Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
320 Cards in this Set
- Front
- Back
|
How do you confirm if a baby has HIV?
|
PCR (not ELISA)
|
|
|
What is the first antibody to show in the serum of HIV positive patients?
|
GAG 24
|
|
|
What is the number 1 in utero infection in the united states?
|
cytomegalovirus
|
|
|
CMV retinitis
|
aids
|
|
|
CMV pneumoniae
|
blood donors
|
|
|
Describe the HIV genome?
|
2 strands of RNA (not double stranded)
|
|
|
What is the first HIV molecule that binds (via CD4 andCCR5) to the host cell membrane?
|
gp 120
|
|
|
What is the transmembrane protein on HIV that is involved in the entry of the virus into the host cell?
|
gp 41
|
|
|
What HIV protein helps maintain viral structure, transport viral genome to host cell nucleus, and assemble new virions?
|
p17 (matrix protein)
|
|
|
What makes up the core of the HIV virus?
|
p24 (capsid antigen), Nucleocapsid, Reverse transcriptase, Protease, Integrase, two single stranded RNA
|
|
|
What HIV gene codes for core proteins and matrix proteins?
|
gag (Group-specific antigen)
|
|
|
What HIV gene codes for reverse transcriptase, protease, and integrase enzyemes?
|
pol (Polymerase)
|
|
|
What HIV gene codes for transmembrane glycoproteins, gp120, and g41?
|
env (Envelope)
|
|
|
What HIV gene codes for a positive regulator of gene transcription?
|
tat (Transactivator)
|
|
|
The products of what HIV gene allows export of unspliced and partially spliced transcripts from the nucleus?
|
rev (Regulator of viral expression)
|
|
|
The products of what HIV gene augment viral replication in vivo and in vitro and downregulate CD4 and class II MHC?
|
nef (Negative regulation factor)
|
|
|
What cells express CD4?
|
TH cells, some macrophages and dendritic cells
|
|
|
Destruction of CD4 cells will affect activation of what cells?
|
CD8 cells, macrophages, B cells
|
|
|
Interaction with CCR5 is associated with macrophage tropic or lymphocyte tropic?
|
macrophage
|
|
|
What variant of HIV is responsible for transmission from one person to another?, Which variant of HIV infects mainly activated CD4 cells?
|
Macrophage tropic, Lymphocyte tropic
|
|
|
What are the first cells to be infected at the site of HIV entry?
|
Macrophages and Dendritic cells
|
|
|
What is the function of integrase?
|
Integrates DNA produced by reverse transcriptase into host chromosome
|
|
|
Why is there a high number of mutants of HIV which prohibits HIV vaccination?
|
High error rate in RNA reverse transcriptase
|
|
|
The transcription of tat and rev proteins is directed by binding of what transcription factor to the provirus promotor region?
|
NFkB
|
|
|
What HIV protein binds to the transcriptional activation region (TAR) where it prevents transcription from shutting off?
|
Tat
|
|
|
What gene encodes the anti-HIV target proteins?
|
Pol
|
|
|
What are the manifestations of acute retroviral syndrome?
|
Sore throat, Fever, Muscle and headaches, Enlarged lymph nodes, Rash
|
|
|
Infectious virions get to what level in late stage of HIV infection?
|
100-100,000
|
|
|
What is the definition of AIDS?
|
HIV positive with less than 200 CD4 cells/mm3, or, HIV postive with less than 14% of normal T cells
|
|
|
How is acute retroviral syndrome diagnosed?
|
Symptoms of ARS, Negative HIV ELISA in past 6 months and current positive, or, Negative current HIV ELISA and current high HIV RNA
|
|
|
Positive HIV ELISA is confirmed by what kind of test?
|
Western blot
|
|
|
Group antigen proteins include which ones?
|
p17 , p24
|
|
|
A positive Western Blot for HIV has what requirements?
|
Antibodies to both and envelope protein and a GAG protein or both envelope proteins, (e.g. p17 and gp41, or gp41 and gp120)
|
|
|
What is the most common cause of immunodeficiency aside from AIDs?
|
immunosuppressive therapy
|
|
|
Long term non progressors with HIV are due to what mutation?
|
Mutation in CCR5
|
|
|
What important pathogen evades the immune system with its capsule?
|
Strep pneumoniae
|
|
|
What pathogen evades the immune system by blocking the lysosomal fusion with the phagosome?
|
Mycobacterium Tuberculosis
|
|
|
What pathogen escapes the phagosome into the cytoplasm?
|
Listeria Monoctyogenes
|
|
|
What pathogens escape the phagosome into their own cytoplasmic vesicles?
|
Toxoplasma Gondii
|
|
|
In what ways do herpes viruses evade the immune system?
|
Persist in cells without dividing, Infect cells with little class I MHC expression, Express membrane Fc binding protein, Express membrane compliment receptor, Inhibits MHC I expression, Blocks TAP function
|
|
|
For what pathogens is antigenic variation a major mechanism of evading the immune system?
|
Strep pneumoniae, Influenza, HIV
|
|
|
What pathogens evade the immune system by expressing Fc binding proteins?
|
Staph Aureus, Cytomegalovirus, Herpes simplex
|
|
|
How do Neisseria Meningitidis and Gonorrhoeae and Haemophilus influenza evade the immune system?
|
Express IgA protease
|
|
|
What pathogens inhibit host cell class I MHC expression?
|
Herpes Simplex, Cytomegalovirus
|
|
|
What vaccinations should not be given to HIV patients?
