Primary Immunodeficiency

Question 1

Whentheimmunesystem isunabletoprotectagainst pathogensinthe environment

Answer 1

Primary immunodeficiency

Question 2

Theseareconditionscharacterizedbyintrinsic defectswithintheimmunesystemandarecausedby inheritedordenovo geneticdefects

Answer 2

Primary immunodeficiency

Question 3

Primary immunodeficiency occurs in persons born with an immune system that is either absent or

Answer 3

Hampered in its ability to function

Question 4

Mediatehumoral specificimmunitybyproducIngantibodies

Answer 4

B cells

Question 5

NEUTRALIZEvirusesandotherorganismsbybindingtothemand preventingtheirattachmenttohostcells

Answer 5

B cells

Question 6

B cells opsinize microbes for phagocytosis, usually with

Answer 6

Complement

Question 7

75%ofserumIg;mainantibodyincontrollinginfections;23day half‐life

Answer 7

IgG

Question 8

First Ig madebyfetusandbyimmatureBcells;good agglutinatingIg(clumpsorganismsforelimination)whichleadstolysis oforganisms;5dayhalf‐life

Answer 8

IgM

Question 9

Has Jchainandsecretory piece;majorIg insecretions;6day half‐life

Answer 9

IgA

Question 10

Low levelsinserum;primarilyfoundonBcellsasanantigen receptor;uncertainroleinserum;3dayhalf‐life

Answer 10

IgD

Question 11

LeastcommonserumIg duetobindingtomastcellsandbasophils;involvedinallergicreactions;2.5dayhalf‐life

Answer 11

IgE

Question 12

The most common types of primary immune deficiency diseases come from

Answer 12

Antibody deficiencies

Question 13

Comprises the frequency and severity of infections and the duration of infections

Answer 13

Index of Suspicion

Question 14

Poor response to antibiotics and unusual infectious agents are also part of the

Answer 14

Index of suspicion

Question 15

React to recurrent sino-pulmonary infections

-may also help with parasitic infections of GI tract

Answer 15

B cells

Question 16

Fight fungal and viral infections causing mucocutaneous candidiasis, persistent respiratory infections, chronic diarrhea, and failure to thrive

Answer 16

T cells

Question 17

Fight recurrent skin infections of visceral abscesses, poor wound healing, and peridontal disease

Answer 17

Phagocytes

Question 18

Fight bacterial infections such as Neisseria (meningitis or ghonorrhea), and sepsis

Answer 18

Late complement components

Question 19

Fight things like severe or recurrent herpesvirus infections

Answer 19

NK cells

Question 20

Severe Combined Immunodeficiency (SCID),Adenosine deaminasedeficiency (ADA), Purinenucleoside phosphorylasedeficiency (PNP), Reticular dysgenesis, DiGeorgesyndrome, Ataxia-telangiectasia, and Wiskott-Aldrich syndrome are all examples of

Answer 20

T cell deficiencies

Question 21

A group of syndromes due to various gene defects that result in virtually complete lack of T and B cell function

Answer 21

Severe Combined Immunodeficiency (SCID)

Question 22

SCID is caused by a block in T cell development that is associated with abnormal

Answer 22

B and NK cell development

Question 23

Usually all immunoglobin levels are low in

Answer 23

SCID

Question 24

Has the most common presenting symptom of life-threatening infections in the first months of life

Answer 24

SCID

Question 25

Chromosomal defect, usually a deletion that impacts end organs derived from the 3rd and 4th pharyngeal arches

Answer 25

DiGeorge syndrome

Question 26

Has symptoms of tetrology of fallot, hypocalcemia, low set ears, and cleft palate

Answer 26

DiGeorge syndrome

Question 27

Variable T cell defect caused by low CD3+/CD4+ and B cell defects

Answer 27

Ataxia Telangiectasia

Question 28

Ataxia Telangiectasia is caused by mutations in

Answer 28

ATM gene

Question 29

Provides instructions for making a protein that helps control cell division and is involved in DNA repair

Answer 29

TM gne

Question 30

X-linked recessive defect in WASP gene

Answer 30

Wiskott-Aldrich Syndrome (WAS)

Question 31

Characterized by small platelets and thrombocytopenia with petechiae and bruising and bleeding

Answer 31

WAS

Question 32

There is a high incidence of autoimmunity and lymphoid malignancy with -Poor prognosis

Answer 32

WAS

Question 33

Agammaglobinemia, IgA deficiency, hyper IgM, and Common Variable Immunodeficiency (CVI) are types of

Answer 33

B-cell (antibody) deficiencies

Question 34

The most common primary immunodeficiency

Answer 34

Selective IgA deficiency

Question 35

Characterized by a decreae in only IgA - may have recurrent infections, allergies, or autoimmune diseases - may progress to CVA

Answer 35

Selective IgA deficiency

Question 36

In IgA deficiency, B cells express IgA, however they are of immature phenotype with the coexpression of IgM and IgD, and they cannot fully develop into

Answer 36

IgA secreting plasma cells

Question 37

An intrinsic B-cell disorder resulting from a defect in Bruton Tyrosine Kinase (BTK), which leads to maturation arrest of pre-B cells

Answer 37

Agammaglobinemia

Question 38

Agammaglobinemia is most commonly inherited as an

Answer 38

X-linked trait

Question 39

All types of immunoglobins are either markedly reduced or absent in

Answer 39

Agammaglobinemia

Question 40

In peripheral blood, patients with agammaglobinemia have nearly absent

Answer 40

B cells

Question 41

Characterized with a normal number of B cells, but low serum levels of immunoglobins

Answer 41

Common Variable Immunodeficiency (CVI)

Question 42

Many patients with CVI do not develop recurrent infections until the

Answer 42

2nd or 3rd decades of life

Question 43

Chronic Granulomatous Disease (CGD), Chediak-Higashi syndrome, Leukocyte Adhesion Deficiency (LAD), and Hyper IgE (Job's) syndrome are disorder in

Answer 43

Phagocytes

Question 44

Mutations of any four genes that cause deficiency functioning of the phagocyte oxidase complex - 70% X-linked - 30% Autosomal recessive

Answer 44

CGD

Question 45

Patients with CGD suffer from recurrent, life threatening

Answer 45

Bacterial infections

Question 46

The most common bacterial infection in CGD is from

Answer 46

Staph. Aureus

Question 47

Rare autosomal recessive disorder caused by mutations in the LYST gene

Answer 47

Chediak-Higashi syndrome

Question 48

Makes a protein that transports materials into lysosomes

Answer 48

LYST gene

Question 49

Characterized by large abnormal granules inneutrophils, melanocytes, hair, and Schwann cells

Answer 49

Chediak-Higashi Syndrome

Question 50

One sign of Chediak-Higashi syndrome is partial

Answer 50

Oculo-cutaneous albinism

Question 51

Patients with Chediak-Higashi syndrome have a poor prognosis without

Answer 51

BM transplant

Question 52

Pre- and post-vaccination titers are part of the initial evaluation for

Answer 52

B cell disorders

Question 53

The neutrophil oxidative burst test is diagnostic for

Answer 53

Phagocytic disorders

Question 54

What is part of the initial evaluation for the complement system?

Answer 54

Total complement level (CH50)