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Protein defects.

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Table 1. Complement Receptors

Receptor	Cluster Designation	Ligand	Cell Distribution	Activity
CR1	CD35	C3b/C4b	RBC, polymorphonuclear cell, macrophage, B cell, follicular dendritic cell	Immune adherence, phagocytosis
CR2	CD21	C3dg/C3d	B cell, follicular dendritic cell	Co-receptor for B-cell signaling
CR3	CD11b/CD18	C3bi, ICAM	Myeloid	Phagocytosis, immune adherence
CR4	CD11c/CD18	C3bi, ICAM	Myeloid	Phagocytosis, immune adherence
C1qRP	None	C1q, MBL, surfactant	Polymorphonuclear cell, macrophage	Promotes phagocytosis
C3aR	None	C3a, C4a	Polymorphonuclear cell, macrophage, epithelial cell, smooth-muscle cell	Anaphylatoxin
C4aR	None	C4a	Polymorphonuclear cell, macrophage, epithelial cell, smooth-muscle cell	Anaphylatoxin
C5aR	CD88	C5a	Polymorphonuclear cell, macrophage, epithelial cell, smooth-muscle cell	Anaphylatoxin
ICAM = intercellular adhesion molecule, MBL = mannose-binding lectin

Table 2. Leukocyte Adhesion Defects

Disease	Inheritance	Genetic Defect	Protein Defect	Affected Cells	Affected Function	Manifestations
LAD type 1	Autosomal recessive	INTGB2	CD18	Polymorphonuclear cell, macrophage, lymphocytes, NK cells	Tight adherence, chemotaxis, endocytosis, T-cell/NK-cell cytotoxicity	Delayed cord separation, skin ulcers, periodontitis, leukocytosis, poor pus formation
LAD type 2	Autosomal recessive	FUCT1 encoding for GDP-fucose transporter	Fucosylated proteins, sialyl-Lewis X (sLeX, CD15s)	Polymorphonuclear cell, macrophage	Rolling, chemotaxis, tethering	Same as LAD type 1 plus hh-blood group, mental retardation
LAD type 3	Autosomal recessive	Kindlin 3 (FERMT3), involved in activation of integrin	Kindlin 3	Polymorphonuclear cell, macrophage, lymphocytes, NK cells	Tight adherence	Same as LAD type 1 plus bleeding tendency
Rac 2 deficiency	Possibly autosomal dominant	RAC2	Rac2, involved in regulation of actin cytoskeleton	Polymorphonuclear cell, decreased TRECs	Chemotaxis, O₂^- production	Recurrent infections, poor wound healing, leukocytosis, poor pus formation
E-selectin	Possibly autosomal recessive	Unknown	E-selectin	Endothelial cells	Rolling, tethering	Recurrent infections, poor pus formation, mild neutropenia
NK = Natural killer, TRECs = T-cell receptor excision circles

Table 3. Adhesion Molecules

Molecule	CD Number	Distribution	Ligand	Function
Integrins
LFA-1	CD11a/CD18	All leukocytes	ICAM-1, 2, 3	Adhesion, migration
CR3	CD11b/CD18	Polymorphonuclear cell, macrophage, NK cells, eosinophils	ICAM-1,2; C3bi	Adhesion, migration
CR4	CD11c/CD18	All leukocytes	C3bi, ICAM-1, CD23, fibrinogen	Adhesion
Alpha4-beta7	None	Lymphocytes, NK cells, eosinophils	MadCAM-1, VCAM-1, fibronectin	Adhesion, migration, rolling
VLA-4	CD49d/CD29	Lymphocytes, NK cells, eosinophils, basophils	VCAM-1, fibronectin	Adhesion, migration, rolling
Selectins
E	CD62E	Endothelial cells, platelets	Sialylated, fucosylated molecules (sLeX, CD15s) expressed on PSGL-1 and ESL-1	Rolling
P	CD62P	Endothelial cells, platelets	Sialylated, fucosylated molecules (sLeX) expressed on PSGL-1	No data
L	CD62L	Leukocytes	Sialylated, fucosylated molecules (often sulfated) expressed on CD34, MadCAM-1 and other glycoproteins-1	Rolling
MadCAM = Mucosal addressin cell adhesion molecule; VCAM = Vascular cell adhesion molecule; VLA = Very late activation antigen

Table 4. Subtypes of Leukocyte Adhesion Deficiency Type 1

Subtype	mRNA level	CD18 Expression	Clinical Presentation
1	None	None	Severe
2	Low	Trace	Moderate
3	Reference range	Trace, small protein precursor	Moderate
4	Reference range	Large protein precursor	Severe
5	Reference range	Normal protein precursor	Moderate
mRNA = messenger RNA.

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