defective leukocyte motility/movement

Question 1

• Normal random movement ; abnormal CHEMOTACTIC/DIRECTIONAL MOTILITY
• Patient suffer from persistent boils and recurrent “cold” staphylococcal abcesses
• Associated with increased IgE

Answer 1

job’s syndrome

Question 2

• Are rare autosomal recessive inherited conditions resulting in the inability of neutrophils and monocytes to move from circulation to the site of inflammation (called extravasation)
• Consequences of these disorders are recurrent severe bacterial and fungal infections
• Hematopoietic stem cell transplant is the only curative treatment

Answer 2

leukocyte adhesion disorders (LADs)

Question 3

• Abnormal random and chemotactic movement
• Cells failed to respond to inflammatory stimuli but have normal phagocytic and bactericidal activity

Answer 3

lazy-leukocyte syndrome

Question 4

• warts, hypogammaglobulinemia, infections, and myelokathexis syndrome
• Defect in intrinsic and innate immunity
• Mutations in the CXCR4 gene
• CXCR4 protein regulates movement of white blood cells between the bone marrow and peripheral blood
• Neutrophils accumulate in the bone marrow (myelokathexis), which results in low numbers of circulating neutrophils
• In addition to neutropenia, lymphopenia, monocytopenia, and hypogammaglobulinemia are present; as a result, patients experience recurrent bacterial infections and are highly susceptible to humanpapillomavirus (HPV) infection, which leads to warts

Answer 4

WHIM syndrome

Question 5

lad

• Mutation in the ITGB2 gene ; gene that encodes CD18 subunit of b2integrins, resulting in either a decreased or truncated form of the b2integrin, which is necessary for adhesion to endothelial cells, recognition of bacteria, and outside-in signaling
• Shortly after birth, patients suffer from recurrent infections, often affecting skin and mucosal infections
• Lymphadenopathy, splenomegaly, and neutrophilia are common findings

Answer 5

LAD I

Question 6

lad

• Caused by mutations in Kindlin-3 ; Kindlin-3 protein along with talin are required for activation of b integrin and leukocyte rolling
• Leukocytes and platelets have normal expression of integrins; however, there is failure in response to external signals that normally results in leukocyte activation
• patients experience a mild LAD I-like immunodeficiency with recurrent infections
• Additionally, there is decreased platelet glycoprotein IIb/IIIa, resulting in bleeding similar to that seen in Glanzmann’s Thrombasthenia

Answer 6

LAD III

Question 7

lad

• Mutation in the SLC35C1 gene ; leukocytes have normal b2integrins
• Defective fucose transporter and selectin synthesis
• Patients have recurring infections, neutrophilia, growth retardation, a coarse face, and other physical deformities

Answer 7

LAD II