Immunodeficiencies Flashcards
(148 cards)
1
Q
Where does B cell maturation take place
A
Bone marrow
2
Q
Where does T cell maturation take place
A
Thymus
3
Q
What is the primary site of hematopoiesis starting in embryonic period
A
BOne marrow
4
Q
What type of T cells do you find in the cortex
A
immature t cells coming from bone marrow
5
Q
Where are hassall corpuscles located?
A
in medulla of thymus
6
Q
Where do APCs interact with T /B cells
A
lymph nodes
T cells in paracortex
B cells in germinal center
7
Q
Viruses and tumors bind to MHC class ________
A
Class 1 : CD8+
8
Q
Bacteria, allergens , exogenous pathoogens bind to MHC class ________
A
Class 2 : CD4+
9
Q
What kind of cells reside in peripheral organ /tissues?
A
Mature B/T cells
lymph nodes
spleen
mucosa associated lymphoid tissues
10
Q
MHC class 1 is present on ____________
MHC class 2 is present on _____________
A
all nucleated cells
APCS
11
Q
What is the importance of HLA polymorphisms?
A
- important when considering organ transplants
2. associated with certain autoimmune diseases
12
Q
Cell mediated immunity requires ________ cell proliferation
A
T cell prolifeation, differentiation, migration , killing
13
Q
If T helper cells are no longer intact what part of B cell differentiation does this efffect?
A
Isotype switching
affinity maturation
In general something wrong with T helpers WILL EFFECT HUMORAL IIMMUNITY (AB mediated)
14
Q
which Ig antibody protects the mother but does not cross the placenta and cannot protect the child?
A
IgM
15
Q
Lack of which Ig increases susceptibility to mucosal infections?
A
IgA
16
Q
Which Ig , if measured, provides information about presence of ongoing infection
A
IgG
17
Q
Virus infected cells have what property that contribute to destruction of cells?
A
decreased expression of MHC class 1
MHC class 1 inhibits NK cells
18
Q
What DIRECTLY contribute to a patients presentation of angioedema?
A
degranulation of mast cells. ( this causes what you are able to see)
19
Q
WHat constitutes a late reaction TYpe 1 hypersensitivity?
A
inflammatory cells: eusinophils, basophils
epithelial damage
bronchospasm
20
Q
What constitues an immediate type 1 hypersensitivity
A
- bronchoconstriction,
- edema (vascular leakage)
- muscle spasm (increase bowel peristalsis)
from mast cell degranulation
21
Q
A child comes in after eating a cherry 3 hours ago and mom says he has trouble swallowing. What histologic finding do you expect to find?
A
Eusinophilic
- this is eusinophilic esophagitis Type 1 (Late) Hypersenstivity
22
Q
What are the 3 mechanisms of type 2 hypersensitivity?
A
- inflammation
- opsonization /phagocytosis
- cellular dysfunction (inhibiting receptors/ acitivating)
23
Q
Which type hypersensitivity results in low cell count?
A
Type. 2
ex. autoimmune hemolytic anemia, autoimmune thrombocytopeia
24
Q
What is the mechanism of Autoimmune hemolytic anemia and autoimmune thrombocytopeia?
A
Opsonization/ phagocytosis (LOW CELLS)
TYPE 2 Hypersensitivty
25
What are the 3 type 2 hypersensitivity diseases caused by inflammatory mechanism?
1. vasculitis
2. good pasture
3. acute rheumatic fever
26
Describe type 2 hypersensitivity inflammatory mechanism ?
1. Fc receptor / complement bind
| 2. then, neutrophil enzymes , and ROS release causing tissue injury
27
Which of the following is a result of protein targeting in the basement membrane of kidney glomeruli and lung alveoli?
1. Good pasture
2. rheumatic fever
3. systemic lupus
4. asthma
5. acute sclerosis
Good Pasture. (Type 2 )
28
Rheumatic fever is a cumulative inflammation and scarring of the heart valves resulting from an abnormal immune response due to molecular mimicry between ________ and ____________
```
streptococcal protein and myocardial proteins
Type 2 (inflammatory)
```
29
Which hypersensitivity results in disrupted endocrine signaling and neural signaling?
