Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Immunology - First Aid > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

X-linked (Bruton) agammaglobulinemia, Selective IgA deficiency, Common variable immunodeficiency & X-linked hyper IgM syndrome are immunodeficiencies of which cell type?

A

B cell

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Thymic aplasia, IL-12 receptor deficiency, Autosomal dominant hyper-IgE syndrome (Job syndrome) & Chronic mucocutaneous candidiasis are immunodeficiencies of which cell type?

A

T cell

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

B cell immunodeficiencies?

A

X-linked (Bruton) agammaglobulinemia

Selective IgA deficiency

Common variable immunodeficiency

X-linked hyper IgM syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

T cell immunodeficiencies?

A

12CAT

IL-12 receptor deficiency

Chronic mucocutaneous candidiasis

Autosomal dominant hyper-IgE syndrome (Job syndrome)

Thymic aplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the defect in Bruton’s disease?

A

BTK
Bruton tyrosine kinase

defective tyrosine kinase gene → no B-cell maturation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Which B cell immunodeficiency is seen ↑ in boys?

A

X-linked (Bruton) agammaglobulinemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Sign/symptoms of Bruton’s disease?

A
  • Recurrent encapsulated pyogenic bacterial and enteroviral infections after 6 months (↓ maternal IgG)
  • ↓ immunoglobulins of all isotypes
  • ↓ or no circulating B cells in peripheral blood
  • ↓ or small or no lymph nodes & tonsils (1° follicles & germinal centers absent)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Sign/symptoms of X-linked agammaglobulinemia?

Rx considerations?

A
  • Recurrent encapsulated pyogenic bacterial and enteroviral infections after 6 months (↓ maternal IgG)
  • ↓ immunoglobulins of all isotypes
  • ↓ or no circulating B cells in peripheral blood
  • ↓ or small or no lymph nodes & tonsils (1° follicles & germinal centers absent) → live vaccines
    contraindicated

Rx
Monthly gamma-globulin replacement
Antibiotics for infections

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Why do patients with Bruton’s disease have recurrent encapsulated pyogenic bacterial and enteroviral infections after 6 months?

A

↓ maternal IgG

Defective BTK tyrosine kinase gene → no B-cell maturation

After initial maternal Ig protection there is no development of B cell to maintain self cell-mediated immunity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Sign/symptoms of selective IgA deficiency?

A

Presentation:

  • Majority Asymptomatic
  • Repeated Airway (sinopulmonary) and GI infections
  • ↑ Atopy
  • Autoimmune disease
  • Anaphylaxis to IgA in blood products

Findings:

  • ↓ IgA
  • Normal IgG, IgM
  • ↑IgE
  • ↑ susceptibility to giardiasis
  • Can cause false-negative celiac disease test
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Sign/symptoms of common variable immunodeficiency?

A

Presentation:
May present in childhood but usually diagnosed after puberty (late teens, early 20s)
↑ risk of autoimmune disease, bronchiectasis, lymphoma, sinopulmonary infections

Findings:
B cells in peripheral blood
↓ plasma cells
↓ immunoglobulin levels with time

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is the defect in thymic aplasia?

A

22q11 heterozygous microdeletion

Failure to develop 3rd and 4th pharyngeal pouches
→ absent thymus and parathyroids

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Failure to develop 3rd and 4th pharyngeal pouches results in which immunodeficiency disease?

A

Thymic aplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

DiGeorge syndrome is an immunodeficiency of which cell type?

A

T cell

Thymic aplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Velocardiofacial syndrome is an immunodeficiency of which cell type?

A

T cell

Thymic aplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the defect in DiGeorge syndrome?

A

22q11 heterozygous microdeletion

Failure to develop 3rd and 4th pharyngeal pouches
→ absent thymus and parathyroids

along with cardiac defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

How does thymic aplasia present?

What are the findings?

A

CATCH-22:

Cardiac defects (conotruncal abnormalities
[eg, tetralogy of Fallot, truncus arteriosus])

Abnormal facies (fish lips)

Thymic hypoplasia → T-cell deficiency (recurrent viral/ fungal infections)

Cleft palate

Hypocalcemia 2° to parathyroid aplasia → tetany

(only IgM → no class switching)

Findings:
↓ T cells
↓ PTH
↓ Ca2+
Thymic shadow absent on CXR
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is the defect in velocardiofacial syndrome?

A

22q11 heterozygous microdeletion

Failure to develop 3rd and 4th pharyngeal pouches
→ absent thymus and parathyroids

along with palate, facial & cardiac defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is the defect in IL-12 receptor deficiency?

A

↓ Th1 response

autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

How does IL-12 receptor deficiency present?

What are the findings?

