Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Myeloperoxidase inheritance pattern?

A

Autosomal recessive

Clinically mild (late enzyme)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

People with this disease lack tonsils and adenoids

A

XLA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What type of leukocyte is needed to control Pneumocystis?

A

Macrophage!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the most common inherited immune deficiency?

A

IgA deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What are the gene mutations known so far in CVID?

A

TACI, CD19, ICOS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Clinical phenotype in Wiskott-Aldrich Syndrome:

A

Lack of antibody production to polysaccharide antigens, thrombocytopenia (& small platelets), eczema

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What is ataxia telangectasia?

A

T cell immunodeficiency

Defect in ATM gene (seronine/threonine kinase) involved in VDJ recombinations

autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Clinical phenotype in ataxia telangectasia?

A

Loss of coordination (ataxia)/gait disturbance, dilated capillaries of skin and conjunctiva, T cell immune deficiency, predisposition to leukemias and lymphomas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

DiGeorge Syndrome description, cause, and inheritance pattern

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Sjorgren Syndrome (Sicca syndrome): tissue/organ involvement, clinical presentation, and autoantibodies

A

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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Scleroderma (aka systemic sclerosis): tissue/organ involvement, clinical presentation, and autoantibodies

A

Involves skin & esophagus

Presents with fibrosis of hands, reflux in esophagus, and loss of facial expression

AutoAb: Scl-70

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Dermatomyositis: tissue/organ involvement, clinical presentation, and autoantibodies

A

Skeletal muscle & skin involvement

Presents with skin rash & skeletal muscle tenderness and weakness

AutoAb: anti-Jo-I

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Goodpasteur sydrome: tissue/organ involvement, clinical presentation, and autoantibodies

A

Involves kidney and lungs

Key clinical presentation: glomerulonephritis and pulmonary hemorrhage

AutoAb against glomerular basement membrane (seen as linear deposits; type II hypersensitivity)

33
Q

What are the five classic signs of glomerulonephritis?

A

Hypertension, Edema, Hematuria, Proteinuria, and RBC casts

34
Q

Reactive arthritis (formerly Reiter syndrome): tissue/organ involvement, clinical presentation, and autoantibodies

A

Involves urethra/cervix, joints, and eye

Presents with urethritis or cervicitis, arthritis, and conjunctivitis

Genetic predisposition: young males with HLA-B27

35
Q

Rheumatic fever: tissue/organ involvement, clinical presentation, and autoantibodies

A

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
Q

Rheumatoid arthritis: tissue/organ involvement, clinical presentation, and autoantibodies

A

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
Q

What tissues/organs are involved in SLE?

A

Skin, joints, kidney, serosal surfaces, CNS, heart, RBCs, WBCs, platelets

38
Q

What is Mixed Connective Tissue disease (MTCD)?

A

Autoimmune disease that presents with SLE, polymyositis, rheumatoid arthritis, systemic sclerosis/scleroderma

39
Q

Who is most likely to be affected by SLE?

A

African American women in their reproductive years

40
Q

Clinical presentation of SLE?

A

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
Q

How many SLE criteria do you need for diagnosis?

A

More than 4

42
Q

What levels of C4 and C3 do you expect in a patient with SLE?

A

Decreased levels (complement is consumed with immune complexes)

43
Q

In an asymptomatic patient with SLE, a decline in what will predict an episode of glomerulonephritis?

A

Complement

44
Q

What type of gammaglobulinemia is observed in chronic inflammatory, autoimmune or infectious conditions?

A

Polyclonal hypergammaglobulinemia (the gamma “hump” is higher than normal on the SE chart)

45
Q

Three steps of immune complex diseases?

A
  1. Formation of ICDs in circulation
  2. Deposition of ICDs in blood vessel walls/joints/serosa
  3. Inflammatory reaction at site of deposition
46
Q

What self-antigens are frequently targeted in collagen-vascular diseases?

