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MS1 Spring > Immuno Diseases > Flashcards

Immuno Diseases Flashcards

1
Q

Cyclic Neutropenia: description, inheritance pattern, cause

A

Monthly neutropenia (cycles through highs and lows). Clinically serious during episodes of neutropenia

Mutation in Neutrophil elastase (ELANE)

Autosomal dominant

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2
Q

Chediak-Higashi Syndrome: description, inheritance pattern, cause, treatment

A

Abnormal WBC inclusions (Dohle bodies), lymphoma

Caused by LYST gene (lysosomal trafficking regulator)

Autosomal recessive

Treatment: bone marrow transplant

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3
Q

Myeloperoxidase inheritance pattern?

A

Autosomal recessive

Clinically mild (late enzyme)

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4
Q

Chronic Granulomatous Disease description, cause and inheritance pattern

A

“Broken” NADPH enzyme prohibits the creation of superoxide and inhibits phagocytes from digesting what they’ve taken up. We then end up with granulomas.

Inheritance pattern can be x-linked or autosomal recessive (multiple parts of NADPH enzyme can be defunct)

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5
Q

Leukocyte Adhesion Deficiency description and inheritance pattern

A

Defective leukocyte attachment to endothelium, defective entry of WBCs into sites of infection, and defective innate immune response leading to bacterial infection

Autosomal recessive

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6
Q

What are the two subtypes of Leukocyte Adhesions Deficiency and where is their defect?

A

LAD-1: CD18 deficiency (part of LFA-1 and MAC-1); decreased adhesion

LAD-2: Sialyl-Lewis^x deficiency; decreased rolling

***LAD-1 is more severe. Adhesion is more important than rolling

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7
Q

What is the clinical phenotype seen in a patient with Leukocyte Adhesion Deficiency?

A

Widespread bacterial infections in infancy, impaired pus formation, impaired wound healing, persistent leukocytosis, and delayed umbilical cord separation (LAD-1! About 3 weeks)

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8
Q

Bruton’s X-linked agammaglobulinemia (XLA) description, cause, inheritance pattern, treatment

A

Defective B-cell development. B-cells are arrested in the large Pre-B cell stage due to defective Bruton tyrosine kinase (BTK) enzyme.

Present in infancy/early childhood (have mom’s IgG at first!)

Problem with some viruses too like enterovirus, coxsackie, and echovirus

Also present with arthritis

X-linked recessive & rarely autosomal recessive

Treatment: IV immunoglobulins (IVIG)

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9
Q

Do men with XLA have follicles and germinal centers in their lymph nodes?

A

No, because they don’t have B cells to develop

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10
Q

People with this disease lack tonsils and adenoids

A

XLA

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11
Q

Hyper-IgM description and causes

A

Defective class switching (so we end up with a ton of IgM)

Defects in:
1. CD40L-CD40 signaling. CD40L on CD4 cell, CD40 on B cell, or signaling via NEMO to NFkB is broken

  1. B cell defects in AID (Activation-Induced cytidine deaminase) or UNG (Uracil-DNA-glycosylase - DNA repair enzyme)
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12
Q

What is the most common defect that causes Hyper-IgM syndrome and what is its inheritance pattern?

A

Broken CD40L on CD4 T Cell

X-linked recessive

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13
Q

Will there be issues with macrophage actions in hyper-IgM syndrome?

A

If there is a defect in CD40L-CD40 signaling (primarily issues with CD40L or the downstream TFs, aka NEMO) then yes

CD40 defects will affect B cells and the other class-switching defects are B cell specific

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14
Q

In a patient with hyper-IgM syndrome, were their B cells stimulated by thymus dependent or thymus independent antigen?

A

independent

we have defects in signaling between CD4 t cells and B cells! No message is getting between them

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15
Q

What type of leukocyte is needed to control Pneumocystis?

A

Macrophage!

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16
Q

What is the most common inherited immune deficiency?

A

IgA deficiency

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17
Q

What are the consequences of IgA deficiency?

A

Most people are asymptomatic; symptomatic if IgG deficiency also present

Sinopulmonary and GI tract infections present

**Sepsis does not occur because IgM and IgG are normal

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18
Q

What is transient hypogammaglobulinemia of infancy?

A

Delayed production of IgG by the infant. Eventually maternal IgG wanes and there is a transient period with low levels. Self-limited; eventually IgG production increases

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19
Q

What is common variable immunodeficiency (CVID)?

A

A late-onset form of panhypogammaglobulinemia. Onset in childhood or adulthood

Causes: defective terminal differentiation of B cell to plasma cell, defective T cell help to B cell or autoimmunity

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20
Q

What are the gene mutations known so far in CVID?

A

TACI, CD19, ICOS

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21
Q

IL-2R gamma chain deficiency description, cause, and inheritance pattern

A

Common gamma chain shared with multiple receptors is defective. Two of those receptors are necessary for T cell and NK cell development

X-linked recessive inheritance pattern

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22
Q

What would the levels of T cells, NK cells, and B cells be in a person with IL-2R gamma chain deficiency?