|
Live vaccines
|
|
|
Immunizations may be deferred until after what event for HIV patients?
|
HAART
|
|
|
What vaccines should be given to HIV patients?
|
Pneumococcal, Influenza, Hep B, Hep A (inactivated), Tetanus-Diptheria (every 10 years)
|
|
|
Oral Polio, Oral typhoid, BCG, Varicella-Zoster and Yellow fever are advised or not advised for HIV patients?
|
Not advised
|
|
|
What are the criteria for and drugs used for prophylaxis of Pneumocystis Jiroveci?
|
CD4 T cell count < 200, TMP-SMX
|
|
|
What are the criteria for and drugs used for prophylaxis of Mycobacterium Avium Complex?
|
CD4 T cell count < 50, Azithromycin or Clarithromycin
|
|
|
What are the criteria for and drugs used for prophylaxis of Toxoplasmosis?
|
CD4 T cell count < 100 and positive Toxo IgG, TMP-SMX
|
|
|
What are the criteria for and drugs used for prophylaxis of Tuberculosis?
|
Induration > 5mm on TST, INH and Pyridoxine
|
|
|
What patients should be give HAART?
|
CD4 count < 200, or any symptomatic patient
|
|
|
HAART is considered in what rage of CD4 levels but only on an individual basis?
|
200 - 350
|
|
|
ATRIPLA is a combination of what drugs?
|
Efavirenz (Sustiva), Emtricitabine (Emtriva), Tenofovir disoproxil fumerate (Viread)
|
|
|
What are the major nucleoside reverse transcriptase inhibitors?
|
Zidovudin (AZT), Statuvudin (D4T), Lamivudin (3TC), Didanosine (ddI), Zalcitabine (ddC)
|
|
|
What are the major non-nucleoside reverse transcriptase inhibitors?
|
Nevirapine , Delvirdine, Efavirenz
|
|
|
What are the major protease inhibitor anti-HIV drugs?
|
Saquinavir, Ritonavir, Indinavir, Nelfinavir
|
|
|
What is the mechanism of action of NRTI anti-HIV drugs?
|
compete with purines and pyrimidines
|
|
|
Efurvitide prevents a confirmational change in gp 41. How does that prevent further HIV infection?
|
inhibits fusion
|
|
|
What is Raltegravir's mechanism of action?
|
blocks integrase
|
|
|
What are 4 of the most important malignancies associated with AIDs?
|
Kaposi sarcoma, Non-Hodgkin's lymphoma, Lymphoma of the brain, Cervical and anal carcinoma
|
|
|
Kaposi sarcoma is associated with what virus?
|
HHV-8
|
|
|
What virus probably plays a roll in lymphoma in AIDs?
|
EBV
|
|
|
What strains of HPV are carcinogenic?, What other strains are included in the vaccine and cause most of the genital warts?
|
Type 16 and 18, Type 6 and 11
|
|
|
What are the morphological forms of toxoplasmosis?
|
Oocyst, Trophozoite (Tachyzoite), and tissue cyst
|
|
|
An AIDS patient presenting with meningoenchephalitis or encephalopaty with ring enhancing lesions on MRI would lead to what diagnosis?
|
toxoplasmosis
|
|
|
Heterophile negative mononucleosis may be caused by what sporozoan?
|
Toxoplasma Gondii
|
|
|
Children born with congenital toxoplasmosis may have what manifestations of the disease?
|
CNS (Microcephaly, hydrocephaly, cerebral calcifications, convulsion and psychomotor retardation), Visceral (hepatitis, pneumonia)
|
|
|
The milder form of congenital toxoplasmosis (infected during 3rd trimester) may have what manifestations?
|
They may appear healthy at birth but develop epilepsy, retardation, or strabismus months or years later.
|
|
|
What delayed manifestation of congenital toxoplasmosis may occur from reactivation of latent infection during the 2nd and 3rd decade of life?
|
Chorioretinitis (repeated bouts of eye pain with loss of visual acuity)
|
|
|
Toxoplasmosis may have what symptoms that mimick infectious mononucleosis?
|
Adenopathy, Fever, Sore throat, Rash, Hepatosplenomegaly, Atypical lymphocytes
|
|
|
What is the major treatment for toxoplasmosis?, What is the alternate treatment for pregnant women?
|
Pyrimethamine and sulfonamides, Spriramycin for pregnant women
|
|
|
The oocysts of what pathogen commonly associated with AIDS are acid fast?
|
Cryptosporidium
|
|
|
Cryptosporidium resides mainly in what part of the GI tract?
|
jejunem
|
|
|
What populations are most likely to get cryptosporidium?
|
AIDS patients and children
|
|
|
What are the symptoms of cryptosporidium?
|
Diarrhea, Nausea, Low grade fever, Abdominal pain
|
|
|
What pathogen is most likely to cause cavitary lesions in the lung in AIDS patients?
|
Mycobacterium avium-intracellulare
|
|
|
What mycobacterium is most commonly associated with urban areas and forms yellow-pigmented colonies in presence of light?
|
Mycobacterium Kansassi
|
|
|
Interstial linear opacities with a hazy ground glass appearance in an AIDS patient is most likely associated with what pathogen?
|
Pneumocystis Carinii
|
|
|
What is the second largest cause of death in HIV patients?
|
Pneumocystis Carinii
|
|
|
How does Pneumocystis Carinii difer from other fungi?
|
cell wall lacks ergosterol
|
|
|
True or False sputum samples can be taken to isolate pneumocystis carinii?
