Immunodeficiencies Flashcards
Where does B cell maturation take place
Bone marrow
Where does T cell maturation take place
Thymus
What is the primary site of hematopoiesis starting in embryonic period
BOne marrow
What type of T cells do you find in the cortex
immature t cells coming from bone marrow
Where are hassall corpuscles located?
in medulla of thymus
Where do APCs interact with T /B cells
lymph nodes
T cells in paracortex
B cells in germinal center
Viruses and tumors bind to MHC class ________
Class 1 : CD8+
Bacteria, allergens , exogenous pathoogens bind to MHC class ________
Class 2 : CD4+
What kind of cells reside in peripheral organ /tissues?
Mature B/T cells
lymph nodes
spleen
mucosa associated lymphoid tissues
MHC class 1 is present on ____________
MHC class 2 is present on _____________
all nucleated cells
APCS
What is the importance of HLA polymorphisms?
- important when considering organ transplants
2. associated with certain autoimmune diseases
Cell mediated immunity requires ________ cell proliferation
T cell prolifeation, differentiation, migration , killing
If T helper cells are no longer intact what part of B cell differentiation does this efffect?
Isotype switching
affinity maturation
In general something wrong with T helpers WILL EFFECT HUMORAL IIMMUNITY (AB mediated)
which Ig antibody protects the mother but does not cross the placenta and cannot protect the child?
IgM
Lack of which Ig increases susceptibility to mucosal infections?
IgA
Which Ig , if measured, provides information about presence of ongoing infection
IgG
Virus infected cells have what property that contribute to destruction of cells?
decreased expression of MHC class 1
MHC class 1 inhibits NK cells
What DIRECTLY contribute to a patients presentation of angioedema?
degranulation of mast cells. ( this causes what you are able to see)
WHat constitutes a late reaction TYpe 1 hypersensitivity?
inflammatory cells: eusinophils, basophils
epithelial damage
bronchospasm
What constitues an immediate type 1 hypersensitivity
- bronchoconstriction,
- edema (vascular leakage)
- muscle spasm (increase bowel peristalsis)
from mast cell degranulation
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?
Eusinophilic
- this is eusinophilic esophagitis Type 1 (Late) Hypersenstivity
What are the 3 mechanisms of type 2 hypersensitivity?
- inflammation
- opsonization /phagocytosis
- cellular dysfunction (inhibiting receptors/ acitivating)
Which type hypersensitivity results in low cell count?
Type. 2
ex. autoimmune hemolytic anemia, autoimmune thrombocytopeia
What is the mechanism of Autoimmune hemolytic anemia and autoimmune thrombocytopeia?
Opsonization/ phagocytosis (LOW CELLS)
TYPE 2 Hypersensitivty
What are the 3 type 2 hypersensitivity diseases caused by inflammatory mechanism?
- vasculitis
- good pasture
- acute rheumatic fever
Describe type 2 hypersensitivity inflammatory mechanism ?
- Fc receptor / complement bind
2. then, neutrophil enzymes , and ROS release causing tissue injury
Which of the following is a result of protein targeting in the basement membrane of kidney glomeruli and lung alveoli?
- Good pasture
- rheumatic fever
- systemic lupus
- asthma
- acute sclerosis
Good Pasture. (Type 2 )
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)
Which hypersensitivity results in disrupted endocrine signaling and neural signaling?
Type 2 (mechanism of cellular dysfunction)
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)
Ag-Ab complexes produce tissue damage mainly by causing inflammation where?
At site of DEPOSITION (type 3)
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)
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
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.
Which of the following would show grainy, patchy immunofluorescence?
A. SLE
B. vasculitis
C. good pasture
D. Asthma
GRAINY= TYPE 3
This is A.
A post streptococcal cross reactive antibodies in theKIDNEY would cause what type of immunoflurorescence?
GRAINY. (TYPE 3)
Antibodies cause DEPOSITION in the kidney
post streptococcal cross reactive antibodies in the HEART would cause what type of immunoflurorescence?
SMOOTH / LINEAR (type 2)
the antibodies act DIRECTLY ON MYOCARDIUM
WHich _________(CD4 / CD8) causes DIRECT tissue injury?
CD8
Granulomatous inflammation is a hallmark of _________
Type 4 hypersensitivity
Which _________(CD4 / CD8) causes mediates formation of immune granulomas?
CD4 that release TNF / INF —-> recruit macrophages
Chronic arthritis and destruction of articular cartilages is caused by what mechanism ?
T cell mediated inflammation
What is the cause of local swelling and induration following the administration of mantouxtest?
sensitized t cells start inflammatory response (TYpe 4)
Type 1 diabetes and rheumatoid arthritis are both type ______
4
What is a rare local effect of vaccination?