A

T Cell and NK cells would be deficient and B cells would be normal

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23
Q

Adenosine deaminase deficiency (ADA) description, cause, and inheritance pattern

A

ADA is needed for purine salvage pathway, without this the metabolites of ADA are toxic to common lymphoid precursor

Less CLP means less T, B, and NK cells

Autosomal recessive

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24
Q

What is Wiskott-Aldrich syndrome? Inheritance pattern?

A

T cell immunodeficiency

WASP protein defect involved in lymphocyte and platelet development (involved w/ cytoskeleton)

X-linked recessive

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25
Clinical phenotype in Wiskott-Aldrich Syndrome:
Lack of antibody production to polysaccharide antigens, thrombocytopenia (& small platelets), eczema
26
What is ataxia telangectasia?
T cell immunodeficiency Defect in ATM gene (seronine/threonine kinase) involved in VDJ recombinations autosomal recessive
27
Clinical phenotype in ataxia telangectasia?
Loss of coordination (ataxia)/gait disturbance, dilated capillaries of skin and conjunctiva, T cell immune deficiency, predisposition to leukemias and lymphomas
28
DiGeorge Syndrome description, cause, and inheritance pattern
Malformation of the 3rd & 4th pharyngeal pouches (endoderm!) leading to congenital heart disease: aortic arch, hypoparathyroidism (low calcium), thymic aplasia or hypoplasia, unusual facial appearance Autosomal dominant on chromosome 22
29
Sjorgren Syndrome (Sicca syndrome): tissue/organ involvement, clinical presentation, and autoantibodies
Destruction of lacrimal and salivary glands Presents with dry eyes (conjunctivitis, corneal ulceration, corneal perforation) and dry mouth (caries, oral cancer) AutoAb: SS-A/Ro, SS-B/La Note: can be primary (unassociated with other autoimmune diseases) or secondary (associated with other autoimmune diseases)
30
Scleroderma (aka systemic sclerosis): tissue/organ involvement, clinical presentation, and autoantibodies
Involves skin & esophagus Presents with fibrosis of hands, reflux in esophagus, and loss of facial expression AutoAb: Scl-70
31
Dermatomyositis: tissue/organ involvement, clinical presentation, and autoantibodies
Skeletal muscle & skin involvement Presents with skin rash & skeletal muscle tenderness and weakness AutoAb: anti-Jo-I
32
Goodpasteur sydrome: tissue/organ involvement, clinical presentation, and autoantibodies
Involves kidney and lungs Key clinical presentation: glomerulonephritis and pulmonary hemorrhage AutoAb against glomerular basement membrane (seen as linear deposits; type II hypersensitivity)
33
What are the five classic signs of glomerulonephritis?
Hypertension, Edema, Hematuria, Proteinuria, and RBC casts
34
Reactive arthritis (formerly Reiter syndrome): tissue/organ involvement, clinical presentation, and autoantibodies
Involves urethra/cervix, joints, and eye Presents with urethritis or cervicitis, arthritis, and conjunctivitis Genetic predisposition: young males with HLA-B27
35
Rheumatic fever: tissue/organ involvement, clinical presentation, and autoantibodies
Involves heart, joints, CNS, and skin Presents with carditis/valvulitis, arthritis, Syndenham chorea (St. Vitus dancing), Erythema marginatum & subcutaneous nodules Caused by cross reaction of M protein after group A beta-hemolytic streptococcus infection
36
Rheumatoid arthritis: tissue/organ involvement, clinical presentation, and autoantibodies
Involves joints (+/- fever and extra-articular disease) Presents with destructive, erosive arthritis, systemic inflammation, rheumatoid nodules & vasculitis, pleural-pulmonary manifestations. Ulnar deviation of hands common AutoAb: Rheumatoid factor & Anti-CCP (better marker for RA)
37
What tissues/organs are involved in SLE?
Skin, joints, kidney, serosal surfaces, CNS, heart, RBCs, WBCs, platelets
38
What is Mixed Connective Tissue disease (MTCD)?
Autoimmune disease that presents with SLE, polymyositis, rheumatoid arthritis, systemic sclerosis/scleroderma
39
Who is most likely to be affected by SLE?
African American women in their reproductive years
40
Clinical presentation of SLE?
KNOW THESE: Glomerulonephritis, splenomegaly, pleuritis (pain on inspiration), pleural effusion, heart issues Plus: malar rash, discoid rash, arthritis, occlusion of small blood vessels leading to seizures and psychosis, hemolytic anemia
41
How many SLE criteria do you need for diagnosis?
More than 4
42
What levels of C4 and C3 do you expect in a patient with SLE?
Decreased levels (complement is consumed with immune complexes)
43
In an asymptomatic patient with SLE, a decline in what will predict an episode of glomerulonephritis?
Complement
44
What type of gammaglobulinemia is observed in chronic inflammatory, autoimmune or infectious conditions?
