimers composed of different alpha chains and of a common beta chain. Patients with the severe phenotype of the disease completely lack the three glycoproteins on cell surface. Previous studies showed a conserved synthesis of the LFA-1 alpha chain precursor in cytosol of patients' cells and an inconstant presence of the beta chain precursor. When present, precursors are in free form and not associated to alpha/beta complexes in the cells of patients with the severe phenotype. The availability of the beta chain cDNA probe allowed us to examine the beta chain gene expression in the lymphoblastoid cell lines of 4 patients. On the basis of the results obtained both at protein and RNA levels we can distinguish 3 types of mutations characterized by (a) barely detectable beta subunit messenger RNA and undetectable beta precursor, (b) decreased level of beta subunit mRNA and undetectable beta precursor and (c) normal beta subunit mRNA level and detectable beta precursor of normal size.
journal_name
Eur J Immunoljournal_title
European journal of immunologyauthors
Dimanche-Boitrel MT,Guyot A,De Saint-Basile G,Fischer A,Griscelli C,Lisowska-Grospierre Bdoi
10.1002/eji.1830181016subject
Has Abstractpub_date
1988-10-01 00:00:00pages
1575-9issue
10eissn
0014-2980issn
1521-4141journal_volume
18pub_type
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