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BMS150 test 2 > primary immunodeficiencies (wk 5) > Flashcards

primary immunodeficiencies (wk 5) Flashcards

1
Q

immunodeficiencies

A

Any defect in the immune response that renders an individual more susceptible to infectious diseases that would be cleared by someone who was healthy

Patients with immunodeficiency diseases are more prone to contracting infections and these infections are more likely to end in long-term debilitation or death.
They also have higher risk for developing autoimmunity or cancer.

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2
Q

primary vs secondary immunodeficiencies

A

primary;; inborn, genetic

secondary;; external factors

Primary Immunodeficiencies:
Mostly inborn (genetic) and often detected in infancy or childhood
(though some are detected in adulthood)

Secondary Immunodeficiencies:
Acquired due to external factors (e.g. infection, chemotherapy, medications…)

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3
Q

what is the most common immunodeficiency?

A

isolated IgA deficiency

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4
Q

how do people with immunodeficiencies present?

A

SLIDE 6

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5
Q

B cell deficiencies (primary immunodeficiencies)

A
  • Isolated IgA deficiency
  • Common variable immunodeficiency
  • X-linked agammaglobulinemia (Bruton’s)
  • Hyper IgM syndrome
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6
Q

what are some primary immunodefieicnies

A

-digeorge syndromes

-severe combined immunodeficiency

-innate immunodefieicnes
–>complement deficiencies
–> hereditary hemangioma

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7
Q

what is X-linked agammaglobulinemia (Bruton’s)

A

primary immunodeficiency

Inability of Pro-B cells to differentiate into Pre-B cells

They can make a heavy chain variable region, but not a light chain, so they’re unable to make antibodies

Due to lack of a tyrosine kinase that initiates recombination and antibody formation

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8
Q

X-linked agammaglobulinemia (XLA) (Bruton’s)

A

cant make pro into pre B cell

no light chain- cant make antibodies

lack tyrosine kinase

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9
Q

X-linked agammaglobulinemia (Bruton’s) (XLA)

which gender?

A

males

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10
Q

features of X-linked agammaglobulinemia (Bruton’s) (XLA)

A

Recurrent respiratory infections call attention to the disease Pharyngitis, sinusitis, bronchitis, pneumonia
Most are gram positive bacteria that are usually destroyed by IgG opsonization and phagocytosis

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11
Q

diagnosis of X-linked agammaglobulinemia (Bruton’s) (XLA)

A

B-cells are absent or very much decreased

All immunoglobulins are depressed

B-cell areas of lymphatic tissues are underdeveloped

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12
Q

treat X-linked agammaglobulinemia (Bruton’s) (XLA)

A

IVIG intravenous gammaglobulin

-get antibodies from other peoples plasam= passive immunity so dont die

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13
Q

common variable immunodeficiency what is the common feature in it?

A

hypogammaglobulinemia

usually involving all antibodies but sometimes only IgG

other diagnostic criteria: reduce B cells, recurrent bacterial infections

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14
Q

what immunological issues can be present in common variable immunodeficiency

A

defects in most classes of antibody secretion,

inability of helper T-cells to amplify antibody production,

reduced cytotoxic T-cell activity, and assorted defects in the innate immune system may be present

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15
Q

similarities and difference between common variable immunodeficiency and X-linked agammaglobulinemia (Bruton’s) (XLA)

A

recurrent sinopulmonary infections, giardiasis, and serious enterovirus infections

but common variable immunodefincy
Can also have recurrent, severe herpes infections

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16
Q

common variable immunodeficiency

A

hypogammaglobulinemia

No other B-cell abnormality (isolated IgA, XLA) detected

Reduced (but not absent) immunoglobulins (not as severely reduced as XLA)

B-cell areas of lymphatic tissues are hyperplastic, usually

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17
Q

treatment of vcommon variable immunodeficiency

A

intravenous immunoglobulins IVIG

prognosis: survive 20 years

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18
Q

isolated IgA deficiency

A

common!! esp in caucasians

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19
Q

pathogenesis of isolated IgA deficiency

A

No one knows… defects in a receptor for a B-cell activating cytokine?