Polyclonal hypergammaglobulinemia (the gamma "hump" is higher than normal on the SE chart)
45
Three steps of immune complex diseases?
1. Formation of ICDs in circulation 2. Deposition of ICDs in blood vessel walls/joints/serosa 3. Inflammatory reaction at site of deposition
46
What self-antigens are frequently targeted in collagen-vascular diseases?
Ubiquitous ones (non-organ specific) like DNA, histones, RNPs, nucleolar antigens
47
What autoantibody test is commonly ordered as an initial screen for autoimmunity?
Antinuclear antibodies (ANA) Rim pattern on ANA = SLE Homogenous pattern on ANA = SLE, RA, or drug-induced ANA, etc
48
What two systems are generally not involved in drug-induced LE?
Renal and CNS
49
Most common causes of death in SLE?
Renal failure and intercurrent infections
50
Maternal antibodies crossing the placenta can lead to the clinical manifestation of what?
Neonatal lupus
51
Is SLE a humoral or CMI disease?
Humoral (type II and type III hypersensitivities)
52
In what autoimmune disease would you expect to see Syndenham Chorea?
Rheumatic fever
53
What is Lymphocytic Hypophysitis?
Lymphocytic hypophysitis is a condition in which the pituitary gland becomes infiltrated by lymphocytes , resulting in pituitary enlargement and impaired function. Believed to be an autoimmune disease. Only way to diagnose is via biopsy
54
What does IHC staining of lymphocytic hypophysitis often show?
Mixed infiltrate of CD3-positive T cells and CD20-positive B cells
55
Streptococcus infection M protein has a cross-reactive self-antigen, cardiac myosin, that when attacked by antibodies causes what autoimmune disease?
Rheumatic Fever
56
Klebsiella infection nitrogenase has a cross-reactive self-antigen, HLA-B27, that when attacked by antibodies causes what autoimmune diseases?
Reactive Arthritis (Reiter syndrome) and Ankylosing spondylitis
57
Mycobacterial antigen, proteoglycan wall component, has a cross-reactive self-antigen, cartilage protein, that when attacked by antibodies causes what autoimmune disease?
Rheumatoid Arthritis
58
What are three examples of sequestered antigens that can cause autoimmunity when exposed?
Retinal antigens following trauma, spermatozoa (in infertility), and myelin basic protein (MBP) in MS
59
What autoantigens are present in T1DM?
Glutamic acid decarboxylase
60
What autoantigens are present in Hashimoto thyroiditis?
Thyroperoxidase, thyroglobulin
61
What autoantigens are present in Pernicious anemia?
H+/K+ ATPase pump
62
What autoantigens are present in Celiac disease?
Transglutaminase
63
What autoantigens are present in Graves Disease?
TSH receptor (agonistic autoantibody)
64
What autoantigens are present in myasthenia gravis?
Acetyl choline receptor
65
What autoantigens are present in MS?
Myelin basic protein
66
What autoantigens are present in SLE?
dsDNA and anti-Sm (smith)
67
Higher iodine intake is associated with what autoimmune disease?
Hashimoto's thyroiditis | increased iodination of thyroglobulin increases its immunogenicity
68
T1DM is associated with what congential syndrome?
Rubella
69
What is Autoimmune Polyglandular Syndrome Type 1 (APS 1)? Inheritance mechanism?
Mutations in AIRE (autoimmune regulator gene that is a TF). Autosomal recessive Must have 2/3: 1. Addison disease (or adrenal autoantibodies) 2. Mucocutaneous candidiasis 3. Hypoparathyroidism Also called APECED. Presents as early as infancy
70
What is Autoimmune Polyglandular Syndrome Type 2 (APS 2)? Inheritance mechanism?
Polygenic inheritance affecting women more than men. Onset in childhood or early adulthood Diagnosed when Addison's Disease occurs together with autoimmune thyroid disease (Hashimoto>Graves) and/or T1DM
71
What is IPEX syndrome?
Immunodysregulation Polyendocrinopathy Entereopathy X-linked X-linked recessive inheritance Mutations in FoxP3 (normally expressed in Tregs). Without FoxP3 you can't immunmodulate All kinds of autoimmune presentations. He showed Bullous Pemphigoid!!
72
What is autoimmune proliferative disorder? Inheritance pattern?
Failure to control lymphocyte proliferation via Fas-FasL interactions autosomal dominant
73
How is Autoimmune Thyroid Disease inherited?
Autosomal dominant
74
Which HLA alleles are associated with T1DM?
HLA-DR3 and HLA-DR4
75
What HLA allele is protective for T1DM?
HLA-DR2
76
HLA-DR2 is protective for T1DM but increases risk for what two diseases?
MS and SLE
77
HLA-B27 is associated with what two diseases?
Ankylosing spondylitis and Reactive arthritis
78
Among autoimmune diseases, which three "common" ones occur as often in men as in women?
1. T1DM 2. Ankylosing spondylitis (Side note: associated with Klebsiella infection and HLA-B27 too!) 3. Polyarteritis nodosa (type of vasculitis)

MS1 Spring (10 decks)

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