|
False, Alveolar pathogen
|
|
|
What is the major virulent factor of cryptococcus neoformans?
|
Glucuronoxylomannan (GXM) capsule
|
|
|
Cryptococcus neoformans is associated with what presentation in AIDS patients?
|
Meningitis, meningoencephalitis, (even though it is a respiratory pathogen)
|
|
|
How is cryptococcus neoformans is isolated from AIDS patients?
|
lumbar puncture
|
|
|
What stain is used for cryptococcus neoformans?
|
India ink
|
|
|
What is the most common culture for fungus?
|
Sabaraud Dextrose Agar, Potato Dextrose Agar
|
|
|
Melanin produced by cryptoccus neoformans serves what purpose for the pathogen?
|
protects against oxidative injury from phagocytes
|
|
|
What are the typical CSF findings for cryptococcus neoformans?
|
Increased CSF pressure, Pleocytosis, Reduced glucose
|
|
|
If India Ink staining is negative but cryptococcus neoformans is still suspected, what test is run next?
|
Latex agglutination test for capsular antigen
|
|
|
What is the treatment for cryptococcal meningitis?
|
Amphotericin B with flucytosine or fluconosol
|
|
|
An enlarged cell with intranuclear inclusion bodies surrounded by a white halo is indicative of what pathogen?
|
cytomegalovirus
|
|
|
What is the most common in utero infection in the United States?
|
cytomegalovirus
|
|
|
CMV blocks the transfer of what protein to evade the immune response?
|
MHC molecules
|
|
|
What are the symptoms of congenital cytomegalovirus?
|
Jaundice, Hepatomegaly, Anemia, Chorioretinitis, Low birth weight, Microcephaly and other birth defects
|
|
|
What is the number one cause of heterophile negative mononucleosis?
|
cytomegalovirus
|
|
|
CMV pneumonia is most commonly associated with what populations?
|
transplant patients
|
|
|
What are the major treatments for cytomegalovirus?
|
Gancyclovir, Foscarnet
|
|
|
What drug is used for treatment of retinitis associated with cytomegalovirus infection?
|
Cidofovir*
|
|
|
The following infectious complications of HIV are associated with what levels of CD4 cells?, Pneumocystis pneumonia, Disseminated histoplasmosis and coccidioidomycosis, Miliary and extrapulmonary tuberculosis, Progressive multifocal leukoencephalopathy
|
<200 cells/mm3
|
|
|
The following infectious complications of HIV are associated with what levels of CD4 cells?, Disseminated herpes simplex, Toxoplasmosis, Cryptococcosis, Cryptosporidiosis, chronic, Microsporidiosis, Candidal esophagitis
|
<100 cells/mm4
|
|
|
The following infectious complications of HIV are associated with what levels of CD4 cells?, Disseminated cytomegalovirus, Disseminated MAC
|
<50 cells/mm5
|
|
|
Elevated indirect bilirubin may be associated with what HIV treatment?
|
HAART
|
|
|
Macrocytosis may be associated with what HIV treatment?
|
indinavir and atazanivir
|
|
|
Anemia may be associated with what HIV treatment?
|
AZT
|
|
|
Thrombocytopenia may be associated with what HIV treatment?
|
AZT
|
|
|
Neutropenia may be associated with what HIV treatment?
|
generally caused by HIV not treatment
|
|
|
What are the major normal flora of the female genital tract?
|
Lactobacillus spp., Coagulase-negative staphylococci, Diphtheroids , Bacteroides spp., Coliforms, Streptococci, Group B streptococcus, Staphylococcus aureus
|
|
|
What major STD pathogens are associated with urethritis, cervicitis, and proctitis?
|
Neisseria gonorrhea, Chlamydia trachomatis
|
|
|
Gram negative diplococci suggests what STD?
|
Neisseria Gonorrhea
|
|
|
Where will neisseria gonorrhea be found with microscopy?
|
On and within leukocytes (neutrophils)
|
|
|
How does N. Gonorrhea attach to host cells?
|
by pili
|
|
|
R plasmids may have what implication on treatment of Gonorrhoeae?
|
resistance to antibiotics
|
|
|
What key feature of gonorrhoeae allows escape of the immune system and the ability to attach to many types cells?
|
antigenic variation (expression of different types of pili)
|
|
|
What proteins expressed by N. Gonorrhoeae increases adherence between gonococci and eukaryotic cells and may promote invasion of epithelial cells?
|
Opa proteins
|
|
|
How do Opa proteins prevent activation and proliferation of lymphocytes?
|
By attaching to receptors on CD4 T lymphocytes
|
|
|
What are the major complications of gonorrhea in men?
|
Urethritis (thick pus-containing discharge), Scar tissue (can obstruct the urethra), Sterility , Prostatic abscesses
|
|
|
What are the major complications of gonorrhea in women?
|
Painful urination, vaginal discharge, Spread in the cervix, and fallopian tubes, Pelvic inflammatory disease , Scar tissue forms causing sterility or ectopic pregnancy
|
|
|
What is the major treatment used for gonorrhea?
|
ceftriaxone
|
|
|
What bacterial STDs can cause pelvic inflammatory disease?
|
Neisseria gonorrhea, Chlamydia trachomatis
|
|
|
3 types of C. Trachomatous cause what STD characterized by swollen lymph nodes and gross swelling of the genitalia?
|
lymphogranuloma venereum
|
|
|
What bacterial STD is a spherical obligate, intracellular bacterium?
|
Chlamydia trachomatis
|
|
|
What stage of Chlamydia trachomatis is infectious?
