L27 - Primary Immune Deficiencies

Question 1

NK cell defects

Answer 1

associated with increased herpes viruses

Question 1

genetic defect in Btk, involved in B-cell signaling

Answer 1

X-linked agammaglobulinemia (XLA)

Question 2

defects in lectin pathway

Answer 2

increased susceptibility to childhood infection

Question 3

• genetic disease caused by defect in CD18 (part of LFA1)
• results in recurrent bacterial infections due to inability of phagocytes to enter tissues

Answer 3

leukocyte adhesion deficiency (LAD)

Question 4

genetic defect in producing superoxide radical, resulting in reduced ability to kill bacteria

Answer 4

chronic granulomatous disease (CGD)

Question 5

X-linked agammaglobulinemia (XLA)

Answer 5

genetic defect in Btk, involved in B-cell signaling

Question 6

defects in classical complement pathway

Answer 6

associated with immune complex disease

Question 6

X-linked SCID

Answer 6

genetic defect of the gamma chain, shared by several IL-receptors; results in decreased T-cells, normal B-cell count, and defective antibody production

Question 8

leukocyte adhesion deficiency (LAD)

Answer 8

• genetic disease caused by defect in CD18 (part of LFA1)
• results in recurrent bacterial infections due to inability of phagocytes to enter tissues

Question 9

• genetic disease caused by defect in C1 inhibitor
• individuals subject to swelling of intestines, airways, and skin

Answer 9

heriditary angioneurotic edema

Question 10

bare-lymphocyte syndrome

Answer 10

genetic defect of MHC II expression; results in lack of CD4 T-cells

Question 11

Chediak-Higashi syndrome

Answer 11

• genetic defect in intracellular vesicle formation
• results in impaired phagocytes and partial albinism

Question 12

chronic granulomatous disease (CGD)

Answer 12

genetic defect in producing superoxide radical, resulting in reduced ability to kill bacteria

Question 14

defects in alternative pathway

Answer 14

increased susceptibility to Neisseria

Question 15

genetic defect of the gamma chain, shared by several IL-receptors; results in decreased T-cells, normal B-cell count, and defective antibody production

Answer 15

X-linked SCID

Question 16

• genetic defect in intracellular vesicle formation
• results in impaired phagocytes and partial albinism

Answer 16

Chediak-Higashi syndrome

Question 17

treatments for primary immunodeficiencies

Answer 17

1. enzyme replacement therapy
2. passive immunization
3. bone marrow transplant
4. gene therapy

Question 18

IPEX

Answer 18

immune dysfunction, polyendocrinopathy, enteropathy, X-linked inheritance; caused by defects in Foxp3 transcription factor, resulting in lack of Tregs

Question 19

heriditary angioneurotic edema

Answer 19

• genetic disease caused by defect in C1 inhibitor
• individuals subject to swelling of intestines, airways, and skin