better questions on immunodeficiencies

Question 1

innate deficiency that causes severe recurrent bacterial infections

-Brittney spaniels

Answer 1

C3 deficiency

Question 2

most severe of the complement deficiencies

Answer 2

C3

Question 3

innate deficiency characterized by excess complement activation that leads to increased inflammation

• increased C3/C5 convertase activity
• Yorkshire pigs

Answer 3

Factor H deficiency

Question 4

innate deficiency caused by a defect in gene LYST (CHS1)

Answer 4

Chediak-Higashi Syndrome

Question 5

innate deficiency characterized by albinism, granules, increased infections

Answer 5

Chediak-Higashi Syndrome

Question 6

gene that regulates intracellular protein trafficking of lysosomes and secretory granules

A mutation of this gene interferes w/ the synthesis and function of granules

Answer 6

LYST -Chediak-Higashi

Question 7

a mutation in this gene causes a failure of the granulocyte nuclei to segment into lobes = nuclear hyposegmentation

Answer 7

LBR (lamin B protein)
- as seen in Pelger-Huet Anomaly

Question 8

this innate deficiency can be mistaken for infection or early stage lymphoma and is characterized by granulocytes appearing as immature (band) cells

Answer 8

Pelger-Huet Anomaly (PHA)

Question 9

mutation in this gene causes a failure of bone marrow to release neutrophils, results in severe neutropenia

Answer 9

VPS13B (Trapped Neutrophil Syndrome)

Question 10

innate deficiency characterized by abnormally long head and legs, weakness, failure to thrive and recurrent bacterial infections

*Border Collies

Answer 10

Trapped Neutrophil Syndrome

Question 11

a deficiency of CD18 (integrin Beta2 chain) results in what

Answer 11

impaired extravasation of WBCs, resulting in a high WBC count and recurrent bacterial infections

Question 12

Leukocyte adhesion deficiencies (LADs) are a deficiency in what

Answer 12

CD18 (integrin B2 chain)

Question 13

a mutation in this gene results in decreased enzyme activity, cyclic PNM counts and recurrent bacterial infections of the eyes, skin and respiratory tract

Answer 13

AP3B1 (cyclic neutropenia)
* gray collie syndrome

Question 14

patients with ____ cell deficiencies are more susceptible to infections with some bacteria/parasites/viruses in which immunity is primarily antibody-mediated

Answer 14

B

Question 15

this gene plays a role in regulating cellular responses to osmotic stress and is a a sodium/myo-inositol cotransporter

Answer 15

SLC5A3
(foal immunodeficiency syndrome)

Question 16

B cell deficiency disease characterized by abnormally low levels of RBCs and B cells

As levels continue to drop, foal becomes more anemic and susceptible to recurrent infections

Answer 16

Foal Immunodeficiency Syndrome

Question 17

a mutation in this gene causes an inability of pre-B cells to synthesize / express complete BCR, resulting in their apoptosis

Answer 17

Btk
(XLA)

Question 18

Disease characterized by lack of B cells and Igs in serum, also recurrent bacterial infections commonly in respiratory and gI tract

Answer 18

XLA

Question 19

Ig deficiency in which there is an inability of B cells to differentiate into IgA-secreting plasma cells, leading to recurrent infections on mucosal surfaces

Answer 19

Selective Ig deficiency

Question 20

patients with _____ cell deficiencies are susceptible to viruses, intracellular microorganisms, and opportunistic pathogens

Answer 20

T

Question 21

T/F: since T cells are often needed for appropriate Bcell/humoral response to antigens, patients w/ T cell deficiencies are usually also deficient in both CMI and humoral immune responses

Answer 21

T

Question 22

gene involved in regulation of T cell maturation

Answer 22

FOXN1

Question 23

disease characterized by reduced T cell production, resulting in increased susceptibility to opportunistic infections

also correlated to congenital hypotrichosis (no hair growth)

Answer 23

Thymic Aplasia

Question 24

severe deficit in numbers/function of both B and T cell lymphocytes

Answer 24

severe combined immunodeficiencies

Question 25

patients with ______ deficiency are highly susceptible to life-threatening, viral, bacterial and fungal infections early in life

Answer 25

SCID (severe combined immunodeficiencies)

Question 26

A kinase involved in the VDJ recombination process of B and T cells

Answer 26

DNA-PK (DNA dependent protein kinase)

Question 27

disease characterized by severe lymphopenia, lack of all serum Igs, and severe infections around 6-8weeks old

Answer 27

Mutation in DNA-PK (type of SCID)

Question 28

enzyme involved in ligating the DNA breaks, a lack of this enzyme activity results in failure of B and T cell maturation

Answer 28

Mutation in DNA-PK (type of SCID)

Question 29

disease is characterized by a poorly developed thymus, lacks of T cells, lack of serum IgG/IgA, severe infections begin around 6-8 weeks of age

Answer 29

Mutation in common gamma subunit of cytokine receptors

Question 30

the common gamma subunit is composed of several ____ receptors, which are important in lymphocyte maturation and function

Answer 30

cytokine

Question 31

a lack of the gamma subunit in cytokine receptors results in…

Answer 31

cytokine receptors being non-functional

Question 32

condition where increased susceptibility to infection is due to impairment of T cell function

Answer 32

Malnutrition

Question 33

causes elevation of endogenous glucocorticoids which results in immunosuppression

Answer 33

Stress