|
Elementary body
|
|
|
What form of chlamydia trachomatis is dividing?
|
Reticulate body
|
|
|
How is chlamydia trachomatis diagnosed?
|
Immunofluorescence, Gram stain ineffective
|
|
|
What STD is characterized by a painless, red ulcer with a hard rim called a hard chancre?
|
syphilis
|
|
|
What stage of syphilis is associated with immune complexes and characterized by runny nose, watery eyes, aches, sore throat, rash on palms and soles?
|
secondary syphilis
|
|
|
What organism causes syphilis?
|
Treponema Pallidum
|
|
|
What stage of syphilis results from hypersensitivity to Treponema Pallidum and is characterized by mental illness, blindness and stroke?
|
Tertiary phase
|
|
|
How is syphilis diagnosed?
|
Dark field microscopy, For screening purposes:, Rapid Plasma Reagin (RPR), VDRL (Venereal Disease Research Laboratory), For confirmatory testing:, FTA-ABS, MHA-TP
|
|
|
What STD is characterized by soft painful ulcers?
|
Chancroid
|
|
|
What is the pathogen that causes Chancroid?
|
Haemophilus ducreyi
|
|
|
What STD, if untreated, will form buboes that will spontaneously rupture and form non healing ulcers?
|
Chancroid
|
|
|
Females, with chancroid will have what clinical presentation?
|
Usually asymptomatic, May have: Dysuria, vaginal discharge, painful defecation, rectal bleeding
|
|
|
How is chancroid diagnosed?
|
1 or more painful, genital ulcers, No evidence of Treponema Pallidum, Test results for HSV are negative
|
|
|
What STD, commonly found in the tropics and subtropics is an obligate intracellular and is characterized by Donovan bodies?
|
Calymmatobacterium granulomatis, (Donovanosis)
|
|
|
What is the key diagnostic feature of Calymmatobacterium granulomatis?
|
Donovan bodies
|
|
|
What lesion is characteristic of Calymmatobacterium granulomatis?
|
Raised nodules which erode into beefy-red ulcers
|
|
|
What STD causing bacterium is best visualized by dark field microscopy?
|
Treponema Pallidum
|
|
|
What STD is characterized by vesicles which burst and become painful ulcers?
|
Herpes simplex
|
|
|
What type of genome does herpes simplex virus have?
|
Ds-DNA
|
|
|
What are the major immune escape proteins of herpes simplex virus?
|
gC, gE, gI
|
|
|
C3 from the complement system is bound by what herpes simplex virus protein, thus removing it from the cascade?
|
gC
|
|
|
The Fc portion of the antibody is bound to what complex of herpes simplex proteins?
|
gE/gI complex
|
|
|
Which herpes simplex virus is associated with STDs?
|
HSV-2
|
|
|
What are the major manifestations of genital herpes simplex during the incubation phase?
|
genital itching, burning, severe pain in women
|
|
|
Latent herpes simplex infection occurs in what cells?
|
neurons
|
|
|
What viral enzyme is essential in activating acyclovir and penciclovir?
|
Thymidine kinase
|
|
|
What is the most common of the sexually transmitted diseases worldwide?
|
HPV
|
|
|
Genital warts and cervical cancer are associated with what virus?
|
Human Papilloma Virus
|
|
|
True or false HPVs that cause hand warts also cause genital warts?
|
FALSE
|
|
|
Infants can have what pulmonary complication from HPV?
|
obstruction of the airway by warts
|
|
|
Onset of the symptoms of AIDS correlates with what levels of CD4 Cells?
|
450
|
|
|
Strawberry cervix is associated with what STD?
|
Trichomoniasis
|
|
|
What are the symptoms of Trichomoniasis?
|
Itching of the vulva, itching of vagina, Yellowish -green frothy vaginal discharge, Burning discomfort upon urination
|
|
|
What organelles do Trichomonas vaginalis use in place of mitochondria?
|
Hydrogenosomes
|
|
|
Vaginitis is associated with what microorganisms?
|
Trichomonas vaginalis, Candida albicans (Thrush), Gardnerella vaginalis (Bacterial vaginosis)
|
|
|
Bacterial vaginosis is associated with overgrowth of bacteria associated with what risk factors?
|
Use of broad-spectrum antibiotics, Douching, Overused, retained tampons, Intrauterine contraceptive devices, Diaphragms, contraceptive sponges, Multiple sex partners, History of STDs
|
|
|
What drugs are used to treat bacterial vaginosis?
|
Clindamycin, metronidazole
|
|
|
Broad-spectrum antibiotics can affect what normal flora of the vagina that helps to prevent overgrowth of other organism by creating acid?, What are some other organisms that may infect the vagina in its absence?
|
Lactobacillus , Gardnerella vaginalis, Gardnerella Mobiluncus, Mycoplasma hominis
|
|
|
What form of vaginitis is characterized by decrease in vaginal lactobacilli, decrease in normal acidity of the vagina?
|
Bacterial vaginosis
|
|
|
Sloughed off epithelial cells with a strong fishy odor, covered with bacteria are called what?
|
clue cells
|
|
|
WBC counts below 4000 cells/microliter are indicative of what possible conditions?
|
Viral infection, Overwhelming bacterial infection, Hypersplenism, Bone marrow disorder, Immune deficiency
|
|
|
Alcohol withdrawal may lead to a raised or decreased WBC level?
|
raised
|
|
|
Elevated lymphocyte levels are indicative of what type of disease process?
|
viral infection
|
|
|
As a general rule there are more neutrophils in what stage of life?