Type 2 (mechanism of cellular dysfunction)
30
Which diseases are caused by cellular dysfunction type 2 hypersensitivity?
Myasthenia gravis ( inhibits ACH binding)
GRaves (stimulation of TSH)
insulin resistant diabetes ( inhibits insulin binding)
31
Ag-Ab complexes produce tissue damage mainly by causing inflammation where?
At site of DEPOSITION (type 3)
32
immune complex disorders tend to be ____________( Systemic / local) and favor what 4 locations of the body?
SYSTEMIC
joints (arthritis)
skin
kidneys (glomerulonephritis)
small blood vessles (vasculitis)
33
is systemic lupus an ACUTE or CHRONIC serum sickness? WHy
CHRONIC
it is caused by persistenc ab response to autoanitgents
acute would be a result of a single LARGE exposure to antigen
34
A smooth and linear type immunofluorescence would confirm which of the following?
```
A. SLE
B. asthma
C. type 1 diabetes
D. automimmune hemolytic anemia
E. food allergy
```
SMOOTH /LINEAR = TYPE 2 hypersensitivity
This is D.
35
Which of the following would show grainy, patchy immunofluorescence?
A. SLE
B. vasculitis
C. good pasture
D. Asthma
GRAINY= TYPE 3
This is A.
36
A post streptococcal cross reactive antibodies in theKIDNEY would cause what type of immunoflurorescence?
GRAINY. (TYPE 3)
Antibodies cause DEPOSITION in the kidney
37
post streptococcal cross reactive antibodies in the HEART would cause what type of immunoflurorescence?
SMOOTH / LINEAR (type 2)
the antibodies act DIRECTLY ON MYOCARDIUM
38
WHich _________(CD4 / CD8) causes DIRECT tissue injury?
CD8
39
Granulomatous inflammation is a hallmark of _________
Type 4 hypersensitivity
40
Which _________(CD4 / CD8) causes mediates formation of immune granulomas?
CD4 that release TNF / INF ----> recruit macrophages
41
Chronic arthritis and destruction of articular cartilages is caused by what mechanism ?
T cell mediated inflammation
42
What is the cause of local swelling and induration following the administration of mantouxtest?
sensitized t cells start inflammatory response (TYpe 4)
43
Type 1 diabetes and rheumatoid arthritis are both type ______
4
44
What is a rare local effect of vaccination?
Arthus reaction (type 3 )
45
Th1 cells releasing cytokines and activating marcrophages produces what kind of immunofluorescence?
Type 4 hypersensitivty
46
What 3 requirements to truly define as autoimmune ?
1. presence of immune rxn to specific SELF antigen or SELF tissue
2. rxn is NOT sECONDARY to tissue damage but rather the primary cause
3. abscence of another well defined disease
47
THe process by which T cells die of APOPTOSIS after selecting for self reactivity is called _______ tolerance?
CENTRAL
occurs in thymus
48
THe process by which B cells die of APOPTOSIS or undergo RECEPTOR EDITING after selecting for self reactivity is called _______ tolerance?
CENTRAL
| in bOne marrow
49
What are the 2 main mechanisms of peripheral tolerance?
1. anergy (failure to respond)
| 2. suppression by T regs
50
Tumors and viruses can use ______ and _____ receptors to avoid immune destruction?
CTLA
| PD1
51
Patients with Gene knockout of CTLA and PD1 develop__________
autoimmune diseaseG
52
Gene knockout of IL-2 would lead to __________
autoimmune disease
b/c it stimulates T-regs and without them you cant prevent immune rxns against self antigens
53
Gene knockout of FOX p3 would lead to ___________
autoimmune disease OR fetal rejection
b/c it is needed for maturation and maintence of TREGS
AND
plays a role in suppressing mothers adverse reaction to paternal antigens of the fetus
54
What are the functions of TREGS
cytokine immunosuppression ( IL-10 , TGF B)
CTLA 4 inhibition
55
What is AIRE critical for?