Reduced amounts of IgA in serum, very little in secretions, but normal levels of other antibodies and lymphocytes

Lymphatic tissues look pretty much normal under a slide

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20
Q

symptoms of isolated IgA deficiency

A

mostly asymptomatic

History significant for recurrent otitis media, sinusitis, bronchitis, pneumonia, GI tract infections
Like many other B-cell deficiency diseases – however, the immunodeficiency and subsequent infections are not nearly as severe
Also increased incidence of autoimmunity, particularly lupus and RA

A potentially deadly complication is life-threatening anaphylaxis post-blood transfusion
Recognize transfused IgA as foreign

Clinical pearl – the serology for detecting celiac disease is based on detection of IgA antibodies to enzymes that are involved in metabolizing gliadin
IgA deficiency can result in false negatives in these celiac patients

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21
Q

IgA deficiency and which disease to gluten

A

false negative in celiac!!

Clinical pearl – the serology for detecting celiac disease is based on detection of IgA antibodies to enzymes that are involved in metabolizing gliadin

IgA deficiency can result in false negatives in these celiac patients

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22
Q

hyper IgM syndrome

A

patient make IgM but have difficulty producing IgG, IgA, and IgE

Inability of helper T-cells to activate B-cells and macrophages

23
Q

what has a lack of function that causes hyper IgM so that they cant class switch

A

CD40L

24
Q

hyper IgM syndrome is __ linked

A

X linked; there fore males

but the other 30% of patients have other defects – inheritance pattern is autosomal recessive in these instances

25
Q

hyper IgM syndrome features

A

Recurrent pyogenic (purulent) infections
Can be in the CNS, respiratory tract, and GI tract

Many viral infections
Hepatitis, gastroenteritis, encephalitis, pulmonary infections

These people are very immunodeficient – neutrophil counts are also decreased for unknown reasons
High IgM, low on other antibodies, decreased neutrophils, decreased CD40L on T-cells can be used to diagnose

26
Q

treatment and prognosis of hyper IgM syndrome

A

IVIG and intense antibiotic prophylaxis

Prognosis is guarded… meaning often not good (20% survival rate in those 25 and older)

27
Q

what is DiGeorge syndrome AKA

A

22q11 deletion

28
Q

what is the deficiency in DiGeorge syndrome

A

T cell deficiency

29
Q

what makes DiGeorge syndrome different from most other immunodeficiencies?

A

T-cell deficiency – most of the immunodeficiencies involve primarily B-cell defects (at least clinically)

30
Q

what doesnt happen in embryology/ fetal development in DiGeorge syndrome

A

3rd and 4th pharyngeal pouches don’t develop…

So you’re short on a thymus, parathyroid glands, some thyroid tissue
Can also have heart and great vessel defects
Hypothesized that the T-box family of transcription factors is absent or does not function – important transcription factor for branchial/pharyngeal arch development and large vessels
Loss of genetic material on chromosome 22, on the long arm

31
Q

clinical features of DiGeoge syndrome

A

Immunodeficiency: thymic hypoplasia results in variable loss of T-lymphocytes – low in blood and in lymphatic tissue
–>Increased fungal and viral infections
–>Increased autoimmunity (RA, thyroiditis)

Cardiac abnormalities (especially associated with the great vessels)

Craniofacial abnormalities – cleft palate, high and broad nasal bridge, long face, narrow palpebral fissures, and micrognathia

Developmental delay

Hypoparathyroidism… what electrolyte abnormality would this be associated with???

Very complex disorder, usually diagnosed in childhood when cardiac abnormalities are identified and treated surgically

32
Q

DiGeorge syndrome treatment

A

Avoid blood products, can result in graft-vs-host disease

Infectious disease specialist for immunotherapy, antibiotic prophylaxis

Prognosis varies greatly – not everyone has every manifestation

33
Q

severe combined immunodeficiency AKA

A

BUBBLE BOY

34
Q

severe combined immunodeficiency from which pathogens?