|
After 1 year old
|
|
|
What does a left shift mean?, A left shift may be an indication of what type of infection?
|
increase of bands/stabs ratio, bacterial infection
|
|
|
What type of WBC populations are indicative of fungal infections?
|
None
|
|
|
What are the normal values for ESR?
|
Men 0-15 mm/hour, Women 0-20 mm/hour, Children 0-10 mm/hour
|
|
|
What does ELISA stand for?
|
Enzyme Linked Immunosorbent Assay
|
|
|
Are positive or negative results of an ELISA more definitive?
|
positive
|
|
|
What are some of the major advantages of RIA?
|
Can determine if antigen is present in sample, Can determine the concentration of antigen present, Unlikely to have false negatives or positives
|
|
|
What types of molecules are separated in Western, Southern, and Northern blots respectively?
|
Protein, ssDNA, RNA
|
|
|
CD3 is a common specific marker for what cell populations?
|
T cells
|
|
|
CD19 or CD21 is a marker for what cell populations?
|
B cells
|
|
|
CD16 is a marker for what cell populations?
|
NK Cells
|
|
|
Size and CD123 are markers for what cell ppopulations?
|
Dendritic cells
|
|
|
CD10 is found on precursors to what cells found in the bone marrow?
|
T and B cells
|
|
|
CD 69 is an activation marker for what kind of cells?
|
T cells
|
|
|
Forward scatter on Fluorescence activated cell sorters is an indication of what cell atribute?
|
size
|
|
|
Side scatter or granularity on Fluorescence Activated Cell Sorters is an indication of what cell attribute?
|
Internal complexity
|
|
|
What assay is used to confirm the ability of lymphocytes to respond to extracellular signals?
|
Polyclonal mitogen assay
|
|
|
What assay can be used to assess histocompatibility differences between a donor and a recipient?
|
allogenic stimulation
|
|
|
What is the Tunnel assay used for?, How does it work?
|
Detection of apoptotic cell death by labeling DNA fragment ends, Necrotic cell death will not lead to fragmented DNA
|
|
|
What assay measures the conversion of Dihydrorhodamine to Rhodamine and may be used to diagnose chronic granulomatous disease?
|
Neutrophil Oxidative Burst (DHR) assay
|
|
|
Phagocyte activity can be measured by what assays?
|
Latex bead opsonization, DHR assay
|
|
|
What test can be used to test for autoimmune hemolytic anemia?
|
Coombs test
|
|
|
What test involves isolating serum and adding red blood cells of known antigenicity in order to assess for autoreactive antibodies?
|
Indirect Coombs test
|
|
|
What test can be used to test for Rh related hemolytic disease in an infant?
|
Indirect Coombs test
|
|
|
CH50 and AH50 assays measure what process?
|
complement activity
|
|
|
Patients with a deficient alternative complement pathway present what type of recurrent infection?
|
polysacharide coated bacterial infection
|
|
|
C5-C9 deficiency increases succeptibility to what specific infection?
|
Neisseria
|
|
|
What are the major intracellular bacteria?
|
Chlamydia, Listeria, Mycobacteria, Rickettsiae, Brucella
|
|
|
What disease is characterizaed by few or no B cells, very small lymph nodes and the absense of tonsils with rudimentary germinal centers?
|
X-linked agammaglobulinaemia
|
|
|
What antibodies are present in the blood in X-linked agammaglobulinaemia?
|
Usually none except possibly some IgG
|
|
|
True or false, patients with X-linked agammaglobulinaemia will have a normal number of B cell precursors expressing CD19 but not membrane Ig?
|
TRUE
|
|
|
What is the defect in X-linked agammaglobulinaemia (XLA)?
|
Bruton's tyrosine kinase (Btk)
|
|
|
What specific pyogenic bacteria are X-linked agammaglobulinaemia patients most susceptible to?
|
Those with polysacharide capsules resistent to phagocytosis like:, Haemophilus influenzae, Streptococcus pneumoniae, Streptococcus pyogenes, and Staphylococcus aureus
|
|
|
What are the major B-cell markers?
|
CD19, 20 and 21
|
|
|
What viruses are XLA patients most vulnerable to infection with?
|
enteroviruses (echovirus, poliovirus, coxsackievirus)
|
|
|
Lack of IgA in XLA patients increases susceptibility to what infections?
|
parasites like Giardia
|
|
|
A 3 year old with fever cough and SOB, having recurrent infections for the last 2 years and no B cells, older brother died of pneumonia at 2 years old, what disease is suspect?
|
X-linked agammaglobulinaemia
|
|
|
Why are XLA patients more susceptible to encapsulated bacteria?
|
Encapsulated bacteria resist phagocytosis unless they are coated by antibodies that fix complement
|
|
|
What is the most potent receptor for the phagocytosis of pyogenic bacteria?
|
iC3b
|
|
|
How is XLA treated?
|
Periodical (usually monthly) infusion of large doses of gammaglobulin
|
|
|
Which pathway of complement activation is required for opsonization of encapsulated bacteria?
|
Classical pathway
|
|
|
IgA deficient individuals may develop what adverse reaction to blood transfusion?
|
anaphylaxis (due to antibodies to IgA
|
|
|
What X-linked disease results from failure of immunoglobulin isotype switching?
|
Hyper IgM syndrome
|
|
|
What is the treatment of IgA and IgG deficiencies?
|
Like XLA: Periodical (usually monthly) infusion of large doses of gammaglobulin
|
|
|
Hyper IgM syndrome patients have deficiency in both humoral and cell mediated response. T or F?
