Immunodef. disorders

Question 1

Leukocyte Adhesion Deficiency (LAD) pattern of inheritance

Answer 1

Autosomal, recessive

Question 2

Pathogenesis = defective activation of all beta–integrins; not just the CD18 family

Answer 2

LADIII (rare)

Question 3

severely mentally retarded; short in stature; delays in motor development

Answer 3

LADII (rare)

Question 4

Three potential etiologies for SCID: 1) deficiency–> needed for purine metabolism

Answer 4

1) Adenosine deaminase

Question 5

Low immunoglobulin due to impaired B-cell differentiation;

Answer 5

Common Variable Immunodeficiency Disorder (CVID)

Question 6

Treatment = antibiotics and fucose supplementation

Answer 6

LADII (rare)

Question 7

Recurrent oral candidiasis, failure to thrive, and protracted diarrhea and/or acute interstitial pneumonitis caused by Pneumocystis jiroveci

Answer 7

Severe Combined Immunodeficiency Disorder (SCID)

Question 8

Defective in both cell-mediate and humoral immunity; B-cell and T-cell deficiency

Answer 8

Severe Combined Immunodeficiency Disorder (SCID)

Question 9

DiGeorge Syndrome: Aortic defects and congenital heart defects due to 1)

Answer 9

abnormal development of pharyngeal system;

Question 10

Pathogenesis = absence or defect in beta 2-integrin (CD18) family

Answer 10

LADI

Question 11

why are CGD patients at high risk of Catalase positive bacteria?

Answer 11

Catalase positive organisms neutralize their own H2O2 (peroxide), leaving pahagocytes with less ROS

Question 12

Lack of a NADPH oxidase

Answer 12

Chronic Granulomatous Disease (CGD)

Question 13

Clinical manifestations = recurrent bacterial infections, particularly of the skin and mucosa; leukocytosis; periodontitis; no pus formation; impaired wound healing

Answer 13

LADI

Question 14

Chronic Granulomatous Disease (CGD) inheritance pattern

Answer 14

70% X-linked recessive

Question 15

Clinical manifestations = less severe and fewer infections than LADI; severely mentally retarded; short in stature; delays in motor development

Answer 15

LADII (rare)

Question 16

Decreased function of regulatory T (Treg) cells

Answer 16

Wiskott-Aldrich Syndrome diagnosis:

Question 17

Inc. risk autoimmune disorders

Answer 17

Common Variable Immunodeficiency Disorder (CVID):

Question 18

Dihydrorhodamine 123 (DHR) test Nitroblue tetrazolium (NBT) test

Answer 18

Chronic Granulomatous Disease (CGD) diagnosis: Both will be negative

Question 19

Inc. risk lymphoma

Answer 19

Common Variable Immunodeficiency Disorder (CVID):

Question 20

Three potential etiologies for SCID: 1) deficiency–> leads to defective lymphocyte receptor rearrangements

Answer 20

1) MHC Class II

Question 21

Pathogenesis • Lack of a NADPH oxidase subunits • Lack of adapter/ activating proteins; This is needed for respiratory burst for killing mechanism of neutrophils

Answer 21

Chronic Granulomatous Disease (CGD)

Question 22

SCID s/s: susceptible to 1)

Answer 22

1) fungal, viral, and bacterial infections;

Question 23

Clinical manifestations = infections similar to LADI with bleeding complications

Answer 23

LADIII (rare)

Question 24

Impaired chemotaxis of phagocytic cells

Answer 24

Wiskott-Aldrich Syndrome diagnosis:

Question 25

Wiskott-Aldrich Syndrome pneumonic: WATER

Answer 25

water: Wiskott Aldrich Thrombocytopenic purpura Eczema; Recurrent infection

Question 26

Pathogenesis = absence of fucosylated carbohydrate ligands for selectins

Answer 26

LADII (rare)

Question 27

Bombay blood group

Answer 27

LADII (rare)

Question 28

DiGeorge Syndrome: Heterozygous chromosomal deletion at 1) resulting in abnormal development of the embryonic pharyngeal system; as a result, patient lack thymus (therefore 2)) and parathyroids (3))

Answer 28

1) 22q11.2 2) T-cell deficient 3) hypocalcemia

Question 29

Aspergillus fumigatus inc, risk

Answer 29

Chronic Granulomatous Disease (CGD)

