Immunology - Clinical

Front 1

what is the defect in Bruton's agammaglobulinemia?

Back 1

X-linked recessive defect in a tyrosine kinase gene associated with low levels of all classes of Igs

Front 2

this disorder occurs in boys and is associated with recurrent bacterial infections after 6 months of age, when levels of maternal IgG antibody decline

Back 2

Brutons agammaglobulinemia (B cells)

Front 3

this immune deficiency presents with tetany owing to hypocalcemia and recurrent viral and fungal infections

Back 3

DiGeorge syndrome/thymic aplasia (T cells)

Front 4

this immune deficiency is associated with congenital defects of heart and great vessels

Back 4

DiGeorge syndrome

Front 5

what ist eh chromosomal abnormality associated with DiGeorge syndrome?

Back 5

22q11 deletion

Front 6

this is a defect in early stem cell differentiation and presents with recurrent viral, bacterial, fungal, and protozoal infections

Back 6

SCID - B and T cell deficiency

Front 7

failure to synthesize MHC II antigens, defective IL-2 receptors, and adenosine deaminase deficiency can all lead to what immune deficiency?

Back 7

SCID

Front 8

what does IL-12 receptor deficiency (decreased activation of T cells) present with?

Back 8

disseminated mycobacterial infections

Front 9

defect in CD40 ligand on CD4 T helper cells leads to inability to class switch; presents early in life with severe pyogenic infections

Back 9

hyper-IgM syndrome (decreased activation of B cells)

Front 10

this disorder is characterized by high levels of IgM and very low levels of IgG, IgA, and IgE

Back 10

hyper-IgM syndrome

Front 11

this syndrome is characterized by an X-linked defect in the ability to mount an IgM response to capsular polysaccharides of bacteria

Back 11

Wiskott-Aldrich syndrome (decreased activation of B cells)

Front 12

what is the triad of symptoms associated with Wiskott-Aldrich syndrome?

Back 12

infections, thrombocytopenic purpura, eczema (WIPE)

Front 13

this syndrome is associated with elevated IgA levels, normal IgE levels, and low IgM levels

Back 13

Wiskott-Aldrich syndrome

Front 14

this syndrome presents with recurrent 'cold' (noninflamed) staphylococcal abscesses, eczema, coarse facies, retained primary teeth, and high IgE levels

Back 14

Job's syndrome (decreased activation of macrophages)

Front 15

this syndrome is characterized by failure of gamma-interferon production by helper T cells; neutrophils fail to respond to chemotactic stimuli

Back 15

JOb's syndrome

Front 16

what is the defect in leukocyte adhesion deficiency syndrome?

Back 16

defect in LFA-1 adhesion proteins on phagocytes

Front 17

this syndrome presents early with severe pyogenic and fungal infections and delayed separation of umbilicus

Back 17

leukocyte adhesion deficiency syndrome

Front 18

how is Chediak-Higashi inherited?

Back 18

autosomal recessive

Front 19

this disease is marked by a defect in microtubular function and lysosomal emptying of phagocytic cells

Back 19

Chediak-Higashi disease

Front 20

this disease presents with recurrent pyogenic infections by staph and strep, partial albinism, and peripheral neuropathy

Back 20

Chediak-Higashi disease

Front 21

defect in phagocytosis of neutrophils owing to lack of NADPH oxidase activity or similar enzymes

Back 21

chronic granulomatous disease

Front 22

how is the diagnosis of chronic granulomatous disease confirmed?

Back 22

negative nitroblue tetrazolium dye reduction test

Front 23

this disease presents with marked susceptibility to opportunistic infections with bacteria, especially S. aureus, E. coli, and Aspergillus

Back 23

chronic granulomatous disease

Front 24

what is the defect in chronic mucocutaneous candidiasis present?

Back 24

idiopathic dysfunction of T cells specifically against candida albicans

Front 25

what is the most comon selective immunoglobulin deficiency? how does it present?

Back 25

selective IgA deficiency - presents with sinus and lung infections; milk allergies and diarrhea are common

Front 26

ataxia-telangiectasia is an idiopathic dysfunction of what type of cells?

Back 26

B cells

Front 27

defect in DNA repair enzymes with associated IgA deficiency; presents with cerebellar problems and spider angiomas

Back 27

ataxia-telangiectasia

Front 28

deficiency of what leads to hereditary angioedema?

Back 28

C1 esterase inhibitor

Front 29

deficiency of which complement protein leads to severe, recurrent, pyogenic sinus and RT infections?

Back 29

C3

Front 30

deficiency of what complement proteins leads to Neisseria bacteremia?

Back 30

C6-C8

Front 31

deficiency of what leads to paroxysmal nocturnal hemoglobinuria?

Back 31

decay-accelerating factor

Front 32

patients with what deficiency have an increased susceptibility to recurrent bacterial infections, especially with encapsulated bacteria

Back 32

C3 deficiency; not detected until later in life

Front 33

what is the most important immunological protective mechanism against blood-borne encapsulated organisms?

Back 33

IgG-mediated opsonization in the spleen

Front 34

Warthin-Finkeldy giant cell is pathognomonic for what?

Back 34

measles or the live attenuated measles vaccine

Front 35

Lyme arthritis is associated with what HLA?

Back 35

HLA-DR4

Front 36

patients with Wiskott-Aldrich syndrome have a 12% chance of developing what?

Back 36

non-Hodgkin's lymphoma

Front 37

test of choice to determine presence of circulating anti-Rh antibody?

Back 37

indirect Coombs test to measure IgG anti-Rh antibody

Front 38

low levels of all antibody classes

Back 38

common variable immunodeficiency

Front 39

spleen is important for removing what type of organisms? list 3

Back 39

strep pneumo, H. flu, Neisseria

Front 40

what is defective in leukocyte adhesion deficiency?

Back 40

integrins - function both in adhesion of leukocytes to other cells and in the phagocytosis of complement-coated material

Front 41

HLA types associated with SLE?

Back 41

HLA-DR2 and HLA-DR3

Front 42

most likely sequelae of rheumatic fever?

Back 42

mitral valve disease

Front 43

antitopoisomerase antibodies?

Back 43

scleroderma/systemic fibrosis - likely to develop diffuse systemic fibrosis & death from consequences of systemic disease such as pulmonary fibrosis or malignant hypertension

Front 44

what is responsible for strong binding between monocytes, T lymphocytes, macrophages, neutrophils, and dendritic cells, and injured epithelium?

Back 44

LFA-1; interacts with ICAM-1

Front 45

an increased level of what cytokine would decrease the likelihood of a delayed-type hypersensitivity reaction?

Back 45

IL-10

Front 46

what 2 molecules exert the most powerful chemotactic effect on neutrophils?

Back 46

C5a and C8

Front 47

what are the best markers for identification of B cells?

Back 47

CD19, CD20, CD21

Front 48

IgG subclass deficiency is associated with a deficiency with what other substrate?

Back 48

IgA

Front 49

what is C-reactive protein a marker of?

Back 49

non-specific inflammation - one of the most commonly measured acute-phase reactants