(thymus) deletion of immature Tcells that attack SELF
56
Immune dysregulation, polyendocrynopathy , enteropathy , Xlinked is caused by _____________
IPEX : deletion of FOxP3
57
What disease is associated with Class 1 HLA B27
1. high tsh levels
2. hereditary inflammatory joints in the spine
3. keratosis of the oral mucosa
4. malar rash
2. Ankylosing spondylylitis
58
INability of paneth cells in intestinal epitheilium to kill microbes is associated with polymophisms in ________
NOS 2 gene (CHRONS disease)
59
Rheumatoid arthritis and type 1 diabetes is associated with polymophisms in ________
PTNPN22 gene
results in excessive lymphocyte production
60
What two tests are diagnostic for SLE
anti DS DNA
Anti smith
61
Homogenous staining of ANA is consistent with what autotimmune disease
SLE
62
speckled staining of ANA is consistent with what autotimmune disease
Sjorgens
63
Nucleolar staining of ANA is consistent with what autotimmune disease
systemic sclerosis
64
What genetic predispostiion increases risk for SLE?
HLA -DQ
65
List 4 other symptoms other than malar or discoid rash for SLE?
arthritis
oral ulcers
renal disorder
photosensitivity
66
What lab test is important to do routinely for SLE patient?
CBC due to how it affects hematology and renal
67
What environmental factor is involved in pathogensis of SLE?
UV light
68
WHat kind of staining would be seen with diffuse lupus nephritis and why?
grainy due to immune complex formation
69
What sxs present with diffuse lupus nephritis?
URINALYSIS
proteinuria
hematuria
70
What type of cell can be found circulating in a patient with SLE?
L-E cell
a neutrophil or macrophage that ingests the nucleus of a damaged cell
71
What are 2 cardio complications of SLE?
Libman Sacks endocarditis
coronary artery disease (possible contribution from antiphopholipid ab syndrome?
72
positive ANA, discoid rash, (+) immunofluoresc. = ____
discoid lupus
73
(+) arthralgias, (+) ANA, discoid rash, (+) hematologic disease, (+) immunofl. = _____________
drug induced lupus
74
If you suspect drug induced lupus you would see a positive test for __________
anti- histone Ab
75
48-year-old female presents to your office with a 1-year history of dry eyes and difficulty swallowing. She complains of blinking frequently and of eye strain while using her computer at work. She also reports stiffness in her knees and lower back. Past medical history is unremarkable and she does not take medications. She denies cigarette or alcohol use. Family history is notable for Hashimoto's thyroiditis in her mother. Physical exam shows dry oral mucosa and enlargement of the parotid glands. Which of the following serologies is likely to be positive in this patient?
```
A. Anti-SS-A
B Anti-CCP
C. Anti-dsDNA
D. Anti-Smith
E. Anti-Jo-1
```
A.
anti Ro/SS A
anti La/SS
76
What are 2 complications of Sjorgens?
lymphoma *because it is pathogenesis is mediated by T / B cells
pulmonary fibrosis
77
What is eessential for dx of sjorgens
BIOPSY of lip ( to examine minor salivary glands)
78
A primary autoimmune phenomenon that results in damage. As a result of this damage, the "roof" is lifted off of the underlying basement membrane, exposing tissues with their own antigens that are now the subject of a secondary attack. What is this concept
Epitope Spreading. (ex. lichen planus)
79
A 35-year-old woman comes to your office with a variety of complaints. As part of her evaluation, she undergoes laboratory testing which reveals the presence of anti-centromere antibodies. All of the following symptoms and signs would be expected to be present EXCEPT:
1. Pallor, cyanosis, and erythema of the hands
2. Calcium deposits on digits
3. Blanching vascular abnormalities
4. Hypercoagulable state
5. Heartburn and regurgitation
4.
CREST SYNDROME
```
Calcinosis
Raynauds
Esophageal dysfucntion
Telangiectasis
Sclerdactyly
```
80
A 35-year-old woman comes to your office with a variety of complaints. As part of her evaluation, she undergoes laboratory testing which reveals the presence of anti-centromere antibodies. All of the following symptoms and signs would be expected to be present EXCEPT:
1. Pallor, cyanosis, and erythema of the hands
2. Calcium deposits on digits
3. Blanching vascular abnormalities
4. Hypercoagulable state
5. Heartburn and regurgitation
4.