A

Presentation:

  • Disseminated mycobacterial and fungal infections
  • may present after administration of BCG vaccine

Findings:
↓ IFN-γ
Most common cause of Mendelian susceptibility to mycobacterial diseases (MSMD)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is the defect in Jobs syndrome?

A

Deficiency of Th17 cells due to STAT3 mutation → impaired recruitment of neutrophils to sites of infection → ↓ IFN-γ

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is the defect in autosomal dominant hyper-IgE syndrome?

A

Jobs syndrome

Deficiency of Th17 cells due to STAT3 mutation → impaired recruitment of neutrophils to sites of infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

How does Jobs syndrome present?

What are the findings?

A

A - Abscesses: cold (noninflamed) staphylococcal severe, recurrent infections

B- retained Baby (primary) teeth

C - Coarse facies

D - Dermatologic problems (eczema) (JOB-Yaqub A.S)

E - ↑ IgE

F - bone Fractures from minor trauma

Findings:
↑ IgE
↑ eosinophils

24
Q

What is the defect in chronic mucocutaneous candidiasis?

A
  • T-cell dysfunction
  • Impaired cell-mediated immunity against Candida sp
  • Classic form caused by defects in AIRE (autoimmune regulator protein)
25
Q

How does chronic mucocutaneous candidiasis present?

What are the findings?

A

Persistent noninvasive Candida albicans infections of skin and mucous membranes

Findings:

  • Absent in vitro T-cell proliferation in response to Candida antigens
  • Absent cutaneous reaction to Candida antigens
26
Q

Persistent Candida albicans infections of skin and mucous membranes are characteristic of which immunodeficiency?

Which immune cells are affected?

A

Chronic mucocutaneous candidiasis

T cells

27
Q

What is the defect in severe combined immunodeficiency (SCID)?

A
  • Defective IL-2 receptor gamma chain (X-linked recessive) most common
  • adenosine deaminase deficiency (autosomal recessive) (boy in a bubble)
  • recombinase gene RAG mutation → VDJ recombination defect
28
Q

Presentation of severe combined immunodeficiency (SCID)?

A
  • Failure to thrive
  • chronic diarrhea
  • Bad diaper rashes
  • Thrush
  • Recurrent viral, bacterial, opportunistic fungal, and protozoal infections
29
Q

Common findings in severe combined immunodeficiency (SCID)?

A

↓ T-cell receptor excision circles (TRECs) (assessment of thymic function > TRECs are expressed only in T cells of thymic origin)

↓ levels of circulating lymphocytes

Part of newborn screening for SCID
Absence of thymic shadow (CXR), germinal centers (lymph node biopsy)
T cells (flow cytometry)
30
Q

What is the defect in ataxia-telangiectasia?

A

Defects in ATM kinase gene → failure to detect DNA damage → failure to halt progression of cell cycle → mutations accumulate

Autosomal recessive

31
Q

Presentation of ataxia-telangiectasia?

A

Triad:

  • Cerebellar defects (Ataxia)
  • Spider Angiomas (telangiectasia)
  • IgA deficiency

↑↑ sensitivity to radiation (limit x-ray exposure)

32
Q

Common findings in ataxia-telangiectasia?

A

↑ AFP (alpha-fetoprotein)

↓ IgA, IgG, and IgE

Lymphopenia

cerebellar atrophy

↑ risk of lymphoma and
leukemia

33
Q

What is the defect in hyper-IgM syndrome?

A 
Most commonly due to defective CD40L on Th cells
→ IgM only → class switching doesn't occur → can't make IgG, A, E

X-linked recessive

34
Q

Presentation of hyper-IgM syndrome?

Findings?

A

Severe pyogenic infections early in life; opportunistic infection with Pneumocystis, Cryptosporidium, CMV

Findings:

  • Normal or ↑ IgM
  • ↓↓ IgG, IgA, IgE
  • Failure to make germinal centers
35
Q

What is the defect in Wiskott-Aldrich syndrome (WAS)?

A

Mutation in WAS gene
leukocytes and platelets unable to reorganize actin cytoskeleton → defective antigen presentation

X-linked recessive

36
Q

Presentation of Wiskott-Aldrich syndrome?

Common findings?

A

Presentation:

  • Thrombocytopenia
  • Eczema
  • Recurrent (pyogenic) infections
  • ↑ risk of autoimmune disease and malignancy

Findings:

  • ↓ to normal IgG, IgM
  • ↑ IgE, IgA
  • Fewer and smaller platelets
37
Q

What is the defect in leukocyte adhesion deficiency (type 1)?

A

Defect in LFA-1 integrin (CD18) protein on phagocytes; impaired migration and chemotaxis

Autosomal recessive

*CD18 - common β chain of the leukocyte integrins
The 3 integrins that contain CD18:
LFA-1
MAC-1
gp150/95
38
Q

Presentation of leukocyte adhesion deficiency?