A

recurrent, severe infections by a wide range of pathogens

C. albicans, P. jiroveci, Pseudomonas, CMV, varicella, and a ton of different types of bacteria

35
Q

treatment of severe combined immunodeficiency

A

Very severe – need bone marrow transplant or stem- cell therapies or death ensues at a young age

defects in both cell-mediated and humoral immunity

36
Q

what are the 2 genetic mutations that causes severe combined immunodeficnicey

A
  1. x linked
  2. autosomal recessive
37
Q

what is the mutation in x linked severe combined immunodeficiency

A

mutation in the gamma-chain of a variety of cytokine receptors

signal-transducing component of the receptors for IL-2, IL-4, IL-7, IL-9, IL-11, IL-15, and IL-21

very few T-lymphocytes or NK cells… yikes

38
Q

what is the mutation in autosomal recessive for severe combined immunodeficiency

A

due to a mutation in adenosine deaminase
–>accumulation of deoxyadenosine and its derivatives are thought to be toxic to rapidly dividing lymphocytes

RAG mutations (interferes with somatic recombination)– B- and T-cell development blocked

39
Q

what is the pathology of severe combined immunodeficiency?

A

small thymus with very few lymphocytes

depletion of T-cell areas of other lymphatic tissues

40
Q

symptoms of severe combined immunodeficiency

A

Presents very early in life with recurrent severe infections

Occasionally the mother’s T-cells are transferred across the placenta and cause graft-versus-host-disease (mom’s lymphocytes attack baby’s tissues), shows up as a generalized, morbilliform rash

41
Q

Defects in Innate Immunity
–> leukocyte function
–> complement system
CHART ON SLIDE 23

A
42
Q

what is the most common compelement defect

A

C2 deficiency

43
Q

which pathways of complement is C2 in

A

lectin and classical pathway

44
Q

what does C2 complement deficiency look like

A

increased bacterial or viral infections, though many have no increased incidence of infection

alternative pathway is adequate for most cases

45
Q

what can complement defects cause

A

increased risk of SLE lupus

46
Q

what are other complement deficiencies

A

properdin, factor D, C3, and ? deficiencies are uncommon, but result in more severe immunosuppression

47
Q

what type of disorder is hereditary angioedema

A

Autosomal dominant disorder

48
Q

what is the deficient in hereditary angioedema

A

deficit in C1 inhibitor

49
Q

what does hereditary angioedema result in

A

unchecked activation of the classical complement pathway

increased bradykinin production (seems to be the most important molecule in pathogenesis)

increased activation of certain components of the clotting cascade

50
Q

which pathway for heredity angioedema is the C1 inhibitor in

A

classical pathway

51
Q

symptoms of heredity angioedema

A

episodic, attacks usually become progressively more severe can be precipitated by minor trauma (pressure), stress

Symptoms:
severe abdominal pain – can be mistaken for serious abdominal pathology
–.vomiting and diarrhea can also be present

swelling of face, hands, legs, groin – can be life-threatening if airway is involved

pleural effusions and seizures rarely occur

52
Q

treatment and prognosis of heredity angioedema

A

can treat with C1 inhibitor from blood products – greatly improved prognosis

mortality used to range between 20 – 30%

53
Q

use of which drug can increase risk of infections

A

systemic glucocorticoid use

Increased risk with higher doses (e.g. 15-30g prednisone) and for greater than 2-4 weeks
E.g. in IBD patients on corticosteroids alone,
the relative risk of bacterial infections was found to be 5-fold higher
4-fold higher for other infections like strongyloidiasis and tuberculosis
1.5 fold higher for viral infections

54
Q

what infection can systemic sglucocorticoid use cause

A

herpes zoster (shingles)
tuberculosis
strongyloidiasis
Pneumocystis jiroveci pneumonia
=——–

Pneumocystis jiroveci pneumonia

Fungal infection of the lung

Combination antibiotics prophylactically or treatment

Herpes Zoster (Shingles)
Reactivation of varicella zoster virusàpainful rash Vaccinations or antiviral

Tuberculosis
Conversion of latent TB to active formàusually affects lungs
Should be tested for before glucocorticoid treatment and treated with

Strongyloidiasis
A chronic parasitic infection, usually acquired through direct contact with contaminated soil (can be asymptomatic)
Can persist for several decades and can reactivate with glucocorticoid exposure. Treated with antiparasitic

Other opportunistic infections?
Aspergillosis, nontuberculous mycobacterial disease, candidiasis, and cryptococcosis
Evidence for these is less robust

BMS150 test 2 (18 decks)

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