CREST SYNDROME
Calcinosis
Raynauds
Esophageal dysfucntion
Telangiectasis
Sclerdactyly
81
Anti-centromere antibody= __________ (centromere staining)
| Anti DNA topoisomerase = _________ (speckled staining)
CREST syndrome;
Systemic sclerosis
82
_______ is affected first in Systemic sclerosis , _________ are affected LATER.
Skin. (sclerodactyly , raynauds)
Visceral ORgans: GI tract renal vascular disease, esophageal ulcers, pulmonary fibrosis
83
What has better prognosis : (+) anti centromere or (+) anti DNA topoisomerase?
(+) anti centromere. (CREST syndrome BETTER PROGNOSIS )
84
Mixed tissue disorder has high titer of ________
anti- ribonucleoprotein (RNP)
85
IgG4 -related disease is characterized as _________
fibro inflammatory
86
Hyperacute rejection is mediated by what type of cell>
B cells
87
Chronic Ab mediated recjection will result in ________ of vessels of organ tissue
Acute ab mediated rejection will have a (+) )_________stain
Fibrosis
C4d (complement)
88
A person with Sojrogens is more susceptible to what infection?
candida yeast of tongue
89
Presence of tubulitis or endothelitis indicates what type of rejection?
Acute cellular rejection (t cell mediated )
days, months, years
90
After treatment with immunosuppressive patient is at increased risk for what virus? viral induced tumors?
polyomavirus, cytomegalovirus
kaposi sarcoma
lymphoma
91
Indirect pathway of allorecognition is mediated by ________
RECIPIENTS antigen presenting cell
92
A 13-year-old boy presents to his pediatrician for a routine visit. He states that he has been in good health with the exception of repeated staphylococcal infections despite adequate treatment. On exam, the pediatrician observes the findings demonstrated in albinism, as well as nystagmus. Which of the following is the most likely mode of inheritance of this patient's condition?
Describe what a peripheral smear will show?
Chediak higashi syndrome
- failure of phagolysosomal fusion
giant granules
93
What is inheritance of chediak higashi?
Autosomal recessive
94
What are 2 disease due to leukocyte disorders?
Chediak Higashi+
Chronic granulomatous disease
95
What is the cause of chronic granulomatous disease?
failure of phagocyte to produce superoxide
accumulate macrophages because infection persists
96
A 5-year-old female suffers from recurrent infections by Aspergillus species, Pseudomonas species, and Staphylococcus aureus. The patient's neutrophils are examined in the laboratory . Which of the following is most likely dysfunctional in this patient?
A.Lymphocytes
B.Immunoglobulin class switching
C.Superoxide dismutase
D. Respiratory burst
D. respiratory burst
chronic granulomatous diseas
97
Pt with C5-C9 deficiency is more susceptible to ?
Neisseria Meningitis
lack of protection against microbes
98
A 47-year-old male presents to the emergency department with facial swelling and trouble breathing. These symptoms began this morning and progressively worsened over the past several hours. Physical examination reveals nonpitting swelling of the face, hands, and arms as well as edema of the tongue and mucus membranes of the mouth and pharynx. The patient reports several episodes of mild facial swelling that occurred during childhood between the ages of 5-18, but he does not recall seeing a physician or receiving treatment for this. This patient most likely has which of the following underlying abnormalities?
```
A. MHC class I deficiency
B.Defective lysosomal storage proteins
C. Lack of NADPH oxidase
D. Defect in cytoskeletal glycoprotein
E. Deficiency of C1 esterase inhibitor
```
E. C1 inhibitor deficiency
```
hereditary angioedema
( autosomal dominant)
```
Very similar to anaphylaxis
99
Corkscrew intestine can be a sxs of ________
hereditary angioedema
100
A 3-year-old Cuban-American male has a history of recurrent Pseudomonas and Candida infections. Laboratory analysis reveals no electrolyte abnormalities. Examination of his serum shows decreased levels of IgG and CT scan reveals the absence of a thymus. The child likely has
```
A. X-linked agammaglobinemia
B.DiGeorge syndrome
C. Severe combined immunodeficiency syndrome
D. Isolated IgA deficiency
E. Common variable immunodeficiency
```
SCID
(Recurrent infections with fungal and bacterial pathogens are likely the result of defective T and B cell immunity. Severe combined immunodeficiency syndrome (SCID) is the only disorder of BOTH B and T cell lineages
101
SCID due to adenosine deaminase deficiency is what type of inheritance?
autosomal recessive
102
X linked SCID is due to_______
mutation s in IL receptor
inhibits maturation and production of T Cells
103
Failure of pharyngeal pouches 3/ 4 affects develpment of what organs?
