Immunology: Autoantibodies And Immune Deficiencies

Front 1

antinuclear antibody (ANA)

Back 1

SLE (lupus)

Front 2

antibodies that are specific for SLE (lupus)

Back 2

anti-dsDNA, anti-smith

Front 3

Antihistone

Back 3

drug induced lupus

Front 4

antibody in rheumatoid arthritis

Back 4

anti-IgG rheumatoid factor

Front 5

anticentromere antibodies

Back 5

scleroderma (CREST) calcinosis, Raynaud's phenomeon, esophageal dysmotility, sclerodactyly, telangictasia

Front 6

what are the antibodies associated with diffuse scleroderma?

Back 6

anti-scl 70 (anti-DNA toposiomerase I)

Front 7

antimitochondrial antibody

Back 7

primary biliary cirrhosis

Front 8

anti-basement membrane antibody

Back 8

Goodpasture's disesae

Front 9

antibody in pemphigus vulgaris

Back 9

anti-desmoglein also anti-epithelial cell antibody (potentially fatal autoimmune skin disorder with IgG antibody against desmosomes - get intraepidermal bullae involving skin and oral mucosa - positive nikolsky's sign (separation of epidermis upon manual stroking of skin)

Front 10

antimicrosomal, antithyroglobulin antibodies

Back 10

hashimoto's thyroditis

Front 11

Anti-Jo 1 antibody

Back 11

polymyositis, dermatomyositis
polymyositis: progressive symmertric proximal muscle weakness - often involves shoulders
dermatomyositis: similar to polymyositis but involves malar rash, mechanic's hands, shawl and face rash, grotton's papules, increased risk of malignancy

Front 12

Antibodies in Sjogren's syndrome

Back 12

anti-SS-A (anti-Ro) and anti-SS-B (anti-La)
Sjogren's syndrome: dry eyes, dry mouth, and arthritis

Front 13

Anti-U1 RNP (ribonucleoprotein)

Back 13

Mixed connective tissue disease

Front 14

anti-smooth muscle

Back 14

autoimmune hepatitis

Front 15

Anti-glutamate decarboxylase

Back 15

type 1 DM

Front 16

c-ANCA

Back 16

Wegener's granulomatosis

Front 17

p-ANCA

Back 17

other vasculitides

Front 18

Defect in BTK a tyrosine kinase gene causes what defect?

Back 18

X-linked burton's agammaglobulinemia (most common in boys): B cell maturation is blocked

Front 19

What defect does a child have if they have recurrent bacterial infections after 6 months? Why at that point?

Back 19

They have Burton's agammaglobulinemia
Occurs at 6 months because that is when the baby has decreased IgG from mom - has problems with opsonization

Front 20

What are the labs seen in Burton's agammaglobulinemia?

Back 20

Normal pro-B, decreased B cell maturation, decreased number of B cells, all immunoglobulins are decreased

Front 21

A defect in CD40L causes what?

Back 21

Hyper-IgM syndrome - because the antibody is unable to class switch
CD40L is on T cells

Front 22

What is the defect in a child that has recurrent pyogenic infections early in life? What would labs show?

Back 22

Hyper-IgM syndrome: increased levels of IgM, decreased levels of IgG, IgA, IgE

Front 23

What is selective Ig deficiency? What is the most common one?

Back 23

A defect in isotype switching - deficiency in a specific class of immunoglobulins
most common: IgA deficiency

Front 24

What does a child have if they have sinus and lung infections, milk allergies and diarrhea? What would cause them to have an anaphylactic reaction?

Back 24

selective IgA deficiency (most common of the selective Ig deficiencies).
giving the child IgA would cause them to have an anaphylatic reaciton

Front 25

What is common variable immunodeficiency (CVID)?

Back 25

defect in B-cell maturation; there are many causes

Front 26

What immunodeficiency can be acquired in the 20-30's, they have an increased risk of autoimmune disease, lymphoma and sinopulmonary infections

Back 26

CVID

Front 27

What are the labs in CVID?

Back 27

normal number of B cells, decreased levels of plasma cells (cells that actively secrete antibody) and immunoglobulins

Front 28

What syndrome is caused by 22q11 deletion? What fails to develop? What are some symptoms they would have?

Back 28

DiGeorge - CATCH 22
Cardiac anomlies
Abnormal facies
T-cell aplasia
Cleft palate
Hypocalcemia

Front 29

What failed to develop in 22q11 deletion?

Back 29

3rd and 4th branchial pouches

Front 30

What does IL-12 receptor deficiency cause?

Back 30

decreased Th1 response

Front 31

What condition do you have if you have disseminated mycobacterial infections?

Back 31

IL-12 receptor deficiency

Front 32

What labs will you see in IL-12 receptor deficiency?

Back 32

decreased IFN-y

Front 33

What stimulates Th1 cells to be made?

Back 33

IL-12

Front 34

What stimulates Th2 cells to be made?

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IL-4

Front 35

What inhibits Th1 cells to be made?

Back 35

IL-10

Front 36

What inhibit Th2 cells to be made?

Back 36

IFN-y

Front 37

What does Th1 cells make?

Back 37

IL-2, IFN-y

Front 38

What is Job's syndrome? What labs will you see in it?

