Since the advent of imatinib, GIST has been further delineated into adult- (KIT or PDGFRα mutations) and pediatric- (typified by wild-type GIST/succinate dehydrogenase deficiencies) types.
Defective synthesis of the sialyl-lewis X antigen results in immunodeficiency (leukocyte adhesion deficiency type 2) [44] 44].
This indicates that the synthesized HA is calcium deficiency type [27], which will lead to reduction in the hardness, elastic modulus, and toughness in nHAC.
To describe the application of preimplantion genetic diagnosis (PF to a carrier couple for leukocyte adhesion deficiency type I disease (LAD-1), to achieve a healthy pregnancy.
IL-23, one member of the IL-12 cytokine family, is crucial in the pathogenesis of psoriasis, experimental autoimmune encephalomyelitis (EAE), collagen-induced arthritis (CIA), inflammatory bowel disease (IBD) (Tonel et al., 2010; Teng et al., 2015) and leukocyte adhesion deficiency type 1 (LAD1) (Moutsopoulos et al., 2017).
Patients with leukocyte adhesion deficiency type III (LAD III) harbor a mutation in the KINDLIN3 gene which inhibits the activation of members of the β1, β2, and β3 integrin families [57].
Sequenom® MassARRAY® (Sequenom®, Hamburg Germany) was used to genotype the following SNPs according to manufacturer's instructions: Haptoglobin promoter SNP's A-61C (rs5471) and C-101G (rs5470), HbS (rs334: haemoglobin sickle), plus the A-376G (rSNP50829) SNP in G6PD (glucose-6-phosphate dehydrogenase) resulting in mild enzyme deficiency, type A phenotype [40].
New terms are generated by replacing Arabic with Roman numbers (Adenylosuccinate lyase deficiency type 4 by Adenylosuccinate lyase deficiency type IV ).
Familial glucocorticoid deficiency type 2, in contrast, presents earlier and appropriate treatment may be sufficient to prevent the enhanced growth rate seen in familial glucocorticoid deficiency type 1.
Some conditions may present with androgenisation during childhood (e.g., 11β-hydroxylase deficiency) or at adolescence (e.g., 17β-hydroxysteroid dehydrogenase deficiency type 3; 5α-reductase deficiency type 2).