Findings?

A

Late separation (>30 days) of umbilical cord (Omphalitis)

No pus (d/t lack of adhesion-dependent leukocyte migration into sites of inflammation)

Gum infections (d/t antigen in mouth)

dysfunctional neutrophils

→ ↑ recurrent skin and mucosal bacterial infections

Findings
↑ neutrophils in blood but absence of neutrophils at
infection sites → impaired wound healing

39
Q

What are the 3 integrins that contain CD18?

Defect in which integrin causes LAD type 1?

A

LFA-1 - causes leukocyte adhesion deficiency LAD

MAC-1

gp150/95

40
Q

What is the defect in Chédiak-Higashi syndrome?

A

Nonsense mutation in lysosomal trafficking regulator gene (LYST) → Microtubule dysfunction → error in phagosome-lysosome vesicle fusion

Autosomal recessive

41
Q

Presentation of Chédiak-Higashi syndrome?

Findings?

A

Immunodeficient albino

PLAIN:
Progressive neurodegeneration,
Lymphohistiocytosis
Albinism (partial)
Infections recurrent pyogenic 
Neuropathy peripheral
Findings:
Giant granules in granulocytes and platelets
Pancytopenia
Mild coagulation defects
No NK activity
42
Q

What is the defect in chronic granulomatous disease?

A

Defect of NADPH oxidase → ↓ reactive oxygen species (eg, superoxide) and ↓ respiratory burst in neutrophils; X-linked form most common

43
Q

Presentation of chronic granulomatous disease?

Findings?

A

↑ susceptibility to catalase ⊕ organisms
Recurrent infections and granulomas

*catalase ⊕ bacteria & fungi destroy H202 → patient cannot produce .02, .OH, 1O2 & is left with only O2 independent lysosomal mechanism that is inadequate to control rampant infection

Findings:
DHR test: Abnormal DHR (dihydrorhodamine) (flow cytometry) test (↓green fluorescence)
Nitroblue tetrazolium dye reduction test (obsolete) fails
to turn blue

44
Q

Why is patient with chronic granulomatous disease not affected by catalase ⊖ organisms?

A

Because the waste product produced by the bacterium can be used as substrate for the alternative myeloperoxidase killing mechanism

*catalase ⊕ bacteria & fungi destroy H202 → patient cannot produce .02, .OH, 1O2 & is left with only O2 independent lysosomal mechanism that is inadequate to control rampant infection

*O2 independent killing
Lysosomes

O2 independent killing
Myeloperoxidase + H2O2 + HOCl

45
Q

What is the outcome of bacterial pathogen when there are ↓T cells?

A

Sepsis

46
Q

↓ B cell immunodeficiency leads to susceptibility of which type of bacterial pathogen?

A 
Encapsulated (Please SHINE my SKiS):
Pseudomonas aeruginosa
Streptococcus pneumoniae
Haemophilus
Influenzae type b,
Neisseria meningitidis,
Escherichia coli,
Salmonella,
Klebsiella pneumoniae,
group B Streptococcus
47
Q

Granulocyte deficiency leads to susceptibility of which type of bacterial pathogen?

A 
Some Bacteria Produce No Serious granules:
Staphylococcus,
Burkholderia cepacia,
Pseudomonas aeruginosa,
Nocardia,
Serratia
48
Q

Complement deficiency leads to susceptibility of which type of bacterial pathogen?

A

Encapsulated species with early complement deficiencies

Neisseria with late complement (C5–C9) deficiencies

49
Q

T cell immunodeficiency leads to susceptibility of which type of viruses?

A

CMV

EBV

JC virus (Human polyomavirus 2/ John Cunningham virus)

VZV

chronic infection with respiratory/GI viruses

50
Q

B cell deficiency leads to susceptibility of which type of viruses?

A

Enteroviral encephalitis

poliovirus

(live vaccine contraindicated)

51
Q

Which type of infections are associated with B & T cell deficiencies?

A

B-cell deficiencies → recurrent bacterial infections

T-cell deficiencies → fungal and viral infections

52
Q

T cell immunodeficiency leads to susceptibility of which type of fungi/parasites?

A

Candida (local), PCP, Cryptococcus

53
Q

B cell immunodeficiency leads to susceptibility of which type of fungi/parasites?

A

GI giardiasis (no IgA)

54
Q

Granulocyte deficiency leads to susceptibility of which type of fungi/parasites?

A

Candida (systemic), Aspergillus, Mucor

55
Q

What is the deficiency of Th17 cells due to STAT3 mutation which impairs recruitment of neutrophils to sites of infection and ↓ IFN-γ?

A

Jobs syndrome

Autosomal dominant hyper-IgE syndrome

Immunology - First Aid (15 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions