Primary Immunodeficiencies

Question 1

What PID caused defective production of ROSs?

Answer 1

NADPH Oxidase defect in Chronic Granulomatous Disease (CGD)

Question 2

What cell makes ROS involved in chronic granulomatous disease?

Answer 2

Phagocytes

Question 3

What PID is associated with absent or deficient expression of B2-integrins?

Answer 3

LAD-1

Question 4

What is B2-integrin important for?

Answer 4

Leukocyte adhesion

Question 5

What PID is caused by absent or deficient expression of leukocyte ligands for endothelial E and P-selectins causing failure of MIGRATION of leukocytes from blood into tissue?

Answer 5

LAD-2

Question 6

What complement disease is caused by a defect in the complement cascade activation?

Answer 6

Complement C3 Deficiency

Question 7

Complement C2 and C4 deficiency is related to which pathway?

Answer 7

Classical Complement Pathway

Question 8

What disease is associated with failure to clear immune complexes and defective granule function in NK cells?

Answer 8

SLE

Question 9

What disease is caused by defective lysosomal function in neutrophils, macrophages, and dendritic cells?

Answer 9

Chédiak-Higashi Syndrome

Question 10

What is commonly seen with a problem in macrophage phagocytosis?

Answer 10

Abscesses

Question 11

Defective lysosomal storage can be caused by…

Answer 11

Dysfunctional microtubules

Dysfunctional phagocytosis

Question 12

What is the inheritance pattern of CGD?

Answer 12

x-linked and autosomal recessive

Question 13

What is the inheritance pattern of Chediak-Higashi?

Answer 13

Autosomal recessive

Question 14

What is the inheritance pattern of LAD-1

Answer 14

Autosomal recessive

Question 15

What is the inheritance pattern of the classical pathway?

Answer 15

autosomal recessive

Question 16

What is the inheritance pattern of Bruton’s XLA?

Answer 16

x-linked

Question 17

What is the inheritance pattern of Wiskott-Aldrich?

Answer 17

x-linked

Question 18

What is the inheritance pattern of Hyper IgE (Job Syndrome)?

Answer 18

autosomal dominant

Question 19

Abscess with granulomas

Answer 19

CGD

Question 20

Albinism

Answer 20

Chediak-Higashi

Question 21

Delayed separation of umbilical cord, poor wound healing, and high neutrophils in blood

Answer 21

LAD

Question 22

Low or absent IgA

Answer 22

IgA deficiency

Question 23

Thrombocytopenia, infection, eczema (TIE)

Answer 23

Wiskott-Aldrich

Question 24

elevated IgM and low IgA and IgE

Answer 24

Hyper IgM Syndrome

Question 25

Absent B-cells and low Ab

Answer 25

Bruton's XLA

Question 26

SCIDs are associated with a defect in...

Answer 26

B and T cell development

Question 27

The most common SCID is...

Answer 27

Common-gamma chain --> lack of IL-7, IL-12, etc

Question 28

The second most common SCID is associated with...

Answer 28

ADA deficiency Adenosine deaminase

Question 29

What SCID is related to cytoskeletal deficiency leading to poor uptake by dendritic cells and other APCs?

Answer 29

Wiskott-Aldrich

Question 30

What is the deficiency associated with x-linked SCID?

Answer 30

cytokine receptor commom gamma chain mutation that leads to defective T-cell maturation due to lack of IL-7

Question 31

Autosomal recessive SCID due to ADA or PNP deficiency leads to...

Answer 31

progressive decrease in B and T cells More T0cells In ADA- reduced Ig In PNP- normal B-cells and serum Ig

Question 32

ADA and PNP deficiency causes...

Answer 32

accumulation of toxic metabolites in lymphocytes

Question 33

X-linked agammaglobulinemia

Answer 33

decrease of all serum Ig isotypes due to reduced B-cell numbers

Question 34

DiGeorge Syndrome

Answer 34

decreased Tcells | normal Bcells

Question 35

DiGeorge Syndrome is caused by

Answer 35

improper formation of the 3rd and 4th pharyngeal pouches which are important for thymus production

Question 36

Hypocalcemia is seen in...

Answer 36

DiGeorge

Question 37

Mutation in CD40 ligand leads to...

Answer 37

Hyper IgM Syndrome

Question 38

CVID is associated with

Answer 38

Mutations in the receptor for B cell growth factors and stimulators

Question 39

TAP1, TAP2, tapasin

Answer 39

MHC I expression defect

Question 40

Bare Lymphocyte Syndrome

Answer 40

MHC II expression defect

Question 41

Deficiency/defect in CD3 and ZAP70

Answer 41

Defective T-cell signaling

Question 42

In defective CD3 and ZAP70 you see... what change in T-cells?

Answer 42

Normal T-cell number | Defective signaling

Question 43

DiGeorge Syndrome is a mutation in...

Answer 43

Tbox-1 and FoxN1 genes

Question 44

thymic aplasia is associated with...

Answer 44

DiGeorge Syndrome

Question 45

What mutations are associated with VDJ recombination?

Answer 45

RAG 1, RAG 2, and Artemis

Question 46

CD19 is seen on what cell?

Answer 46

B-cells

Question 47

Mutations in CD40ligand, CD40 receptor, and AID is associated with...

Answer 47

Hyper IgM Syndrome