Arthus reaction (type 3 )
Th1 cells releasing cytokines and activating marcrophages produces what kind of immunofluorescence?
Type 4 hypersensitivty
What 3 requirements to truly define as autoimmune ?
- presence of immune rxn to specific SELF antigen or SELF tissue
- rxn is NOT sECONDARY to tissue damage but rather the primary cause
- abscence of another well defined disease
THe process by which T cells die of APOPTOSIS after selecting for self reactivity is called _______ tolerance?
CENTRAL
occurs in thymus
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
What are the 2 main mechanisms of peripheral tolerance?
- anergy (failure to respond)
2. suppression by T regs
Tumors and viruses can use ______ and _____ receptors to avoid immune destruction?
CTLA
PD1
Patients with Gene knockout of CTLA and PD1 develop__________
autoimmune diseaseG
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
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
What are the functions of TREGS
cytokine immunosuppression ( IL-10 , TGF B)
CTLA 4 inhibition
What is AIRE critical for?
(thymus) deletion of immature Tcells that attack SELF
Immune dysregulation, polyendocrynopathy , enteropathy , Xlinked is caused by _____________
IPEX : deletion of FOxP3
What disease is associated with Class 1 HLA B27
- high tsh levels
- hereditary inflammatory joints in the spine
- keratosis of the oral mucosa
- malar rash
- Ankylosing spondylylitis
INability of paneth cells in intestinal epitheilium to kill microbes is associated with polymophisms in ________
NOS 2 gene (CHRONS disease)
Rheumatoid arthritis and type 1 diabetes is associated with polymophisms in ________
PTNPN22 gene
results in excessive lymphocyte production
What two tests are diagnostic for SLE
anti DS DNA
Anti smith
Homogenous staining of ANA is consistent with what autotimmune disease
SLE
speckled staining of ANA is consistent with what autotimmune disease
Sjorgens
Nucleolar staining of ANA is consistent with what autotimmune disease
systemic sclerosis
What genetic predispostiion increases risk for SLE?
HLA -DQ
List 4 other symptoms other than malar or discoid rash for SLE?
arthritis
oral ulcers
renal disorder
photosensitivity
What lab test is important to do routinely for SLE patient?
CBC due to how it affects hematology and renal
What environmental factor is involved in pathogensis of SLE?
UV light
WHat kind of staining would be seen with diffuse lupus nephritis and why?
grainy due to immune complex formation
What sxs present with diffuse lupus nephritis?
URINALYSIS
proteinuria
hematuria
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
What are 2 cardio complications of SLE?
Libman Sacks endocarditis
coronary artery disease (possible contribution from antiphopholipid ab syndrome?
positive ANA, discoid rash, (+) immunofluoresc. = ____
discoid lupus
(+) arthralgias, (+) ANA, discoid rash, (+) hematologic disease, (+) immunofl. = _____________
drug induced lupus
If you suspect drug induced lupus you would see a positive test for __________
anti- histone Ab
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
What are 2 complications of Sjorgens?
lymphoma *because it is pathogenesis is mediated by T / B cells
pulmonary fibrosis
What is eessential for dx of sjorgens
BIOPSY of lip ( to examine minor salivary glands)
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)
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:
- Pallor, cyanosis, and erythema of the hands
- Calcium deposits on digits
- Blanching vascular abnormalities
- Hypercoagulable state
- Heartburn and regurgitation
4.
CREST SYNDROME
Calcinosis Raynauds Esophageal dysfucntion Telangiectasis Sclerdactyly
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:
- Pallor, cyanosis, and erythema of the hands
- Calcium deposits on digits
- Blanching vascular abnormalities
- Hypercoagulable state
- Heartburn and regurgitation
4.
CREST SYNDROME
Calcinosis
Raynauds
Esophageal dysfucntion
Telangiectasis
Sclerdactyly
Anti-centromere antibody= __________ (centromere staining)
Anti DNA topoisomerase = _________ (speckled staining)
CREST syndrome;
Systemic sclerosis
_______ is affected first in Systemic sclerosis , _________ are affected LATER.
Skin. (sclerodactyly , raynauds)
Visceral ORgans: GI tract renal vascular disease, esophageal ulcers, pulmonary fibrosis
What has better prognosis : (+) anti centromere or (+) anti DNA topoisomerase?
(+) anti centromere. (CREST syndrome BETTER PROGNOSIS )
Mixed tissue disorder has high titer of ________
anti- ribonucleoprotein (RNP)
IgG4 -related disease is characterized as _________
fibro inflammatory
Hyperacute rejection is mediated by what type of cell>
B cells
Chronic Ab mediated recjection will result in ________ of vessels of organ tissue
Acute ab mediated rejection will have a (+) )_________stain
Fibrosis
C4d (complement)
A person with Sojrogens is more susceptible to what infection?
candida yeast of tongue
Presence of tubulitis or endothelitis indicates what type of rejection?
