Primary Immunodeficiency

Question 1

Primary Immunodeficiency Diseases

Answer 1

Primary immunodeficiency diseases are conditions characterized by intrinsic deficits within the immune system and are caused y inherited or de novo genetic defects.

Question 2

Types of primary immunodeficiencies

Answer 2

Antibody Deficiencies (65%)
Complement deficiencies (5%)
Phagocytic deficiencies (10%)
Cellular deficiencies (5%)
Combined Cellular and antibody Deficiencies (15%)

Question 3

Sx of Immunodeficiency

Answer 3

Infections: Frequent, severe, unusual organisms. TtT

2. Autoimmune disease: System no longer able to distinguish self from non-self.
3. Immune dysregulation: Impaired tumor surveillance, hematopoietic malignancy

Question 4

Dx of Primary Immunodeficiency:

Answer 4

Medical/family history. Patterns of infection.

Physical examination, laboratory testing.

Question 5

BCell/humoral/antibody deficiencies

Answer 5

T-cells influence B cells to undergo antibody class switching. This function is impaired in some.

Question 6

Defects in IL12/IFNy axis

Answer 6

Defective signaling between T-cells and monocytes results in increased susceptibility to mycobacterial infection. The macrophages are unable to generate/respond to IFNg, which communicates with IL-12.

Question 7

Cellular Immunodeficiency: common patterns of infection

Answer 7

Mycobacteria
Salmonella
Candida
Herpes viruses
Pneumocystis

Question 8

SCID

Answer 8

Severe Combined Immunodeficiency

Overlapping mechanisms of defense are lef t vulnerable.

HSCT enzyme replacement is needed quickly.

Question 9

SCID Pattern of Infections

Answer 9

Bacteria, viruses, fungi, protozoa. EVERYTHANG

Question 10

Phagocytic Defects

Answer 10

Can be quality or quantity. Defects in NADPH oxidase.

Question 11

Phagocytic Defects Pattern of Infections

Answer 11

Bacteria
Mycobacteria
Fungi

Question 12

Complement Deficiency

Answer 12

Rare disorders. Diminished inflammatory response. MAC does not form.

Question 13

Complement Deficiency Patterns of Infection:

Answer 13

Encapsulated organisms

Autoimmune disease is most likely going to occur with complement deficiency.

Question 14

X-Linked (Bruton) agammaglobulinemia

Answer 14

Recessive X-linked disorder, B-cell immunodeficiency. B cells are few in number, immunoglobulin is diminished.

Question 15

Selective IgA deficiency

Answer 15

Most common immune deficiency disease. Immunoglobulin type switching does not occur due to , and the B-Cells persist in creating IgM.

Question 16

Chronic Granulomatous Disease

Answer 16

(CGD) results in defective enzymes and other microcidal molecules. They have normal numbers of the molecules but defects in organelle membranes inhibits fusion of lysosomes.

Question 17

Leukocyte Adhesion Defect 1and2 deficiencies

Answer 17

inhibit accessory cell function- including the ability of these cells to migrate and interact with other types of cells. For example, leukocytic migration is impaired.

Question 18

Defects in the Complement System

Answer 18

In some pathways, neutrophils, antibodies, as well as complement are required to mediate disease. C3 deficiency is common and results in severe problems, C1,2,4 deficiencies can result in the inability to form immune complexes to clear the pathogen.

Question 19

Secondary Immune Deficincies

Answer 19

May occur at any time of life, accompanying exposure.

Question 20

Causes of Secondary Immune Deficiencies

Answer 20

• Physiologic sequelae
• Therapeutic Treatments
• Infection
• HIV
• Cancer