Di George
thymus
parathyroid
heart / great vessls
104
You are called to examine a one-hour-old baby who was born with a facial defect . The patient's ears appear to be low-set. On auscultation, there is a holosystolic murmur along the lower left sternal border. Basic labs return notable for hypocalcemia. What is the most likely underlying mechanism responsible for the abnormalities seen in this newborn?
A.X linked agammaglobulinemia
B.Chediak higashi
C.Trinucleotide repeat expansion
D. Partial deletion on chromosome 22
D.
105
You are seeing a 4-year-old boy in clinic who is presenting with concern for a primary immune deficiency. He has an unremarkable birth history, but since the age of 6 months he has had recurrent otitis media, bacterial pneumonia, as well as two episodes of sinusitis, and four episodes of conjunctivitis. He has a maternal uncle who died from sepsis secondary to H. influenza pneumonia. If you drew blood work for diagnostic testing, which of the following would you expect to find?
```
A.Abnormally low number of B cells
B.Abnormally low number of T cells
C. Abnormally high number of B cells
D.Abnormally high number of T cells
E. Elevated immunoglobulin levels
```
Xlinked agamma
risk for infxn increases after maternal ab wane (6 months)
106
Pts with Xlinked agammaglobulinemia have increased risk of infection with __________
encapsulated bacterial infection
s. pnuemonia
hemophilus influenzae
s. pyogenes
giardia (protozoa)
107
A 3-month-old is referred to a pediatric immunologist by his pediatrician for further workup of recurrent sinopulmonary infections which have not abated despite adequate treatment. During the workup flow cytometry demonstrates a decrease in normal CD40L cells. Based on these findings, the immunologist decides to pursue a further workup and obtains immunoglobulin levels. Which of the following immunoglobulin profiles is most likely to be observed in this patient?
```
A.Increased IgE; Decreased IgG, IgM
B.Decreased IgE, IgM, IgA, IgG
C. Increased IgE, IgA; Decreased IgM
D. Increased IgE
E. Increased IgM; Decreased IgG, IgA, IgE
```
E. Increased IgM and decreased IgG, IgA, and IgE is characteristic of hyper-IgM syndrome, which causes severe pyogenic infections in the first months of life.
Hyper IgM syndrome
108
What condition affects B cell class switching?
Hyper IgM syndrome
109
30-year-old Caucasian male is brought to the emergency room for recurrent diarrhea. He has had multiple upper respiratory infections since birth and does not take any medications at home. It is determined that Giardia lamblia is responsible for the recurrent diarrhea. The physician performs a serum analysis and finds normal levels of mature B lymphocytes. What other finding on serum analysis predisposes the patient to recurrent diarrheal infections?
Low IgG
CVID
The patient has common variable immunodeficiency disorder (CVID), which leads hypoagammaglobulinemia. Specifically, the patient has a deficiency in IgG therefore he has an increased susceptibility to Giardia infection.
110
Deficiency of _______ causes weakened mucosal defenses and increased GI/ urinary bladder infection?
Ig A deficiency
111
Chronic diarrhea of CVID is due to ________
giardia lamblia
112
6-year-old boy is brought to the emergency department following a car accident in which he suffered multiple injuries. He is accompanied by his mother. She reports that his medical history is notable only for recurrent sinusitis and otitis as a child. He lost a significant amount of blood from the accident, and he is transfused two units of O-negative blood on arrival at the emergency department. Shortly thereafter, he complains of itching and increasing shortness of breath. He develops stridor. Which of the following could have prevented this reaction?
```
A. Pre-transfusion acetaminophen
B. Pre-transfusion diphenhydramine
C. Administering type-specific blood]
D.Administering washed blood products
E. Administering IVIG with transfusion
```
Ig A deficiency
red cell washing can prevent reactions
113
A 2-month-old boy is brought to his pediatrician for a routine visit. His mother is concerned because he developed eczema one month ago that has not resolved Furthermore, she states that he has seemed to constantly be sick ever since his birth. The pediatrician notes thrombocytopenia. Which of the following laboratory findings is most likely to be observed in this patient?
