immune Disease Flashcards
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1
Q
Muscle biopsy of Polymyiositis will show
A
Endomysial inflammation with CD8+ T cells
2
Q
Polymyositis/dermatomyositis positives Antibodies
A
⊕ANA, ⊕anti-Jo-1, ⊕anti-SRP, ⊕anti-Mi-2 .
3
Q
Pt with Gottron papules and “mechanic’s hands”
A
dermatomyositis
4
Q
heliotrope rash , “shawl and face” rash are for this myopathy
A
dermatomyositis
5
Q
Gottron papules
A
Small purple or red flat papules on extensor surfaces, particularly the elbows and joints of the hand (Gottron papules).
6
Q
Gottron papules biopsy will show
A
acanthosis, hyperkeratosis, focal vacuolar alteration of the basal cell layer, and perivascular inflammatory infiltrat
7
Q
Bilious vomiting in an infant should be considered diagnostic of _______ until proven otherwise.
A
Midgut malrotation w/ volvulus until proven otherwise
8
Q
keratoderma blennorrhagica, a papulosquamous skin rash on the palms and soles, is seen in which dz
A
Reactive Arthritis
9
Q
Thymomas occur in approximately __% of patients with MG.
A
10%
10
Q
This paraneoplasic syndrome is associated with small cell lung cancer.
A
Lambert-Eaton myasthenic syndrome (LEMS).
11
Q
Pathogenesis of Lambert-Eaton myasthenic syndrome (LEMS).
A
Pre-synaptic Voltage-gated calcium channel antibodies
12
Q
Myasthenia gravis epidemiology according sex
A
Women teens-20s, Men after age 60
13
Q
Antigliadin antibodies are found in patients with:
A
celiac disease
14
Q
Bullous pemphigoid (BP) is associated with a ? Nikolsky sign
A
Negative. the blisters do not exfoliate when rubbed.
15
Q
BP is caused by an autoimmune attack against
A
hemidesmosomes,
16
Q
Pemphigus bulgaris is caused by an autoimmune attack against
A
Desmosomes
17
Q
Pemphigus vulgaris, which has a ? Nikolsky sign
A
Positive
18
Q
Dermatomyositis criteria (5)
A
Symmetric proximal muscle weakness
Characteristic heliotrope rash (shown in the image)
Elevated serum muscle enzymes
Myopathic changes on electromyography
Muscle biopsy abnormalities with the absence of histopathologic signs of other myopathies.
19
Q
Anti-desmoglein (anti-desmosomes) seen in
A
Pemphigus vulgaris
20
Q
Criteria for Churg Strausss (4/6)
A
- asthma
- eosinophilia (complete blood count with differential eosinophilia >10%)
- paranasal sinusitis
- pulmonary infiltrates
- histologic proof of vasculitis with extravascular eosinophils
- mononeuritis multiplex or polyneuropathy.
21
Q
anti-neutrophil cytoplasmic antibodies (ANCA) are for:
A
allergic (eosinophilic) granulomatosis and angiitis which is a small-vessel vasculitis
Churg Strauss.
22
Q
IL-12 deficiency: cannot trigger differentiation T cells to:
A
Th1 cells
23
Q
If Th1 is defficient, Th1 will not produce
A
IFN gamma
24
Q
In IL-12 deficiency, pts have ↑ susceptibility to disseminated …
A
mycobacterial and Salmonella infections
also disseminated BCG after vaccination
25
Treatment of IL-12 deficiency is
IFN gamma
26
Terminal deficiency of complement (c5-c9) put you at risk for what type of infections?
Prone to Neisseria infections.
27
Early complement deficiency put you at risk for what type of infections?
Pyogenic infections. Increased risk of SLE
28
>80% of patients with MPGN II are positive for:
Serum C3 nephritic factor (C3NeF), an autoantibody directed against C3bBb, the convertase of the alternative pathway of complement
29
Hepatitis B antibody complexes are involved frequently in which Vasculitis?
PAN
30
in RA 70% of pts are positive for this haplotype
HLA-DR4 haplotype
31
X-linked agammaglobulinemia (Bruton’s disease) is caused by a mutation in what gene?
Bruton Tyrosine Kinase gene
32
Pathogenisis of (Bruton’s disease)
B cells fail to mature. Males with XLA have a total or almost total absence of B lymphocytes and plasma cells.
33
The genes for the HLAs are located in the MHC
| on chromosome ___
6
34
What cells mediate most graft rejections?