A

Ubiquitous ones (non-organ specific) like DNA, histones, RNPs, nucleolar antigens

47
Q

What autoantibody test is commonly ordered as an initial screen for autoimmunity?

A

Antinuclear antibodies (ANA)

Rim pattern on ANA = SLE

Homogenous pattern on ANA = SLE, RA, or drug-induced ANA, etc

48
Q

What two systems are generally not involved in drug-induced LE?

A

Renal and CNS

49
Q

Most common causes of death in SLE?

A

Renal failure and intercurrent infections

50
Q

Maternal antibodies crossing the placenta can lead to the clinical manifestation of what?

A

Neonatal lupus

51
Q

Is SLE a humoral or CMI disease?

A

Humoral (type II and type III hypersensitivities)

52
Q

In what autoimmune disease would you expect to see Syndenham Chorea?

A

Rheumatic fever

53
Q

What is Lymphocytic Hypophysitis?

A

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
Q

What does IHC staining of lymphocytic hypophysitis often show?

A

Mixed infiltrate of CD3-positive T cells and CD20-positive B cells

55
Q

Streptococcus infection M protein has a cross-reactive self-antigen, cardiac myosin, that when attacked by antibodies causes what autoimmune disease?

A

Rheumatic Fever

56
Q

Klebsiella infection nitrogenase has a cross-reactive self-antigen, HLA-B27, that when attacked by antibodies causes what autoimmune diseases?

A

Reactive Arthritis (Reiter syndrome) and Ankylosing spondylitis

57
Q

Mycobacterial antigen, proteoglycan wall component, has a cross-reactive self-antigen, cartilage protein, that when attacked by antibodies causes what autoimmune disease?

A

Rheumatoid Arthritis

58
Q

What are three examples of sequestered antigens that can cause autoimmunity when exposed?

A

Retinal antigens following trauma, spermatozoa (in infertility), and myelin basic protein (MBP) in MS

59
Q

What autoantigens are present in T1DM?

A

Glutamic acid decarboxylase

60
Q

What autoantigens are present in Hashimoto thyroiditis?

A

Thyroperoxidase, thyroglobulin

61
Q

What autoantigens are present in Pernicious anemia?

A

H+/K+ ATPase pump

62
Q

What autoantigens are present in Celiac disease?

A

Transglutaminase

63
Q

What autoantigens are present in Graves Disease?

A

TSH receptor (agonistic autoantibody)

64
Q

What autoantigens are present in myasthenia gravis?

A

Acetyl choline receptor

65
Q

What autoantigens are present in MS?

A

Myelin basic protein

66
Q

What autoantigens are present in SLE?

A

dsDNA and anti-Sm (smith)

67
Q

Higher iodine intake is associated with what autoimmune disease?

A

Hashimoto’s thyroiditis

increased iodination of thyroglobulin increases its immunogenicity

68
Q

T1DM is associated with what congential syndrome?

A

Rubella

69
Q

What is Autoimmune Polyglandular Syndrome Type 1 (APS 1)? Inheritance mechanism?

A

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
Q

What is Autoimmune Polyglandular Syndrome Type 2 (APS 2)? Inheritance mechanism?

A

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
Q

What is IPEX syndrome?

A

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
Q

What is autoimmune proliferative disorder? Inheritance pattern?

A

Failure to control lymphocyte proliferation via Fas-FasL interactions

autosomal dominant

73
Q

How is Autoimmune Thyroid Disease inherited?

A

Autosomal dominant

74
Q

Which HLA alleles are associated with T1DM?

A

HLA-DR3 and HLA-DR4

75
Q

What HLA allele is protective for T1DM?

A

HLA-DR2

76
Q

HLA-DR2 is protective for T1DM but increases risk for what two diseases?

A

MS and SLE

77
Q

HLA-B27 is associated with what two diseases?

A

Ankylosing spondylitis and Reactive arthritis

78
Q

Among autoimmune diseases, which three “common” ones occur as often in men as in women?

A
  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)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions