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MOD 1 Exam 2 and 3 > Ch 6: Immunopathies (Part 5 - Immunodeficiency syndromes) > Flashcards

Ch 6: Immunopathies (Part 5 - Immunodeficiency syndromes) Flashcards

1
Q

Name the 2 types of immunodeficiency syndrome you can have.

A

Primary = genetic

Secondary = acquired (ex: HIV)

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2
Q

In general, what infectious diseases can you get with B-cell deficiencies?

A

Pyogenic bacterial infections

Enteric bacterial and viral infections

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3
Q

In general, what infectious diseases can you get with T-cell deficiencies?

A

Viral and other intracellular microbial infections (eg. pneumocystis jiroveci, other fungi, nontuberculous mycobacteria)

Some cancers (eg. EBV associated lymphomas, skin CA)

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4
Q

In general, what infectious diseases can you get with Innate immune deficiencies?

A

Variable - pyogenic, bacterial, anf viral infections

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5
Q

Name some innate immunodeficiencies affecting leukocytes.

A

Chediak Higashi syndrome

Chronic Granulomatous disease

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6
Q

What is Chediak Higashi syndrome?

A

Autosomal recessive

Failure of phagolysosomal fusion
Increased bacterial infection

Fatal w/o stem cell transplant

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7
Q

How can you detect Chediak Higashi histologically?

A

You can observe the failure of fusion on peripheral smear

Giant granules seen
Defects in melanocytes or grey hair streaks

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8
Q

What is chronic granulomatous disease?

A

Common mechanism = failure of superoxide production within phagocytes
Accumulation of macrophages “walls off” infection

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9
Q

Name some innate immunodeficiencies affecting complement.

A

Membrane attach complex deficiency

Hereditary angioedema? (not really, but…)

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10
Q

What is membrane attack complex deficiency?

A

Without final MAC, lysis of microbial membrane can’t occur
Happens when any of C5, 6, 7, 8, 9 are affected

Nisseria infections are common
Results in meningitis

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11
Q

What is hereditary angioedema?

A

Autosomal dominant

Deficiency of C1 inhibitor
Complement system goes nuts and you see increased in complement
Episodes of angioedema

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12
Q

What are some symptoms of hereditary angioedema?

A 
Swelling of lips 
Swelling of airway 
Huge mucosal folds - intestine
Swelling of genitals 
Dysuria 
Cutaneous edema
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13
Q

Name some adaptive immunodeficiencies affecting lymphocyte maturation.

A

Severe Combines Immunodeficiency (SCID)
Digeorge syndrome
X-linked Agammaglobulinemia

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14
Q

What is SCID? What are the 2 forms of inheritance?

A

Deficiency in both B cell and T cell lineages due to defect in T-cell function

2 forms = X-linked and Autosomal recessive

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15
Q

Describe the X-linked version of SCID.

A

Affects MALES
Mutations in IL receptors
T-cell reduced in number
B-cells present but unable to make Ab without T-cell help

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16
Q

Describe the autosomal recessive version of SCID.

A

Adenosine deaminase deficiency = MOST COMMON

Accumulation of toxic purine metabolites
Blocks T-cell formation
Some B-cell influence, but lacks helper T-cells to activate humoral response

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17
Q

How can you treat SCID?

A

Stem cell transplantation

Gene therapy

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18
Q

What is DiGeorge syndrome?

A

Primary deficiency of T-cell due to failure of dev of pharyngeal pouches 3 and 4:
Affects thymus, parathyroid, heart, and great vessels

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19
Q

How is DiGeorge inherited? What chromosome is associated with the disease?

A

May be inherited in sporadic and familial pattern

Many cases are 22q11 deletions

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20
Q

What are some physical manifestations of DiGeorge syndrome?

A

Facial and palatal abnormalities (micrognatia)

Cardiac abnormalities (tetralogy of fallout, trunks arteriosus)

Tetany - (not having enough calcium b/c parathyroid affected)

Immune deficiency
T cell def.
Humoral def if T-cell function if poor enough

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21
Q

What is X-link agammaglobulinemia?

A

Defect in Bruton tyrosine kinase (BTK) gene on X-chromosome - inability of pre-B cells to mature

Risk for infection increases after maternal abs wane, may even present in late childhood

22
Q

What diseases can you get with agammaglobulinemia?

A

Encapsulated bacteria (streptococcus, pseudomonas, homophilus influenza type B)

Viruses
Protozoa (Giardia lamblia)

23
Q

Name some adaptive immunodeficiencies affecting lymphocyte activation/function.

A

Hyper IgM syndrome
Common Variable Immunodeficiency (CVID)
IgA deficiency

24
Q

What is Hyper IgM syndrome?