CD81 cytotoxic T cells and macrophages (activated by CD41 T cells)
35
When proto-oncogenes become altered or damaged, they are termed:
oncogenes
36
Name the tissue resident form of macrophages in
1. Liver
2. Dermis
3. Lung
4. Brain
5. Bone
```
Kupffer cells (liver), histiocytes (dermis), alveolar
macrophage (lung), microglia (brain), and osteoclasts (bone).
```
37
Molecular defect in Omenn Syndrome
Missense mutations in RAG genes. The RAG enzymes only have partial activity
38
Molecular defect in Severe Combined Immunodeficiency
No RAG enzyme activity. Total lack of B and T cells
39
Wiskott-Aldrich syndrome triad:
1. thrombocytopenic purpura
2. multiple infections
3. eczema
40
How will you expect immunoglobulins in Wiskott-Aldrich syndrome
Decreased IgM, increased IgE/IgA
41
Wiskott-Aldrich syndrome is a B and T cell immunodeficiency, which is caused by a defect in what gene ?
WASP gene in X chromosome
42
Delayed separation of the umbilical cord (> 4 weeks) is a classic finding, as are recurrent bacterial infections and the absence of pus formation
LAD
| Leukocyte adhesion deficiency
43
How do you expect the nitroblue tetrazolium (NBT) test in chronic granulomatous disease?
Negative
44
What would you see in a peripheral blood smear of a patient with leukocyte adhesion deficiency type 1 (LAD-1)?
Neutrophilia is observed due to the inability of neutrophils to exit the bloodstream.
45
What is observed in neutrophils in Chediak-Higashi syndrome?
Giant granules
46
Patients with tuberculoid leprosy have granulomas that have elevated amounts of :
IL-2, IFN-γ, and
| TNF-β.
47
CD25-positive TReg cells have been shown to have
| a role in maintenance of
Self tolerance. They secrete IL-10 which is anti infammatory. Defects in TReg are associated with autoimmune disease
48
Describe Direct Coombs test
Adding Coombs Serum (antihuman gammaglobulin) to the baby's RBCs will cause aglutination. If the child is developing hemolytic disease of the NB, then his RBCs will be coated with maternal anti Rh antibodies.
49
Lab shows Normal levels of pro B cells but decreased levels of all classes of immunoglobulins. Dx
Bruton´s agammaglobulinemia
50
Absent tonsils think in ____
Bruton´s agammaglobulinemia
51
You need to give washed RBCs transfusion to pts with which type of Immunodeficiency?
Selective IgA Deficiency
52
Anaphylaxis after tranfusion, increased susceptibility to Giardiasis, think in _______
Selective IgA Deficiency
53
This immunodeficiency can present in the 2nd/3rd decade of life and
CVID
54
This pathology arises from the failure of the 3rd and 4rd pharyngeal pouches to develop
DiGeorge syndrome
55
Mode of Inheritance of Job Syndrome
AD (hyper IgE)
56
Mutation of Job Syndrome is in which gene?
STAT3
57
Chronic Mucocutaneous Candidiasis is tipically a manifestation of dysruption in IL- _____
IL-17 or IL-17 receptor
58
Severe Combined immunodeficiency findings (LAB/ CXR)
Absence of thymic shadow, and T cells on flow cytometry
59
Child presents w/ FTT, chronic diarrhea, thrush and recurrent infections, think in
Severe Combined immunodeficiency
60
Mention the 3 possible defects causing Severe Combined immunodeficiency
R A M
1. MOST common is a mutation of the common γ chain of IL-2 Receptor (X chromosome)
2. ADA (adenosine Deaminase) deficiency
3. MHC II
61
Severe Combined immunodeficiency mode of inheritance
X linked 50% of pts are male
| other is AR
62
Triad of ataxia telengactasia
IgA deficiency
63
This condition is characterized for a defect in the CD40 ligand on Th cells:
Hyper IgM syndrome (no class switching)
64
Severe pyogenic infections, Cryptosporidium, pneumocystis early in life and Increased level of IgM, dx is
Hyper IgM syndrome
65
Defect in LFA-1 integrin protein also known as CD18 (normally on phagocytes) gives rise to which immunodeficiency
LAD
66
Absent pus formation in ...
LAD
67
Chediak- Higashi syndrome inheritance is
AR `
68
Name catalase positive organisms
| CGD pts are prone to this infections
```
Staphylococci. aureus
Pseudomonas aeroginosa.
Aspergillus fumigatus.
Candida albicans.
Enterobacteriaceae (Klebsiella, Serratia)
```
69
nitroblue tetrazolium test is negative in CGD, why?
bc the absence of superoxide prevents reduction of the dye. Fails to turn Blue
Nl people turn Blue
70
What is the most modern test to dx CGD?