Question 30

Leukocytes, particularly neutrophils, cannot migrate from blood vessel into tissues

Answer 30

Leukocyte Adhesion Deficiency (LAD)

Question 31

Treatment • ImmunoGlobulin replacement therapy

Answer 31

Common Variable Immunodeficiency Disorder (CVID):

Question 32

Treatment of CGD

Answer 32

Prophylaxis with trimethoprim/sulfamethoxazole

Question 33

Common Variable Immunodeficiency Disorder (CVID): Markedly reduced serum 1) with low levels of 2)

Answer 33

1) IgG 2) IgA and/or IgM

Question 34

Wiskott-Aldrich Syndrome diagnosis: High immunoglobulins–> 1) Decreased to normal Ig–> 2)

Answer 34

1) high IgA and IgE 2) low to normal IgG and IgM

Question 35

Three potential etiologies for SCID: 1)signaling deficiency

Answer 35

1) Cytokine

Question 36

DiGeorge Syndrome: predominant cell that is deficient

Answer 36

T-cell

Question 37

Ataxia Telangiectasia: 1) disorder associated with 2) mechanisms Chromosome 11q22.3

Answer 37

1) Autosomal recessive 2) defective DNA repair

Question 38

Reduced IgA; Cerebellar Ataxia

Answer 38

Ataxia Telangiectasia:

Question 39

Treatment = bone marrow or hematopoetic stem cell transplantation

Answer 39

LADIII (rare)

Question 40

Clinical manifestations • Deep tissue bacterial and fungal abscesses

Answer 40

Chronic Granulomatous Disease (CGD)

Question 41

Wiskott-Aldrich Syndrome; 1) disorder caused by mutations in the gene that encodes the 2); this affects 3) leading to deficits in immunologic synapse;

Answer 41

1) X-linked 2) Wiskott-Aldrich syndrome protein (WASp) 3) cytoskeletal proteins

Question 42

high risk of Aspergillus fumigatus

Answer 42

Chronic Granulomatous Disease (CGD)

Question 43

LADI diagnosis

Answer 43

absence of CD18 and the associated alpha subunits on the leukocyte surface by flow cytometry

Question 44

Burkholderia cepacia inc. risk;

Answer 44

Chronic Granulomatous Disease (CGD)

Question 45

ATM gene on Chromosome 11 is responsible for repairing DNA double strand breaks; a mutation here leads to 1)

Answer 45

Ataxia Telangiectasia:

Question 46

Diagnosis = physical features, mental and growth retardation, recurrent but usually mild infections, marked leukocytosis, and the Bombay blood group

Answer 46

LADII (rare)

Question 47

Diagnosis = bleeding complications from birth

Answer 47

LADIII (rare)

Question 48

Impaired phagocytic killing mechanisms of neutrophils and macrophages

Answer 48

Chronic Granulomatous Disease (CGD)

Question 49

Diagnosis = bleeding complications from birth, severe bacterial infections, leukocytosis, demonstration of impaired integrin activation

Answer 49

LADIII (rare)

Question 50

In CGD, Nitroblue tetrazolium (NBT) test will be 1) indicating that 2)

Answer 50

1) NEGATIVE 2) ROS are not being made by neutrophils

Question 51

Inc risk of Catalase-positive bacteria (S. aureus and Serratia marcescens)

Answer 51

Chronic Granulomatous Disease (CGD)

Question 52

SCID pts; acute interstitial pneumonitis caused by 1)

Answer 52

1) Pneumocystis jiroveci

Question 53

DiGeorge Syndrome diagnosis: Reduced numbers of 1) with characteristic triad of features • Demonstrated deletion in chromosome 2)

Answer 53

1) CD3+ T cells 2) 22q11.2

Question 54

Leukocyte migration: Endothelial cells activated by release of 1); neutrophils are recruited and they begin rolling which is mediated by 2) then neutrophils are activated, which occurs due to 3); then the neutrophil “sticks” to the endothelial cell by 4)

Answer 54

1) histamine and IL-1Beta; 2) selectins (LADII if deficient) 3) integrins; (LADIII, if deficient) 4) ICAM (LAD I, if CD18 family of integrins deficient)