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CRAM > immuno > Flashcards

immuno Flashcards

1
Q

What is the most common mutation that is involved in SCID?

A

A mutation that codes for the gamma chain of an IL2 receptor

X linked reccessive

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2
Q

What is another mutation that can cause a SCID? One that effects the maturation and proliferation of B and T cells

A

ADA deficiency

Autosomal recessive

With this deficiency there is an accumulation of adenosine and deoxyadenosine which accumulate as dATP.

this inhibits ribonucleotide reductase and impairs DNA synthesis in B and T cells

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3
Q

What does a mutation in the RAG gene do and how does it cause a SCID?

A

Cannot have any VDJ recombination and no new immunoglobulins are made. Immune system is basically absent

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4
Q

What are the symptoms that occur in a SCID?

A

RECURRENT infections specifically opportunistic infections including candida, nontuberculosis mycobacteria, and pneumocystis jirovecii

Chronic diarrhea and failure to thrive

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5
Q

What are some ways in which SCID can be diagnosed and what will the results show?

A

Newborn screening tests will show low levels of TRECs

There will be a low lymphocyte count with les than 20% T cells

Absence of thymic shadow on XRAY

Absent germinal centers

Genetic testing

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6
Q

What are the symptoms of ataxia telangiectasia?

A

Poor coordination and dilated blood vessels: can have telangiectasias in the eyes

Can have recurrent respiratory infections as well

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7
Q

A mutation in the _____ gene is seen in ataxia telangiectasia

A

ATM; cannot repair DNA

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8
Q

What are the lab findings in ataxia telangiectasia?

A

Increased alpha fetoprotein

Decreased IgA, IgG and IgE

lymphopenia: low lymphocytes count

increased risk of cancer

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9
Q

What is the major mutation that occurs in Hyper IgM syndrome?

A

CD40L deficiency which does not allow for class switching

X linked recessive

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10
Q

What are the symptoms that are seen in Hyper IgM syndrome?

A

Increased opportunistic infections

Recurrent pyogenic infections: sinusitis, pneumonia, otitis

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11
Q

What do the labs show in hyper IgM syndrome?

A

Drastically decreased IgG, IgA, IgE and high IgM

No germinal centers in lymph nodes

Genetic testing

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12
Q

What is the mutation that occurs in Wiskott Aldrich syndrome?

A

X linked mutation in the WAS gene

codes for WASp: impaired immune response and more prone to infections

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13
Q

What kind of infections are patients with WAS more at risk for?

A

Encapsulated

Opportunistic

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14
Q

What are the symptoms that are seen with WAS?

A

Eczema
Autoimmune hemolytic anemia and purpura can be seen

Thrombocytopenia: easy bleeding and petechiae, bloody diarrhea, nosebleeds

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15
Q

What will the labs show in WAS?

A

Increased IgA and IgE

Normal or decreased IgG and IgM

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16
Q

What are the symptoms that occur in X linked agammaglobulinemia?

A

Recurrent bacterial and enteroviral infections AFTER 6 months (when they run out of the mothers Igs from pregnancy)

because decreased B cells and decreased immunoglobulins

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17
Q

What are the common pathogens that affect patients with Bruton agammaglobulinemia?

A

Encapsulated: strep pneumo, neisseria, klebsiella, H flu, pseudomonas aeruginosa

SINNUSITIS OTITIS MEDIA PNEUMONIA are common

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18
Q

Individuals with X linked agammaglobulinemia must avoid _____ ________ vaccines

A

Live attenuated vaccines (polio)

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19
Q

What are the physical exam characteristics of some one who has X linked agammaglobulinemia?

A

Decreased size of lymph nodes and tonsils

Absence of B cells

Decreased levels of all Igs

20
Q

What is the most common and least serious immunodeficiency?