Abnl Dihydrorhodamine, neg flow cytometry leads to decreased green fluorescence
71
This SLE antibodies are specific but not prognostic
anti-Smith
72
Anitbodies that are specific for SLE and indicate a poor prognosis:
anti-dsDNA
73
This antibodies are considered sensitive but not specific for SLE;
antinuclear antibodies,
74
antiphospholipid antibodies are present in close to half of patients with_____
SLE
75
What ca give you a false-positive result in the VDRL test?
antiphospholipid autoantibodies that are seen in roughly 40% of SLE patients can react to the cardiolipin antigen used in syphilis serology, thus giving a false positive test
76
Wiskott-Aldrich syndrome. Immunoglobulins and platelet level expected?
low to normal IgG, IgM.
increased IgE, IgA.
Fewer and smaller platelets.
77
IF Immuno Fluorescence findings in Acute poststreptococcal glomerulonephritis
(“starry sky”) granular appearance (“lumpy-bumpy”) due to IgG, IgM, and C3 deposition along GBM and mesangium
78
Finding of Rapidly progressive (crescentic) glomerulonephritis in IF (immunofluorescence)
Linear IF due to antibodies to GBM and alveolar basement membrane: Goodpasture syndrome—hematuria/hemoptysis
Granular IF—PSGN or DPGN
79
Finding of Rapidly progressive (crescentic) glomerulonephritis in LM
LM—crescent moon shape . Crescents consist of fibrin and plasma proteins (eg, C3b) with glomerular parietal cells, monocytes, macrophage
80
Diffuse proliferative glomerulonephritis often seen in
SLE
81
LM findings in DPGN
LM—“wire looping” of capillaries
82
EM—“Basket-weave” think in
Alport syndrome "can’t see, can’t pee, can’t hear a bee"
83
Treatment of ITP can include:
steroids, IVIG, and in refractory cases, splenectomy.
84
Pappenheimer bodies are seen in???
sideroblastic anemia
85
rare granulomatous vasculitis affecting small vessels associated w/ p-ANCA
Churg-Strauss
86
c-ANCA is associated with
Granulomatosis with polyangiitis (previously known as Wegener granulomatosis).
87
Is the cause of more than half the deaths that occur in patients with Churg-Strauss syndrom
Cardiomyopathy
88
Sinusitis/nasopharyngeal ulceration, hemoptysis, and hematuria; a petechial rash is not characteristic of this condition.
granulomatosis with polyangiitis (formerly called Wegener granulomatosis)
89
Is a medium-vessel vasculitis that is not pANCA positive. It typically involves the kidneys and other visceral organs, but spares the lungs. It is associated with abdominal pain, foot drop, fever, muscle and joint aches, and decreased appetite.
Polyarteritis nodosa
90
Goodpasture sx is a type II hypersensitivity reaction in which autoantibodies cross-react with the α-3 chain of ___ in both the pulmonary alveolar and glomerular b.m.
type IV collagen
91
This graft rejection is mediated by the recipient's cytotoxic T lymphocytes destroy the graft within weeks to months of the transplant.
Acute
92
GVHD can occur after _____/______transplantation
bone marrow or liver
93
______is due to grafted donor immunocompetent T-cells that reject host cells.
GVHD
94
GVHD is which type of HS ??
Type IV
95
This disease is the most common form of systemic vasculitis in children. Most patients make a complete recovery.
Henoch-Schönlein purpura
96
Spike and dome” on electron microscopy is associated with
membranous glomerulonephritis
97
Foot process effacement on electron microscopy is associated with
minimal change disease.
98
Linear immunofluorescence on electron microscopy is consistent with
Goodpasture syndrome.
99
Classic triad of Henoch-Schönlein purpura
Skin: palpable purpura on buttocks/legs
Arthralgias
GI: abdominal pain (associated w- intussusception)
100
Guillain-Barré syndrome (GBS) is also known as
acute inflammatory demyelinating polyradiculoneuropathy (AIDP).
101
in Guillain-Barré syndrome Antibodies against C. jejuni inappropriately target the ???? of peripheral nerves
endoneurium
102
Autoimmune hemolytic anemia can be caused by which 2 drugs
Penicillin and Methyldopa
103
This infection induces antibodies vs RBCs and can induce Autoimmune hemolytic
Mycoplasma pneumonia
104
Rheumatic fever is HS type:
II (strep antibodies cross react with cardiac myocytes)
105
Instances where you can see Serum sickness nowadays (rare)
When people are passively immunized with Rabies or Tetanus'antitoxin
Monoclonal antibodies Rituximab-infliximab
106
PAN in HS type....
