21: PID And Congenital Immunodeficiencies

Question 1

Warning sings of Immunodeficiency

Answer 1

A. 8+ ear infections in 1 year
B. 2+ serious sinus infections in 1 year
C. 2+ PNA in 1 year
D. 2+ deep-seated infections or in unusual areas
E. Recurrent deep skin or organ abscesses
F. Need for IV Abx to clear infections
G. Infections with unusual opportunistic organisms
H. FHx of PID

Question 2

What to screen for with recurrent sinopulmonary bacterial infection

Answer 2

Humoral immunity

Question 3

What to screen for for recurrent viral and or fungal infection

Answer 3

Cellular immunity

Question 4

What to screen for with recurrent skin abscesses and fungal infections

Answer 4

Phagocytes defects

Question 5

What to screen for with bacteremia/meningitis with encapsulated bacteria

Answer 5

Complement deficiency

Question 6

CBC

Answer 6

Screens for T cells, B cell, and platelet numbers

Question 7

DTH skin test

Answer 7

Screens for T cell defects

Question 8

Ab testing after immunization

Answer 8

Screens for humoral immunodeficiency

Question 9

Total hemolytic complement assay

Answer 9

Screens for complement disorder

Question 10

Nitroblue tetrazolium test

Answer 10

Screens for phagocytic disorder

Question 11

First immunodeficiency in which particular molecular defect was IDed

Answer 11

ADA deficiency

Question 12

1st and 2nd most common forms of SCID

Answer 12

1: Common y chain deficiency

2. ADA deficiency

Question 13

What cytokines share the IL-2Ry receptor?

Answer 13

IL-4, IL-7, IL-9, IL-15, IL-21

Question 14

Most common type of immune deficiencies, making up 50% of all conditions

Answer 14

B cell immunodeficiencies

Question 15

What happen in children with decreased IgG2

Answer 15

Poor response to polysaccharide Ags

Question 16

what happens with IgG4 deficiencies?

Answer 16

Many times healthy people have that and dont even realize - isn’t too big of a deal

Question 17

Definition of T cell immunodeficiency

Answer 17

Having less than 300-500 CD3+ circulating cells / uL; which may be dysfunctional as well

Question 18

What three SCIDs are T cell immunodeficiencies?

Answer 18

1. Common y chain
2. ILI-7R a chain
3. CD3

Question 19

What does IPEX stand for

Answer 19

Immunodysregulation, Polyendocrinopathy, Enteropathy

Question 20

MyD88 deficiency

Answer 20

Impaired signaling fro all TLRs besides TLR3

Question 21

MyD88 deficiency presentation

Answer 21

Lack of fevers even during infection, frequent/severe pyogenic bacterial infections

Question 22

TLR3 deficiency makes you susceptible to what?

Answer 22

HSV encephalitis

Question 23

TLR3 deficiency type of inheritance

Answer 23

Autosomal dominant

Question 24

Clinical associations of classical complement deficiencies

Answer 24

SLE!!!, RA, recurrent sinopulmonary infections

Question 25

C1 and C4 deficiency

Answer 25

Failure to clear ICs on RBCs -> form deposits in tissues -> inflammation

Question 26

C2 deficiency

Answer 26

Susceptible to strep pneumonia

Question 27

Most common complement deficiency in caucasians

Answer 27

C2 deficiency

Question 28

What does C1-INH deficiency cause?

Answer 28

hereditary angioedema (HAE)

Question 29

HAE

Answer 29

Uncontrolled production of bradykinin -> swelling in lips, face, GI, larynx, etc.

Question 30

C3 deficiencies - presentation similar to what?

Answer 30

Ab deficiencies, but is much less common

Question 31

Clinical association of MAC deficiency

Answer 31

Neisseria infection

Question 32

What causes Paroxysmal Nocturnal Hemoglobinuria (PNH)?

Answer 32

Failure of MAC formation

Question 33

PNH: deficienct proteins

Answer 33

GPI anchor proteins, like DAF and CD59 that regulate MAC