```
Increased IgM; Decreased IgG, IgA, IgE
Increased IgE only
Increased IgE, IgA; Decreased IgM
Increased IgE; Decreased IgG, IgM, IgA
Decreased IgE, IgM, IgA, IgG
```
Wiskott aldrich syndrome
114
WHat is the triad of WASP gene mutation
1. thrombocytopenia
2. eczema
3. recurrent infections. (t cell loss and hypogammaglobinemia)
115
A mother brings her 10-year-old girl to the pediatrician for a routine visit. During the visit, the girl comments that recently she has been having difficulty with her balance and has been falling more than usual. She also complains of a rash on her face that has not resolved despite trying multiple over-the-counter treatments . Which of the following is the most likely cause of this patient's symptoms?
```
Defect in cellular transport
Defect in cell surface receptor
Defect in actin cytoskeleton function
Defect in microtubule function
Defect in DNA repair
```
Defect in DNA repari
Ataxia TElangiectasia
116
Ataxia telangiectasia is what type of inheritance?
Auttosomal recessive
(ATM gene mutation- sensor of DNA damage
117
Ataxia telangiectasia involves deficiency of what antibodies?
IgA and IgG
118
Waht are the functions of HIV retroviral genes? (4)
LTR- initiates transcription
gag- encodes proteins inside virus
env - encodes surface glycoproteins
pol: viral enzymes
119
Which protein is important for drilling into host target cell for HIV
gp41
120
What is the function of HIV integrase?
inserts proviral DNA into host genome
121
What initiates viral transcription of HIV DNA?
releases of NFkB by antigenic stimulation
122
How can HIV access the CNS and cause neuronal damage?
Microglia
123
What helps HIV be transported to lymph nodes? what happens in the lymph nodes?
mucosal dendritic cells.
viral replication
124
WHat occurs to B cell response to new antigens in HIV?
it is IMPAIRED due to reduced T cells
125
____________ (sore throat , muscle aches )occurs at about 3-6 post intial HIV infection.
acute HIV syndrome
- wide dissemination of viurs
seedding lymph organs
126
Does HIV infect neurons fo the brain?
NO
pathogenisis is via microglia that secrete cytokines
127
Does HIV infect neurons fo the brain?
NO (LO #42)
pathogenisis is via microglia that secrete cytokines
128
Describe the clinical latency period of HIV?
This is the 2nd out of 3 stages
it is a period of silent massacre
CD4+ major decline
129
What type of infections is an HIV patient susceptible too in the chronic latent period?
Opportunistic
1.pneumocysitis pneumonia
2. tuberculosis
3. toxoplasma
4. candida
5. cryptosporidiujm
130
Patients with what disease have increased risk of Kaposi sarcom and lymphoma?
HIV
131
At about 10 days post infection what is the first detectable substance of HIV?
viral RNA NAT
132
What substance is detected years after initial infection?
HIV antibody
133
What substance is detected weeks after intial infection
antigen p24
134
What accounts for majority of deaths in a patient diagnosed with AIDS?
Opportunisitc infection
ex. Myobacterium avium
cryptosporidium (protozoa)
cytomegalovirus
more on pg 253 robbins
135
Give an example of AIDS defining illness?
PNeumocystis jiroveci
| fungal infection of lungs
136
What causes the virus associated B cell lymphoma in HIV?
Uchecked EBV reactivation in latent infected B cells due to CD4+ depletion
137
What 4 lymphomas are implicated with AIDS patients?
1. Hodgkin
2. CNS
3. Primary effusino
4. cervical / anal cancer
138
A 27-year-old man presents to the urgent care clinic with a 2-week history of fever, macular rash, and generalized lymphadenopathy. He denies a sore throat, genital ulcers, or urethral discharge. Sexual history is remarkable for having unprotected sex with both male and female partners while inconsistently using condoms. His last sexual encounter was a month prior to the onset of illness.
What is the classification of his infectious agent?