Back 38

Hyper-IgE syndrome
increased levels of IgE

Front 39

If Th cells fail to produce IFN-y - you have an inability of neutrophils to respond to chemotactic stimuli what do you have?

Back 39

Hyper IgE syndrome
FATED: facies (coarse), abscesses (cold staphyloccal), teeth (retained primary teeth), increased IgE, Dermatologic problems (eczema)

Front 40

What do you have if you have chroinc mucocutaneous candidasis?

Back 40

T cell dysfunction - would have candida albicans infections of the skin and mucous membranes

Front 41

If a child has IL-2 receptor deficiency what do they have? What are other forms of it?

Back 41

SCID - severe combined immunodeficiency
x-linked recessive
Other forms include: adenosine deaminase deficiency, failure to synthesize MHC II antigens

Front 42

If a child has adenosine deaminase deficiency what do they have? What symptoms would they have?

Back 42

SCID
recurrent viral, bacterial, fungal, and protozoal infections due to both B and T cells deficiency

Front 43

What is the treatment for SCID? What are the labs?

Back 43

Tx. bone marrow transplant (no allograft rejection)
Labs: decreased IL-2 receptor (decreased T cell activation)
increased adenine (toxic to B and T cells), decreased dNTP's and decreased DNA synthesis

Front 44

What is toxic to both B and T cells? what disorder is this thing high?

Back 44

adenine - high in SCID

Front 45

What disorder do you have if you have a defect in DNA repair enzymes?

Back 45

ataxia-telangiectasia

Front 46

What are symptoms of ataxia-telangiectasia?

Back 46

cerebellar dysfunction (ataxia), spider angiomas (telangiectasia), IgA deficiency

Front 47

What labs would you see in ataxia-telangiectasia?

Back 47

Decreased IgA levels

Front 48

What is LAD 1?

Back 48

Defect in LFA-1 integrin (CD18) protein on phagocytes (neutrophils)

Front 49

If a child has recurrent bacterial infections, absent pus formation and delayed separation of the umbilicus what do they have?

Back 49

LAD-1 : problem with integrins (CD18)

Front 50

What would a child's lab be if they had delayed separation of the umbilicus?

Back 50

LAD -1 : would have neutrophilia (b/c would have problem with tight binding, so all the PMN's would be in the blood)

Front 51

What is a x-linked defect that has progressive deletion of B and T cells? What are the symptoms?

Back 51

wiskott-aldrich syndrome
TIE
Thrombocytopenic purpura, infections, ecxema

Front 52

What are the labs with someone with wiskott-aldrich?

Back 52

increased IgE and IgA decreased IgM

Front 53

What is the condition that is autosomal recessive; and a defect in microtubular function with decreased phagocytosis

Back 53

Chediack-Higashi syndrome (lazy neutrophil)

Front 54

What would the presentation be of someone with Chediack-Higashi syndrome?

Back 54

recurrent pyogenic infections by staph and strep, partial albinism, peripheral neruopathy

Front 55

What disease is caused by a lack of NADPH oxidase?

Back 55

Chronic graulomatous disease

Front 56

What is the problem in CGD?

Back 56

lack of NADPH oxidase - decreased reactive oxygen species (superoxide) and absent respiratory burst in neutrophils

Front 57

What is LAD 1?

Back 57

Defect in LFA-1 integrin (CD18) protein on phagocytes (neutrophils)

Front 58

What is the presentation of someone with CGD?

Back 58

recurrent infections with catalase positive organisms (S. aureus, E.coli, Aspergillus) - b/c they inhibit the phagocyte from using their superoxide

Front 59

If a child has recurrent bacterial infections, absent pus formation and delayed separation of the umbilicus what do they have?

Back 59

LAD-1 : problem with integrins (CD18)

Front 60

What would a child's lab be if they had delayed separation of the umbilicus?

Back 60

LAD -1 : would have neutrophilia (b/c would have problem with tight binding, so all the PMN's would be in the blood)

Front 61

What is a x-linked defect that has progressive deletion of B and T cells? What are the symptoms?

Back 61

wiskott-aldrich syndrome
TIE
Thrombocytopenic purpura, infections, ecxema

Front 62

What are the labs with someone with wiskott-aldrich?

Back 62

increased IgE and IgA decreased IgM

Front 63

What is the condition that is autosomal recessive; and a defect in microtubular function with decreased phagocytosis

Back 63

Chediack-Higashi syndrome (lazy neutrophil)

Front 64

What would the presentation be of someone with Chediack-Higashi syndrome?

Back 64

recurrent pyogenic infections by staph and strep, partial albinism, peripheral neruopathy

Front 65

What disease is caused by a lack of NADPH oxidase?

Back 65

Chronic graulomatous disease

Front 66

What is the problem in CGD?

Back 66

lack of NADPH oxidase - decreased reactive oxygen species (superoxide) and absent respiratory burst in neutrophils

Front 67

What is the presentation of someone with CGD?

Back 67

recurrent infections with catalase positive organisms (S. aureus, E.coli, Aspergillus) - b/c they inhibit the phagocyte from using their superoxide

Front 68

Someone with a negative nitroblue tetraxolium dye reduction test has what condition?

Back 68

CGD - normal individuals have a normal test