|
TRUE
|
|
|
Lack of macrophage stimulation in Hyper IgM patients results in low production of what important cytokine for the generation of granulocytes and myelomonocytes?
|
GM-CSF
|
|
|
What feature of Hyper IgM syndrome leads to development of severe sores and blisters in the mouth and throat?
|
Neutropenia
|
|
|
How is Hyper IgM syndrome treated?
|
administering appropriate antibiotic and periodic infusion with gammaglobulin, Infusion of GM-CSF for Neutropenia related problems
|
|
|
Which cytokines are responsible for switching to IgE?
|
IL 4 and IL 13
|
|
|
Which cytokines are responsible for switching to IgA?
|
IL5 and TGF beta
|
|
|
Which cytokines are responsible for switching to IgG?
|
IL4
|
|
|
Interaction of what molecules induces transcription of AID gene?
|
CD40 and CD40L
|
|
|
Chronic pyogenic and opportunistic infections in young boys are possibly an indication of what hereditary disease?
|
Hyper IgM syndrome
|
|
|
What study is done for specific diagnosis of Hyper IgM syndrome?
|
T cell activation study (T cells cultured with PMA (mitogen) and soluable CD40 protein
|
|
|
Hyper IgM syndrome in a girl whose parent's are not affected is more likely caused by CD40L or AID deficiency?
|
AID deficiency, (autosomal inheritence)
|
|
|
Deficiency in what enzymes can lead to Hyper IgM syndrome?
|
Activation-Induced Cytadine Deaminase (AID), Uracil DNA glycosylase (UNG)
|
|
|
What type of infections do AID deficient patients suffer from ?
|
pyogenic infections, (Not opportunistic infections because the defect is solely in B cells)
|
|
|
A patient who does not exhibit isotype switching normally but will with stimulation by anti-CD4 and IL4 most likely has what type of Hyper IgM syndrome?
|
CD40L deficiency
|
|
|
Why are B cell follicles enlarged in AID deficient patients?
|
B cells proliferate but do not undergo affinity maturation
|
|
|
What type of immunodeficiency is caused by a delay (up to 36 months) in IgG synthesis in infants?
|
Transient Hypogammaglobulinaemia of infancy
|
|
|
What primary immunodeficiency occurs in the 3rd or 4th decade of life?
|
Common variable immunodeficiency
|
|
|
What inherited immunodeficiency diseases are characterized by a lack of T and B cells?
|
3 of the 4 SCID disorders, ADA deficiency, PNP deficiency, Autosomal scid DNA repair defect, (DiGeorge has variable numbers of T and B cells)
|
|
|
X-linked scid gamma chain deficiency is characterized by an absense of what cells?
|
T cells
|
|
|
What disease is associated with a lack of CD8 T cells and TAP mutations?, Patients with this disease are more succeptible to what other conditions?
|
MHC Class I deficiency, Chronic lung and skin inflammation
|
|
|
Thymic aplasia with a variablel number of T and B cells is associated with what inherited immunodeficiency disorder?
|
DiGeorge Syndrome
|
|
|
What condition is associated with defective anti-polysacharide antibody and impaired T cell activation as well as susceptibility to encapsulated extracellular bacteria?
|
Wiskott-Aldrich syndrome
|
|
|
How are WASP gene defects inherited?
|
X-linked
|
|
|
A patient with no B cells and increased susceptibility to extracellular bacteria and viruses most likely has what defect and what disease?
|
Loss of Btk (Bruton's tyrosine kinase), X-linked agammaglobulinemia
|
|
|
A patient exhibiting no isotype switching and an increased susceptibility to extracellular bacteria, pneumocystis jiroveci, and cryptosporidium parvum most likely has what defect and what disease?
|
Defective CD40 ligand, X-linked Hyper IgM syndrome
|
|
|
What MHC linked disease is associated with defective production of IgA and IgG and susceptibility to extracellular bacteria?
|
Common variable immunodeficiency
|
|
|
What MHC linked disease is associated with no IgA synthesis and susceptibility to respiratory infections?
|
Selective IgA deficiency
|
|
|
Phagocyte deficiencies are associated with what susceptibilities?
|
Extracellular bacteria and fungi
|
|
|
Complement deficiencies are associated with what susceptibilities?
|
Extracellular bacteria, esp. Neisseria
|
|
|
Natural Killer cell defect is associated with what susceptibilities?
|
Herpes viruses
|
|
|
EBV driven B cell tumors are associated with inability to control B cell growth is associated with what specific mutation and what disease?
|
SH2D1A , X-linked lymphoproliferative syndrome
|
|
|
A reduction in T cells caused by a gene with PI 3-Kinase homology with increased susceptibility to respiratory infections is indicative of what disease?
|
Ataxia Telangiectasia
|
|
|
What disease is caused by a defective DNA helicase and is associated with reduced T cells and antibody levels and susceptibility to respiratory infections?
|
Bloom's syndrome
|
|
|
What disease is associated with a late onset of inability for B cells to differentiate into plasma cells?
|
Common variable immunodeficiency
|
|
|
What is the definitive treatment for SCID?
|
Bone marrow transplant
|
|
|
What are the cardinal features of SCID?
|
Lymphocyte deficiency and failure of thymus development , Profound deficiency in cell-mediated immunity , Recurrent infections in early life (contrast with XLA)
|
|
|
What are the common clinical manifestations of SCID and their etiological agents?
