Immunodeficiency DIsorders

Question 1

disorders in which part of the body’s immune system is missing or dysfunctional

Answer 1

immunodeficiencies

Question 2

primary immunodeficiency

Answer 2

inherited

Question 3

secondary immunodeficiency

Answer 3

acquired

Question 4

results in pyogenic infections (particularly, upper and lower respiratory tract, recurrent sinusitis and otitis media are common)

Answer 4

Defects in Humoral immunity

Question 5

results in recurrent infections with intracellular pathogens (viruses, fungi, and intracellular bacteria)

Answer 5

Defects in T-cell mediated immunity

Question 6

results in recurrent pyogenic infections or impaired wound healing

Answer 6

Defects in Neutrophil function

Question 7

increased risk of overwhelming bacterial infection

Answer 7

Defects in macrophage function

Question 8

results in recurrent bacterial infections and autoimmune-type manifestations

Answer 8

Defects in Complement system

Question 9

Age-adjusted rates of malignancy in patients with immunodef dxs are?

Answer 9

10 to 200 times greater

Question 10

most common congenital immunodeficiency

Answer 10

Selective IgA deficiency

Question 11

Most are asymptomatic, but those with symptoms have infections in
respiratory and gastrointestinal tract

Answer 11

Selective IgA deficiency

Question 12

in Selective IgA deficiency if the serum is lower than ? the deficiency is considered ?

Answer 12

5mg/dL, severe

Question 13

in selective IgA deficiency, ? specifically directed against IgA are produced by 30% to 40% of patients with severe IgA deficiency

Answer 13

IgE

Question 14

in selective IgA deficiency it can cause anaphylactic reaction when ? containing products are transfused

Answer 14

IgA

Question 15

BTK stands for?

Answer 15

X-linked Bruton’s Tyrosine Kinase (Btk) Deficiency or Bruton agammaglobulinemia

Question 16

Develop recurrent bacterial infections and Lack circulating mature CD19+ B cells and deficiency or lack of all Ig class

Answer 16

X-linked Bruton’s Tyrosine Kinase (Btk) Deficiency

Question 17

BTK is differentiated from?

Answer 17

transient hypogammaglobulinemia of infancy by the absence of CD 19+ B cells

Question 18

BTK is exclusively for? (males or females)

Answer 18

males

Question 19

No mature B cells, but has pre-b cells on BM

Answer 19

X-linked Bruton’s Tyrosine Kinase (Btk) Deficiency

Question 20

most serious of the congenital immunodeficiencies

Answer 20

Severe Combined Immunodeficiencies (SCID)

Question 21

group of related diseases that affect all T- & B-cell function with differing causes

Answer 21

Severe Combined Immunodeficiencies (SCID)

Question 22

in BTK a group of related diseases that affect all T- & B-cell function with differing causes. what is the most common cause?

Answer 22

mutation in IL2RG gene on X-chromosome

Question 23

Normal signaling cannot occur in cells with defective receptors, halting natural maturation

Answer 23

X-linked Bruton’s Tyrosine Kinase (Btk) Deficiency

Question 24

who is the boy in the bubble?

Answer 24

David Phillip Vetter

Question 25

what did David Phillip Vetter experimented on?

Answer 25

Experimental bone marrow transplant from her sister cause his death

Question 26

A X-linked recessive syndrome

Answer 26

Wiskott-Aldrich syndrome (WAS)

Question 27

WAS is defined by a triad of?

Answer 27

immunodeficiency, eczema, thrombocytopenia

Question 28

in WAS what is the primary molecular defect?