A

Encapsulated bacterial infections predominate due to lack of opsonizing antibodies

CD40/40L mutations
Interferes with T-cell helping B-cells to class switch

Increase IgM levels, but lower levels of other classes

25
Q

How do you treat Hyper IgM syndrome?

A

IVIG

Stem cell transplantation

26
Q

What is CVID?

A

Multiple disorders resulting in hypogammaglobulinemia

Most common primary immunodeficiency

Encapsulated bacterial infections like X-linked agammaglobulinemia

Disease of exclusion
Later presentation

27
Q

What diseases can you get with CVID?

A

Recurrent sinus and pulmonary infection (pyogenic bacteria)

Granulomas

Chronic diarrhea (Giardia lamblia)

Autoimmune disease (Anemia, thrombocytopenia)

28
Q

What is IgA deficiency?

A

Can occur in familial and acquired forms

Loss of IgA means less defense against inhaled and ingested pathogens

29
Q

What diseases can you get with IgA deficiency?

A 
Sinus and respiratory infections 
Urinary bladder infections 
Gastrointestinal infections 
Autoimmune disease and allergies 
Anaphylactic reaction against red cell transfusion
30
Q

How can you determine if someone have IgA deficiency with blood transfusion?

A

Transfusion-related anaphylaxis

Red cell washing can prevent reactions

31
Q

Name some immunodeficiencies associated with systemic disease.

A

Wiskott Aldrich Syndrome

Ataxia telangiectasia

32
Q

What is Wiskott Aldrich syndrome? What gene is involved? What is the treatment?

A

Triad of:
Thrombocytopenia
Eczema
Recurrent infections

WASP gene mutation

Tx = Stem cell transplant

33
Q

What is ataxia telangiectasia?

A

Neurodegenerative disease = ataxia
Vascular malformation = telangiectasia

Immune deficiency - IgA and IgG

Autosomal recessive inheritance

34
Q

What diseases can you get with ataxia telangiectasia? What gene is involved?

A

Respiratory infections
Autoimmune disease
Cancer (lymphoma)

ATM gene mutation = defective DNA repair

35
Q

Under what clinical conditions can you see secondary immunodeficiency?

A 
Cancer 
Malnutrition = DM 
Metabolic disease 
Chronic illness 
Treatment-related = Chemotherapy, radiation, immunosuppression

AIDS!

36
Q

What is AIDS?

A

Aquired immunodeficiency syndrome

Manifestation of what occurs when HIV affects body to degree where immune dysfunction results in:
Opportunistic infection
Secondary neoplasms
Neurologic manifestations

37
Q

Who can get AIDS?

A

Homosexual men
Blood transfusion recipients
Infants/female

38
Q

Where is AIDS coming from?

A

Retrovirus

Lentivirus family

39
Q

How can sexual transmission spread HIV?

A

Male to Male or Male to Female
Female to male less so
Breaching mucosal barrier (anal or vaginal) introduces virus to bloodstream or infects mucosal dendritic cells

40
Q

What is the synergistic effect of HIV and non-HIV STDs?

A

Inflammation

Ulceration

41
Q

How does HIV spread through the parenteral route?

A 
Intravenous drugs (most common form) 
Transfusions
42
Q

How can HIV spread from mother to child?

A

In utero through placenta to fetus
During delivery with contact of secretions in birth canal
After birth with ingestion of breast milk

43
Q

What is the risk of “seroconversion” (contracting a disease from pt) after needle stick accident in regards to HIV and Hepatitis B?

A

HIV = 0.3%

Hep B = 30%

44
Q

Describe the structure and content of HIV and how we can use these to test fro HIV.

A

Capsid proteins (p24) - test for p24 Ag

Glycoproteins (gp120, gp41) - important for attachment= good drug and vaccine targets

Viral enzymes (protease, reverse transcriptase, integrase)

HIV-1 RNA genome (gag, pol, env retroviral genes)

45
Q

What is the LTR gene of HIV responsible for?

A

Initiates transcription, binds transcription factors

46
Q

What is the gag gene of HIV responsible for?

A

Encodes for proteins inside the virus

47
Q

What is the env gene of HIV responsible for?

A

Encodes for surface glycoproteins

48
Q

What is the pol gene of HIV responsible for?

A

Encodes for viral enzymes

49
Q

Describe how HIV enter a cell.

A

HIV uses a CD4 molecule for a receptor
Coreceptors = CCR5, CXCR4

gp120 binding to CD4 allows secondary binding to co-receptor

After binding occurs, gp41 can use fusion peptide to drill into host cell membrane, inserting the viral genome

50
Q

Describe what happens after HIV enter a cell.

A

Reverse transcriptase synthesizes proviral DS DNA from original RNA genome

Integrase inserts the proviral DNA sequence into host genome

Host cell activation occurs, triggering LTR to initiate transcription of HIV viral RNA

MOD 1 Exam 2 and 3 (9 decks)

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