|
Diarrhea (Rotavirus or GI bacteria), Pneumonia (Pneumocystis carinii, Pseudomonas, CMV), Oral thrush or skin infection (Candida albicans, Varicella), Failure to thrive
|
|
|
What genetic defect is responsible for X-linked SCID?
|
gamma chain of IL-2 receptors on T cells
|
|
|
Resting mature B-cells express what chains of the IL-2 receptor?
|
beta and gamma
|
|
|
What is the site of positive selection of thymocytes?
|
Cortex of the thymus
|
|
|
The three pathways induced by ZAP70 are what?
|
i) Induction of NFAT (Nuclear Factor of Activated T cells), ii) Induction of NFkB , iii) Induction of AP-1
|
|
|
What tyrosine phosphatase expressed on all hematopoetic cells is also called Leukocyte Common antigen?
|
CD45
|
|
|
The following mitogens are associated with what responding cells respectively?, Phytohemagglutinin, Concanavalin A, Pokeweed Mitogen, Lipopolysacharide
|
Phytohemagglutinin - T cells only, Concanavalin A - T cells only, Pokeweed Mitogen - T cells and B cells, Lipopolysacharide - B cells only
|
|
|
What is the treatment for X linked SCID?
|
IV gamma globulin , Appropriate antimicrobials, Bone marrow transplant (definitive)
|
|
|
What defects cause autosomal SCID?
|
Adenosine deaminase (ADA) deficiency , Purine nucleoside phosphorylase (PNP) deficiency, RAG gene deficiency
|
|
|
Deficiency of what enzyme leads to accumulation of a toxic metabolite, dATP leading to inhibition of ribonucleotide reductase?
|
Adenosine Deaminase (ADA)
|
|
|
Lymphocytes are relatively deficient in what enzyme which makes them more affected by ADA deficiency?
|
5' Nucleosidase
|
|
|
What types fo infections are ADA deficiency SCID patients susceptible to?
|
Pyogenic and Opportunistic infections
|
|
|
X-rays of SCID patients have what characteristics?
|
absence of thymic shadow
|
|
|
What is the treatment for SCID due to ADA deficiency?
|
Administration of ADA, Gene therapy, Bone Marrow Transplant
|
|
|
Recombination of human TCR alpha and beta genes is mediated by what enzymes?
|
RAG 1 and RAG 2
|
|
|
Defect or absence of the RAG gene gives rise to what conditions respectively?
|
Omenn Syndrome, SCID
|
|
|
Omenn syndrome is characterized by what clinical manifestations?
|
early onset of a generalized red rash, failure to thrive, protracted diarrhea, enlargement of the liver, spleen, and lymph nodes
|
|
|
What immunodeficiency syndrome is associated with an accumulation of guanosine metabolites?
|
Purine nucleotide phosphorylase (PNP) Deficiency
|
|
|
Deficiency of what enzymes leads to the inability to cleave and repair DNA during somatic recombination of T cell and B cell receptors?
|
RAG 1 and RAG 2
|
|
|
MHC class I molecule deficiency is the result of mutation in what gene?
|
TAP gene
|
|
|
Individuals with MHCI deficiency fail to develop what cells?
|
CD8
|
|
|
MHC class I molecule deficiency increases succeptibility to what infections?
|
Intracellular bacteria, Viral Infections
|
|
|
MHC class II molecule deficiency is due to defects in what molecules essential for the expression of MHC class II?, What is the condition that this gives rise to?
|
Transcriptional regulators (CIITA, and 3 components of RFX), Bare lymphocyte syndrome
|
|
|
What infections are individuals with MHC class II deficiencies more likely to suffer from?
|
Fungi , Extracellular pathogens
|
|
|
Expression of almost all MHC II molecules is induced by what cytokine?
|
IFN-gamma
|
|
|
The MHC gene complex is located in what part of the genome?
|
short arm of chromosome 6
|
|
|
What is the name of the fragment left bound to the MHC class II molecule when the invariant chain is cleaved?
|
CLIP
|
|
|
Binding of what molecule to MHC II molecules facilitates the release of CLIP?
|
HLA-DM
|
|
|
In what disease do patients suffer from the inability of T cells to reorganize their actin cytoskeleton when required?
|
Wiscott Aldrich syndrome
|
|
|
What is the classic triad of Wiscott-Aldrich syndrome?
|
Thrombocytopenia, recurrent infection, Eczema
|
|
|
The defect in Wiscott-Aldrich syndrome is in a gene on which chromosome?
|
X chromosome
|
|
|
CD40 CD40 Ligand interaction is imporatnt in what process?
|
class switching
|
|
|
DiGeorge syndrome is due to the defective development of which embryological structure?
|
third and fourth pharyngeal pouches
|
|
|
What are the derivatives of the third and fourth pharyngeal pouches?
|
Thymus, Parathyroid, Great Vessels, Heart
|
|
|
What specific gene is believed to be mutated in DiGeorge syndrome?
|
a member of the T-box family
|
|
|
A patient suffering from recurrent infections associated with cardiac abnormalities and tetany may have what congenital disease? Explain the cause of the tetany.
|
DiGeorge syndrome, hypo/aplasia of the parathyroid glands
|
|
|
What are the facial characteristics associated with DiGeorge syndrome?
|
Hypertelorism (widely set eyes), Low set ears, Shortened philtrum of the upper lip
|
|
|
What area of the lymphoid tissues are depleted in DiGeorge syndrome?
|
Paracortical areas of lymph nodes and PALS of spleen, (T cell zones)
|
|
|
Patients suffering from DiGeorge syndrome are susceptible to what types of infections?
