Primary Adaptive Immunodeficiency

Question 1

How are Primary Adaptive Immunodeficiencies acquired?

Answer 1

Genetics

Question 2

What are 3 Primary Adaptive Immunodeficiency - lymphocyte maturation disorders?

Answer 2

SCID
DiGeorge Syndrome
X-linked Agammaglobulinemia

Question 3

What are 3 Primary Adaptive Immunodeficiency - lymphocyte maturation disorders

Answer 3

SCID
DiGeorge Syndrome
X-linked Agammaglobulinemia

Question 4

What are 3 Primary Adaptive Immunodeficiency - lymphocyte activation/function disorders?

Answer 4

Hyper - IgM Syndrome
CVID
IgA Deficiency

Question 5

What are 3 Primary Adaptive Immunodeficiency - lymphocyte activation/function disorders?

Answer 5

Hyper - IgM Syndrome
CVID
IgA Deficiency

Question 6

SCID

Answer 6

Severe Combined Immunodeficiency

Question 7

SCID has deficiencies in what cells?

Answer 7

B AND T cells

Question 8

The Autosomal Recessive version of SCID lacks what and has a buildup of what?

Answer 8

Lacks Adenosine deaminase

Has a buildup of toxic purines

Question 9

The Autosomal Recessive version of SCID lacks Adenosine Deaminase. What does that block?

Answer 9

T cell formation

Question 10

If T cell formation is blocked, what will that suppress?

Answer 10

B cell function

Question 11

The X-linked version of SCID has mutations in?

Answer 11

IL receptors

Question 12

The X-linked version of SCID has mutations in IL receptors. What does this decrease?

Answer 12

T and B cells

Question 13

SCID has deficiencies in what cells?

Answer 13

B AND T cells

Question 14

DiGeorge Syndrome has a deletion of?

Answer 14

22q11

Question 15

Deletion of 22q11

Answer 15

DiGeorge Syndrome

Question 16

What cell is specifically impacted in DiGeorge Syndrome?

Answer 16

T cells due to lack of thymus

Question 17

What pharyngeal pouches are missing/partial with DiGeorge syndrome?

Answer 17

3 and 4

- No thymus, No parathyroid, great vessel/heart abnormalities

Question 18

Symptoms of DiGeorge Syndrome?

Answer 18

T cell deficiency that could impact B cells function

- Facial/cardiac anomalies, hypocalcemia (tetany)

Question 19

Symptoms of DiGeorge Syndrome?

Answer 19

T cell deficiency that could impact B cells function

- Facial/cardiac anomalies, hypocalcemia (tetany)

Question 20

What gene on what chromosome is affected by X-linked Agammaglobulinemia?

Answer 20

BTK gene on X chromosome

Bruton Tyrosine Kinase

Question 21

Defect in BTK gene

Answer 21

X-linked Agammaglobulinemia

Question 22

What cells are affected and how with X-linked Agammaglobulinemia?

Answer 22

Pre-B cells can’t mature

Question 23

Those with X-linked Agammaglobulinemia’s risk for infection increases as?

Answer 23

Mother’s antibodies wane

Question 24

Hyper-IgM Syndrome has mutations where?

Answer 24

CD40/CD40L

Question 25

Mutations in CD40/CD40L

Answer 25

Hyper-IgM Syndrome

Question 26

What is the CD40/CD40L essential for?

Answer 26

T cells helping B cells class switch

Question 27

What mechanism is impaired with Hyper-IgM Syndrome?

Answer 27

``` T cells helping B cells class switch -- B cells unable to class switch due to mutations in CD40/CD40L ```

Question 28

What antibodies will be increased with Hyper-IgM Syndrome?

Answer 28

IgM

Question 29

Will the other antibodies by increased with Hyper-IgM Syndrome?

Answer 29

NO - they will be decreased

Question 30

CVID

Answer 30

Common Variable Immunodeficiency

Question 31

What is the most common Primary Adaptive Immunodeficiency?

Answer 31

CVID

Question 32

CVID is what?

Answer 32

Multiple disorders of hypogammaglobulinemia

Question 33

CVID is a disease of_____

Answer 33

exclusion

Question 34

CVID has later presentation. What symptoms will those with CVID have?

Answer 34

Recurrent pulmonary/sinus infections Anemia/thrombocytopenia Chronic diarrhea

Question 35

What symptoms will those with CVID have?

Answer 35

Recurrent pulmonary/sinus infection Anemia/thrombocytopenia Chronic diarrhea

Question 36

IgA deficiency has decreased defense against?

Answer 36

Inhaled and Ingested pathogens

Question 37

What types of infections will those with IgA deficiency get?

Answer 37

Pulmonary GI Bladder

Question 38

What serious condition is associated with IgA deficiency?

Answer 38

Transfusion - related Anaphylaxis

Question 39

What is Transfusion - related Anaphylaxis?

Answer 39

Anaphylaxis with transfusion of blood that contains IgA antibodies due to those with IgA deficiency not having seen them before

Question 40

What can prevent Transfusion - related Anaphylaxis?

Answer 40

Red cell washing