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134 Part II Cellular Basis of Hematology

TABLE Genetic Deficiencies in Adhesion Molecules
12.6
Molecule Disease Laboratory Finding(s) Clinical Finding(s)
Glanzmann thrombasthenia Impaired platelet aggregation Mucocutaneous bleeding
α IIb β 3
GPIb–IX–V Bernard–Soulier syndrome Impaired platelet adhesion to vWF Mucocutaneous bleeding
β2 integrins Leukocyte adhesion deficiency-1 Impaired adhesion of activated leukocytes to EC Frequent infections
Selectin ligands Leukocyte adhesion deficiency-2 Impaired fucose metabolism resulting in defective Frequent infections
carbohydrate ligands for selectins, impaired
rolling of leukocytes on venules
β1, β2, β3 integrins Leukocyte adhesion deficiency-3 Impaired platelet adhesion and aggregation and Mucocutaneous bleeding
impaired adhesion of activated leukocytes to EC and frequent infections
For abbreviations, see Table 12.1 footnotes.

Genetic Deficiencies in Adhesion Molecules Berndt MC, Shen Y, Dopheide SM, et al: The vascular biology of the glyco-
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fucose metabolism that prevents synthesis of the carbohydrate ligands Fooksman DR, Vardhana S, Vasiliver-Shamis G, et al: Functional anatomy of
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For example, erythrocytes from patients with sickle cell anemia adhere McEver RP: Adhesive interactions of leukocytes, platelets, and the vessel wall
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during myocardial infarction or shock may contribute to neutrophil- Ponta H, Sherman L, Herrlich PA: CD44: From adhesion molecules to
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metastatic spread through interactions with platelets, endothelial Springer TA, Wang JH: The three-dimensional structure of integrins and
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These examples underscore the importance of proper regulation
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SUGGESTED READINGS Vestweber D, Winderlich M, Cagna G, et al: Cell adhesion dynamics at
endothelial junctions: VE-cadherin as a major player. Trends Cell Biol
19:8, 2009.
Alcaide P, Auerbach S, Luscinskas FW: Neutrophil recruitment under shear Wang H, Lim D, Rudd CE: Immunopathologies linked to integrin signalling.
flow: It’s all about endothelial cell rings and gaps. Microcirculation 16:43, Semin Immunopathol 32:173, 2010.
2009. Erratum in: Microcirculation 16:782, 2009.