|
fungal and certain viral infections (due to lack of cell mediated immunity)
|
|
|
Hypoplastic PALS is indicative of a deficiency in what type of cells?
|
T cells
|
|
|
What autosomal recessive immunodeficiency disease is associated with a wobbly gate developed at about 18 months and dilated capilaries later in childhood?
|
Heriditary Ataxia-Telangiectasia
|
|
|
Telangiectasias appear in children with HAT at about what age?
|
2-8 years
|
|
|
Hereditary Ataxia-Telangiectasia is associated with deficiencies in what immunoglobulins?
|
IgA and some IgG2 and IgG4
|
|
|
What types of infections are patients with Hereditary Ataxia-Telangiectasia most susceptible to?
|
Severe sinus and lung infection
|
|
|
The defect in Hereditary Ataxia-Telangiectasia is in which gene?
|
Chromosome 7 and 14 at the site of TCR gene and the genes encoding the heavy chains of immunoglobulin
|
|
|
Deficiency of IFN gamma or IL 12 receptors that lead to defective cell-mediated immune responses are associated with what disease?
|
T cell related defect
|
|
|
IFN gamma deficiencies leading to T cell related defect are associated with a lack of activation of what cells?
|
Macrophages
|
|
|
What particular infection is most commonly associated with T cell related defect?
|
mycobacterium avium complex
|
|
|
True or false, BCG vaccination is critical in preventing serious infection in patients with T cell related defect.
|
False, BCG may precipitate disseminated infection
|
|
|
What disease is associated with failure to control the normal proliferation of CTLs following an infection with Epstein-Barr virus?
|
X-linked lymphoproliferative syndrome
|
|
|
X-linked lymphoproliferative syndrome results from a defect in what gene on the X chromosome which encodes for what protein?
|
SH2D1A, SLAM-associated protein (SAP)
|
|
|
What are the 4 major complications of X-linked lymphoproliferative syndrome?
|
fatal infectious mononucleosis, Or, agammaglobulinemia following complete destruction of the B cells, Or. fatal lymphoid malignancy, Or, aplastic anemia
|
|
|
Deficiencies of C2 and other components of the classical component pathway, what is the major manifestation?
|
SLE like autoimmune disease
|
|
|
What complement proteins are associated with with immune complex disease?
|
C1, C2, C4
|
|
|
What is complement fixation?
|
The covalent binding of C3b on pathogens surface (the most important function of complement system)
|
|
|
What are the major effects of deficiencies in each of the following complent proteins?, C1, C2, C4, C3, C5-9, Factor D, properdin (factor P), Factor I, DAF, CD59
|
C1, C2, C4 - Immune complex disease, C3 - encapsulated bacteria susceptibility, C5-9 - susceptibility to Neisseria, Factor D, properdin (factor P) - encapsulated bacteria and Neisseria susceptibility, Factor I - Similar to C3, DAF, CD59 - Auto-immune like conditions including paroxysmal nocturnal hemoglobinuria
|
|
|
What plasma serine protease inactivates the C4b component of the C3 convertase?
|
Factor I
|
|
|
Recurrent pyogenic infection with omphalitis and an absence of pus may be indicative of what disease?
|
Leukocyte adhesion deficiency
|
|
|
Deficiency of what plasma protein reduces deposition of C3, limiting the formation of MAC?
|
Properdin (factor P)
|
|
|
Properdin is associated mainly with which complement pathway?
|
alternative pathway
|
|
|
Lack of what factors, leads to the uninhibited effect of complement activation and paroxysmal nocturnal hemoglobinuria?
|
DAF or CD59
|
|
|
Absence of the C1 inhibitor C1INH leads to what disease associated with uncontrolled activation of the classical pathway?
|
Hereditary angioneurotic edema, (Hereditary angioedema)
|
|
|
Accumulation of what molecule results in hereditary angioneurotic edema?
|
C2a
|
|
|
How can Hereditary angioneurotic edema be differentiated from hypersensitivity reactions?
|
Hypersensitivity is associated with IgE and Eosinophils, Hereditary angioneurotic edema will have decreased C2 and C4
|
|
|
What kind of phagocyte deficiency results from mutations in the gene encoding CD18 (a common subunit of leukocyte integrins)?
|
Leukocyte adhesion deficiency
|
|
|
True or false the number of leukocytes is reduced in leukocyte adhesion deficiency?
|
FALSE
|
|
|
What are the cardinal features of leukocyte adhesion deficiency?
|
Absence of pus, Recurrent pyogenic infection, Omphalitis
|
|
|
In what disease is the antibacterial activity of phagocytes is compromised by their inability to produce the superoxide radical O2-?
|
Chronic granulomatous disease
|
|
|
What defects cause chronic granulomatous disease?
|
Mutations affecting any of the four proteins of the NADPH oxidase system
|
|
|
What are the catalase producing organisms?
|
Staphylococci, P. Aerugenosa, Candida, Aspergillus, Enterobacteriaceae (Shigella, salmonella, etc.)
|
|
|
What test is diagnostic for chronic granulomatous disease?
|
Nitroblue tetrazoleum (NBT)
|
|
|
A negative (yellow) nitroblue tetrazoleum (NBT) is an indication of what?
|
CGD
|
|
|
A patient with CGD like deficiency with anemia is most likely what condition?
|
Glucose 6 phosphate dehydrogenase
|
|
|
Partial ablinism is associated with what defect in phagocytes?
|
Chediak-Higashi syndrome
|