Type III HS
107
Multiple sclerosis is type HS
type IV
108
SLE and RA are very common 20-30% in what immunodeficieny?
selective IgA def
109
which immunodef gives you a false positive beta hcg test?
selective IgA def up to 30% pts with def IgA will test ¿ due to heterophile antibodies
110
This immunodef is often sporadic-no family history
SCID
111
Pathology is SCID is
defective B cell maturation, no plasma cells no antibodies. Normal B cell count but no antibodies
112
Defective CD4 + Th17 cells that fail to produce IL-17
| Loss of attraction of neutrophils
Jobs Syndrome Hyper IgE, loss of INF gamma
113
CV eczema in first days of life, staph abscesses that are cold, recurrent sinusitis and otitis and facial deformities (retained 1ry teeth) seen in which immunodef
obs Syndrome Hyper IgE,
114
Chronic Mucocutaneous Candidiasis is associated with defects in which genes
AIRE genes (Dectin-1)
115
primary T cell problem, fail to react w/ candida albicans, also associated w/ which pathologies?
Chronic Mucocutaneous Candidiasis with hypo parathyroidism and adrenal insufficiency
116
newborn screening for SCID is called
TRECS (t cell recombinant excision circles)
117
Ataxia telangiectasia gene defective is ___ on chromosome
ATM gene on ch 11 --- failure to repair DNA mutations Non-homologous end joining (NHEJ) is a pathway that repairs double-strand breaks in DNA
118
usually pts w Ataxia telangiectasia die from
Malignancy
119
WAS protein is necessary for T cell ___________
cytoskeleton maintenance
120
Mutation in Chediak Higashi Syndrome:
LYST gene Lysosomal Trafficking Regulator -causes microtuble dysfunction
121
systemic juvenile idiopathic arthritis occurs in children younger than____
When the disease occurs in pts older than 16 yo is known as ____
16 years old
| Still disease
122
in sJIA the fever must be present for
more than 2 weeks
123
in sJIA the arthritis must be present for more than
6 weeks
124
In warm reactive autoimmune hemolytic anemia, which antibodies attach to RBCs with maximal reactivity at 37 C???
IgG
125
What is the role of corticosteroids in warm reactive autoimmune hemolytic anemia
Corticosteroids inhibit the Fc receptor-mediated clearance of sensitized erythrocytes. Steroids may also diminish the production of the autoantibodies
126
What is Rho(D) immune globulin IV (RhoGAM)?
An antibody to the Rh antigen, it is given to the mother and will help destroy Rh-positive cells (from the first newborn) that the mother may become exposed to, so it prevents the mom to mount an immune response against future fetos.
127
In hemolytic disease, which antibodies can cross the placenta *2nd preganncy) and enter the fetal circulation, where they cause hemolysis??
anti-Rh IgG antibodies
128
The best immediate treatment for an infant with hemolytic disease of the newborn is
to exchange the Rh-positive blood with Rh-negative blood.
129
in IgA nephropathy (also called Berger disease)a renal biopsy specimen will show:
Mesangial deposits of IgA
130
This disorder is the most common cause of primary glomerulonephritis.
IgA nephropathy (also called Berger disease)
131
Classic presentation of Rheumatoid arthritis
- joint pain & morning stiffness that lasts > 30 min
- improves with activity
- symmetric presentation
- typically involves the metacarpophalangeal joints
132
Classic finding in this dz is eosinophils in urine
Acute interstitial nephritis
133
Acute interstitial nephritis biopsy is
usually nl
134
Acute interstitial nephritis is an allergic reaction to
Drugs
135
The classic pentad of thrombotic thrombocytopenic purpura (TTP) is
1. microangiopathic hemolytic anemia (MAHA),
2. thrombocytopenia
3. neurologic
4. renal abnormalities
5. fever,
136
microangiopathic hemolytic anem ia:
schistocytes, elevated LDH, and indirect hyperbilirubinemia
137
Child w/ type 1 DM. Screen for:
```
Autoimmune thyroiditis and Celiac disease.
Autoimmune thyroiditis (HLA-DR3) and celiac disease (HLA-DR3 and HLA-DR4).
```
138
Anticentromere antibodies are associated with the CREST variant of scleroderma
CREST variant of scleroderma
139
Anti-Scl-70 (anti-DNA topoisomerase I)
Scleroderma