Acute cellular rejection (t cell mediated )
days, months, years
After treatment with immunosuppressive patient is at increased risk for what virus? viral induced tumors?
polyomavirus, cytomegalovirus
kaposi sarcoma
lymphoma
Indirect pathway of allorecognition is mediated by ________
RECIPIENTS antigen presenting cell
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
What is inheritance of chediak higashi?
Autosomal recessive
What are 2 disease due to leukocyte disorders?
Chediak Higashi+
Chronic granulomatous disease
What is the cause of chronic granulomatous disease?
failure of phagocyte to produce superoxide
accumulate macrophages because infection persists
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
Pt with C5-C9 deficiency is more susceptible to ?
Neisseria Meningitis
lack of protection against microbes
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
Corkscrew intestine can be a sxs of ________
hereditary angioedema
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
SCID due to adenosine deaminase deficiency is what type of inheritance?
autosomal recessive
X linked SCID is due to_______
mutation s in IL receptor
inhibits maturation and production of T Cells
Failure of pharyngeal pouches 3/ 4 affects develpment of what organs?
Di George
thymus
parathyroid
heart / great vessls
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.
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)
Pts with Xlinked agammaglobulinemia have increased risk of infection with __________
encapsulated bacterial infection
s. pnuemonia
hemophilus influenzae
s. pyogenes
giardia (protozoa)
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
What condition affects B cell class switching?
Hyper IgM syndrome
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.
Deficiency of _______ causes weakened mucosal defenses and increased GI/ urinary bladder infection?
Ig A deficiency
Chronic diarrhea of CVID is due to ________
giardia lamblia
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
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
WHat is the triad of WASP gene mutation
- thrombocytopenia
- eczema
- recurrent infections. (t cell loss and hypogammaglobinemia)
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
Ataxia telangiectasia is what type of inheritance?
Auttosomal recessive
(ATM gene mutation- sensor of DNA damage
Ataxia telangiectasia involves deficiency of what antibodies?
IgA and IgG
Waht are the functions of HIV retroviral genes? (4)
LTR- initiates transcription
gag- encodes proteins inside virus
env - encodes surface glycoproteins
pol: viral enzymes
Which protein is important for drilling into host target cell for HIV
gp41
What is the function of HIV integrase?
inserts proviral DNA into host genome
What initiates viral transcription of HIV DNA?
releases of NFkB by antigenic stimulation
How can HIV access the CNS and cause neuronal damage?
Microglia
What helps HIV be transported to lymph nodes? what happens in the lymph nodes?
mucosal dendritic cells.
viral replication
WHat occurs to B cell response to new antigens in HIV?
it is IMPAIRED due to reduced T cells
____________ (sore throat , muscle aches )occurs at about 3-6 post intial HIV infection.
acute HIV syndrome
- wide dissemination of viurs
seedding lymph organs
Does HIV infect neurons fo the brain?
NO
pathogenisis is via microglia that secrete cytokines
Does HIV infect neurons fo the brain?
NO (LO #42)
pathogenisis is via microglia that secrete cytokines
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
What type of infections is an HIV patient susceptible too in the chronic latent period?
Opportunistic
1.pneumocysitis pneumonia
- tuberculosis
- toxoplasma
- candida
- cryptosporidiujm
Patients with what disease have increased risk of Kaposi sarcom and lymphoma?
HIV
At about 10 days post infection what is the first detectable substance of HIV?
viral RNA NAT
What substance is detected years after initial infection?
HIV antibody
What substance is detected weeks after intial infection
antigen p24
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
Give an example of AIDS defining illness?
PNeumocystis jiroveci
fungal infection of lungs
What causes the virus associated B cell lymphoma in HIV?
Uchecked EBV reactivation in latent infected B cells due to CD4+ depletion
What 4 lymphomas are implicated with AIDS patients?
- Hodgkin
- CNS
- Primary effusino
- cervical / anal cancer
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)
What accumulates in AL amyloidosis?
immunglobin light chains into the blood
due to mutation
Accumulation of SAA protein in AA amyloidosis is due to ________
chronic inflammation
causing liver to secrete AA
ex. SLE, osteomylitis, tuberculosis)
What is the effect of systemic amyloidosis in the Kidney? Heart ?
Kidney: proteinuria and edema
Heart :
dysrhythmias CHF
Amyloidosis can cause ___________ of liver, spleen and tongue
Enlargement
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
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.
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
Infants with SCID present with?
diaper rash , oral candidiasis , FAilure to thrive
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
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.