Answer 28

CD43

Question 29

lethal in childhood because of infection, hemorrhage, or malignancy

Answer 29

Wiskott-Aldrich syndrome (WAS)

Question 30

lab findings in WAS

Answer 30

decrease platelet count and size, prolonged bleeding time, absence of isohemagglutinins

Question 31

developmental abnormality of the 3rd and 4th pharyngeal pouches that affects thymus development in embryo

Answer 31

Digeorge anomaly

Question 32

The immunodeficiency associated with DiGeorge anomaly is a

Answer 32

qualitative defect in thymocyte

Question 33

Most patients show a deletion in region q11 of chromosome 22, although this anomaly is not required for diagnosis

Answer 33

Digeorge anomaly

Question 34

treatment for Digeorge anomaly

Answer 34

fetal thymus transplantation

Question 35

Caused by mutation in LYST gene

Answer 35

Chediak-Higashi syndrome

Question 36

Reduced number of NK cells and neutrophils, as well as an increased production of inflammatory proteins; PBS shows granulocytic inclusions

Answer 36

Chediak-Higashi syndrome

Question 37

impaired fusion of lysosomes with phagosomes

Answer 37

Chediak-Higashi syndrome

Question 38

what is affected in Chediak-Higashi syndrome

Answer 38

lysosomes and melanosomes

Question 39

what category is Chediak-Higashi syndrome

Answer 39

category 4 PID

Question 40

what category is Chronic Granulomatous disease (CGD)

Answer 40

category 5 PID

Question 41

X-linked or autosomal recessive syndrome that has Has recurrent suppurative infections

Answer 41

Chronic Granulomatous disease (CGD)

Question 42

in CGD In normal individuals, activated neutrophils and mononuclear phagocytes kill organisms via the?

Answer 42

respiratory burst

Question 43

Mutations in any of the four subunits of the enzyme that catalyzes the burst, namely, ? an result in CGD

Answer 43

nicotinamide adenine dinucleotide phosphate (NADPH) oxidase

Question 44

diagnosed using Nitroblue Tetrazolium Test (NBT)

Answer 44

Chronic Granulomatous disease (CGD)

Question 45

CGD is historically diagnosed using

Answer 45

Nitroblue Tetrazolium Test (NBT)

Question 46

in CGD what will fluoresce when reduced neu are activated using PMA?

Answer 46

dihydrorhodamine (DHR)

Question 47

in CGD dihydrorhodamine will fluoresce when reduced neu are activated using?

Answer 47

phorbol myristate acetate (PMA)

Question 48

a mitogen for Neu Resulting in oxidative burst (as DHR will be reduced) measured by flow cyto

Answer 48

phorbol myristate acetate (PMA)

Question 49

phorbol myristate acetate a mitogen for Neu Resulting in oxidative burst (as DHR will be reduced) measured by?

Answer 49

flow cytometry

Question 50

the leukocytes phagocytize the microorganisms, initiating an increase in oxygen uptake. so, no dark crystals appear

Answer 50

nitroblue tetrazolium slide test (NBT)

Question 51

Autosomal recessive disorder and has a deficiency in CD18 and on T cells

Answer 51

Leukocyte Adhesion Deficiency (LAD)

Question 52

a component of adhesion receptors on neutrophils and monocytes (CD11b or CD11c)

Answer 52

CD18

Question 53

diagnosed by detecting a decreased amount of the CD11/18 antigen on patient leukocytes by flow cytometry

Answer 53

Leukocyte Adhesion Deficiency (LAD)

Question 54

recurrent bacterial infection without pus formation

Answer 54

LADI

Question 55

always seen together (deficiency in CD15s or sialyl-Lewis X), immunodeficiency is milder

Answer 55

LADII and Bombay blood group

Question 56

most common presenting symptom of some complement deficiencies

Answer 56

SLE

Question 57

Deficiencies in the early complement components ? are usually associated with a lupuslike syndrome

Answer 57

C1q, C4 and C2

Question 58

Deficiencies of the later components of complement ? are often associated with recurrent Neisseria meningitidis infections

Answer 58

C5-C9

Question 59

Deficiencies in the early complement components C1q, C4 and C2 are usually associated with a?

Answer 59

lupuslike syndrome

Question 60

Deficiencies of the later components of complement C5-C9 are often associated with?

Answer 60

recurrent Neisseria meningitidis infections