Retroviridae (LEntivirus)
139
What accumulates in AL amyloidosis?
immunglobin light chains into the blood
due to mutation
140
Accumulation of SAA protein in AA amyloidosis is due to ________
chronic inflammation
causing liver to secrete AA
ex. SLE, osteomylitis, tuberculosis)
141
What is the effect of systemic amyloidosis in the Kidney? Heart ?
Kidney: proteinuria and edema
Heart :
dysrhythmias CHF
142
Amyloidosis can cause ___________ of liver, spleen and tongue
Enlargement
143
For which of the following patients would you recommend prophylaxis against mycobacterium avium-intracellulare?
A. 22-year old HIV positive female with CD4 count of 750 cells/ microliter and a viral load of 500,000 copies/mL
B. 30-year old HIV positive male with CD4 count of 20 cells/ microliter and a viral load of < 50 copies/mL
C. 45-year old HIV positive female with CD4 count of 250 cells/ microliter and a viral load of 100,000 copies/mL
D. 50-year old HIV positive female with CD4 count of 150 cells/ microliter and a viral load of < 50 copies/mL
5
36-year old HIV positive male with CD4 count of 75 cells/microliter and an undetectable viral load.
B.
CD4+ count is the most reliable for TREATMENT
Viral load is not used as an indication for treatment
it can be used to predict progression of HIV
144
A 20-year-old female arrives at the urgent care clinic at her university’s health plan asking for an HIV test. She is an undergraduate at the university and just started having sexual intercourse with her new boyfriend. They use protection only occasionally so she wants to get tested to make sure everything is okay. She has never been tested for STDs before. She reports no symptoms and has not seen a physician regularly for any medical conditions in the past. Her family history is uncertain because she was adopted. Her HIV immunoassay and HIV-1/HIV-2 differentiation immunoassay both come back positive. She asks on the phone, “Doctor, tell it to me straight. Do I have AIDS?” Which of the following is the most accurate response?
A. We have to get a confirmatory PCR test to see if you have AIDS.
B. You do not have AIDS because you just started having sex recently.
C.You have AIDS but this disease is now a manageable condition.
D We need your partner's information to be sure of your diagnosis.
E. We need additional bloodwork to see if you have AIDS
E.
In a patient who is infected with HIV, a diagnosis of AIDS is defined as a CD4+ count less than 200 or affliction with an AIDS-defining illness. Thus additional bloodwork to see if the patients has AIDS would be the most appropriate response.
145
Which of the following would be seen in a patient with deficiency in T and B cells ?
```
A. Defect in nucleotide excision repair
B. Defect in microtubule function
C. Defect in cell surface receptor
D. Defect in actin cytoskeleton function
E. Defect in cellular transport
```
C.
Xlinked SCID is due to lack of IL receptor
146
Infants with SCID present with?
diaper rash , oral candidiasis , FAilure to thrive
147
An 11-year-old boy is brought to the emergency department by his parents with a 2-day history of fever, malaise, and productive cough. On presentation, he is found to be very weak and is having difficulty breathing. His past medical history is significant for multiple prior infections requiring hospitalization including otitis media, upper respiratory infections, pneumonia, and sinusitis. His family history is also significant for a maternal uncle who died of an infection as a child. Lab findings include decreased levels of IgG, IgM, IgA, and plasma cells with normal levels of CD4 positive cells. The protein that is most likely defective in this patient has which of the following functions?
```
A. Actin polymerization
B. Autoimmune regulation
C. Lysosomal trafficking
D. Nucleotide salvage
E. Protein phosphorylation
```
E. kinase phosphoryates
148
A 2-year-old boy is brought to his pediatrician for evaluation of high fever and malaise. His mother relates that he suffers from frequent infections and has had several episodes of bloody diarrhea in the last year. Physical exam reveals diffuse petechial lesions as well as dry red skin in the elbow and other extremity flexor compartments. His mom remembers that one of her nephews has a similar problem with bleeding and very itchy rashes but cannot recall the details. Which is the patterns of immunoglobulin findings is most likely ?
This case is most consistent with a diagnosis of Wiskott-Aldrich syndrome, a disease characterized by the classic triad thrombocytopenia, eczema, and recurrent infections. The disease is caused by a mutation in an actin binding protein and serological findings include
increased IgA and IgE with
low IgM
low IgG.