A

IgA

21
Q

Describe selective IgA deficiency

A

Decreased IgA leading to recurrent respiratory and entero infections but typically are asymptomatic

Can lead to other autoimmune diseases and allergies, rhinitis, asthma

22
Q

Patients with selective IgA deficiency will be at an increased risk of ________

A

giardiasis

23
Q

What are the symptoms that are seen in CVID>

A

Seen in early adulthood: recurrent infections: bronchiectasis

Increased risks of lymphomas, autoimmune anemia

24
Q

What will the labs show from a patient with CVID?

A

Decreased plasma cells and Igs

25
Q

What are the differences in defects between digeorge syndrome and velocardiofacial syndrome?

A

DiGeorge usually has thymic, parathyroid, and cardiac defects.

VCF has facial and cardiac defects

26
Q

What is the mutation that is involved in IL12 receptor deficiency?

A

IL12RB

27
Q

If a patient receives a BCG vaccine and becomes symptomatic, what are you thinking?

A

IL-12 receptor deficiency

increased risk of mycobacterial infections

28
Q

What will labs show in an IL-12 receptor deficiency?

A

Decreased IFN-gamma

29
Q

Autosomal dominant hyperimmunoglobulin E syndrome involves a mutation in _______ which affects the differentiation of Th____ cells

A

STAT3 which affects the differentiation of Th17 cells

30
Q

What are the symptoms that are seen in hyper IgE syndrome?

A

Eczematous rashes

Bacterial lung infections

Recurrent colds

Coarse facies: prominent forehead, flat nose, large tongue

failure to lose baby teeth

osteopenia

31
Q

What will labs show in a patient with hyper IgE syndrome?

A

Increased IgE and increased eosinophils

32
Q

If there is a defect in AIRE gene, what infections will likely occur?

A

Candida because there is decreased T cell function

skin nail and mucous membrane infections

33
Q

______ ______ ______ is an autosomal recessive disorder that is a defect in the LFA1 integrin

A

Leukocyte adhesion deficiency

This causes an issue with leukocyte chemotaxis and migration

34
Q

What is the cytokine that codes for LFA1

A

CD18

35
Q

What are the symptoms of leukocyte adhesion deficiency?

A

Late separation of the umbilical cord: because decreased phagocytes (longer than a month sometimes- normal is 1-2 weeks)

Absent pus

Dysfunctional neutrophils

recurrent skin and bacterial infection

36
Q

Which lymphocytic cell line will be present in the blood but NOT at infection sites in a patient with LAD?

A

Neutrophils and phagocytes

37
Q

In ______ _______ syndrome, there is a mutation in the LYST gene which codes for lysosomal trafficking

A

Chediak higashi

38
Q

What are the symptoms of Chediak Higashi syndrome? (PLAIN pneumonic)

A

Progressive neurodegeneration

Lymphohistiocytosis

Albinism: decreased melanocytes

Infections (pyogenic)

Neuropathy

39
Q

What characterizes the accelerated phase of chediak higashi syndrome?

A

Ly,phohistiocytosis: lymph nodes invade the organs and cause problems: liver, spleen, bone marrow

40
Q

Chronic granulomatous disease is a defect in _______ oxidase which does not allow for as intense of an immune response

A

NADPH: decreased ROS and decreased respiratory burst

41
Q

What is the inheritance patter of CGD?

A

X linked reccessive: mostly effects males

42
Q

Which organisms are patients with chronic granulomatous disease the most at risk for?

A

Catalase positive organisms

43
Q

What are the symptoms of CGD?

A

Recurrent pneumonia

Recurrent skin and soft tissue infections

44
Q

When I say NEGATIVE nitroblue tetrazolium test you say? >

A

CGD

45
Q

What kinds of infections are patients that have a C1-C4 complement deficiency most at risk for?

A

Increased risk of recurrent pyogenic infections

Autoimmune manifestations

46
Q

What are the infections that patients who have a terminal complement deficiency most at risk for?

A

Recurrent neisseria infections

Increased risk for meningitis and gonorrhea

CRAM (12 decks)

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