Autoimmune disease and Immnunodeficiency Syndromes

Question 1

Key underlying immune defects of autoimmune disease?

Answer 1

Immune reaction to self antigen mediated by:

autoantibodies

immune complexes

T-cells

Question 2

Two key factors leading to autoimmune disease?

Answer 2

1. inheritance of susceptibility genes

2. environmental triggers

Question 3

Typical clinical course of untreated autoimmune disease:

Answer 3

Progressive, inexorable tissue damage

Question 4

Self tolerance means?

Answer 4

Unresponsiveness to an individual’s own antigens.

Question 5

Gene defects most commonly associated with autoimmunity?

Answer 5

HLA

Question 6

Multiple organs

ANA positive

Immune complexes

Answer 6

SLE

Systemic Lupus Erythematosis

Question 7

Two ways to detect ANA in SLE?

Answer 7

1. immunoassay

2. indirect immunofluorescence

Question 8

Specific antibodies for:

dsDNA

Smith (Sm) antigen

Answer 8

SLE

Question 9

Anti-phospholipid antibodies = ?

Answer 9

SLE

**think hypercoagulation –> thrombosis/ischemia

Question 10

How does the environment play into SLE triggering?

Answer 10

Cell apoptosis (sunburn, estrogen, meds, etc.) –> increased nuclear antigen floating around for ANA’s to bind and cause reaction

Question 11

Main type of hypersensitivity associated with SLE?

Answer 11

Type III

Question 12

Pathology finding for SLE:

Answer 12

Acute necrotizing vasculitis –> can affect virtually any organ

Question 13

SOAP BRAIN MD stands for:

Answer 13

Serositis

Oral ulcers

Arthritis

Photosensitivity, Pulmonary fibrosis

Blood cells

Renal, Reynaud’s

ANA

Immunologic (anti-Sm, anti-dsDNA)

Neuropsych

Malar rash (classic BUTTERFLY rash)

Discoid rash

Question 14

Immune complex deposits on glomerulus of SLE look how? In contrast to what?

Answer 14

Lumpy

vs smooth in Goodpasture’s where Ig’s are specific for kidney?

Question 15

LE limited to skin?

Answer 15

Chronic Discoid LE

Question 16

Predominantly skin related LE with some systemic involvement

SS-A and HLA-DR3 genotype

Answer 16

Subacute Cutaneous LE

Question 17

Mainly attacks joints

Destroys cartilage

ankylosis

Answer 17

Rheumatoid Arthritis

Question 18

HLA-DRB1, PTPN22 genotype?

Answer 18

RA

Question 19

Autoantibodies for CCP?

Answer 19

RA

Question 20

dry eyes

dry mouth

middle age women

lymphocytic infiltration involving salivary and parotid glands

Answer 20

Sjogren Syndrome

Question 21

Autoantibodies to ribonucleoproteins SS-A and SS-B:

Answer 21

Sjogren Syndrome

Question 22

MALT lymphoma associated with?

Answer 22

Sjogren Syndrome

Question 23

Progressive interstitial FIBROSIS of the skin and multiple organs:

Answer 23

Systemic sclerosis

Question 24

Antibodies to Scl-70 (DNA Topo-1):

Answer 24

Systemic sclerosis

Question 25

Anti-centromere antibodies: **on the test?

Answer 25

CREST syndrome ``` Calcinosis Raynaud's Esophageal dysmotility Sclerodactyly Telangiectasia ```

Question 26

Skeletal muscle + skin involvement:

Answer 26

Dermatomyositis

Question 27

ALWAYS screen pts with dermatomyositis for:

Answer 27

Underlying malignancy

Question 28

Muscle and systemic involvement LACKING skin involvement?

Answer 28

Polymyositis

Question 29

Antibodies for Jo1?

Answer 29

Polymyositis

Question 30

What is Jo1?

Answer 30

histidyl t-RNA synthetase

Question 31

anti-U1-RNP antibody:

Answer 31

Mixed Connective Tissue Disease (MCTD)

Question 32

Failure of B-cell precursor development X-linked (mostly see in males) Btk

Answer 32

X-linked Agammaglobinemia aka Bruton's

Question 33

Significant blood smear finding of XLA?

Answer 33

No B-cells

Question 34

Sx onset in XLA?

Answer 34

6 months (when mom's Abs wear off) sinopulmonary bacterial infx

Question 35

Failure of B-cells to differentiate into plasma cells hyperplastic germinal centers in lymph nodes low Ig production

Answer 35

Common Variable Immunodeficiency

Question 36

Failure of B-cells to differentiate into IgA plasma cells

Answer 36

Isolated IgA deficiency

Question 37

failure of development of 3rd and 4th pharyngeal puches 22q11 deletion no T-cells

Answer 37

DiGeorge Syndrome Thymic hypoplasia-->no thymus = no T-cell maturation

Question 38

Defect in Ig class switching X-linked mutation of CD40 risk of Pneumocystis jiroveci

Answer 38

Hyper IgM syndrome

Question 39

Defects in both humoral and cell-mediated immunity rapidly fatal if no stem cell transplant autosomal recessive deficiency of ADA

Answer 39

SCID

Question 40

X-linked recessive WASP deficiency depleted T-cells low IgM

Answer 40

Wiskott-Aldrich Syndrome

Question 41

Inability to eliminate EBV severe Infectious Mono B-cell lymphoma SLAM protein

Answer 41

X-linked Lymphoproliferative syndrome

Question 42

CHS1/LYST defective phagocyte function giant cytoplasmic granules in lymphocytes autosomal recessive

Answer 42

Chediak-Higashi Syndrome

Question 43

Deficiency in MAC (complement system) increases risk for?

Answer 43

Neisseria infx

Question 44

Loss of what organ is big risk for secondary immunodeficiency?

Answer 44

Spleen * *particularly encapsulated organisms - Strep pneumo - Hib - N. meningitidis