Brainscape's Knowledge GenomeTM

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


See full index

Immunology > Immune deficiencies > Flashcards

Immune deficiencies Flashcards

1
Q

Defect in X-linked (Bruton) agammaglobulinemia

A

BTK, a tyrosine kinase gene –> NO B CELL maturation

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

Selective IgA deficiency presentation

A 
A's
Most are asymptomatic
Airway infections: Sinus, lung
Autoimmune disease
Atopy
Anaphylaxis to IgA containing products
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Thymic aplasia (DiGeorge) defect

A

22q11 deletion –> failure to develop 3rd and 4th pharyngeal pouches –> absence of thymus and parathyroid glands

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

IL-12 receptor deficiency presentation

A

Mycobacterial infections. Decreased Th1 response and decreased IFN-g

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

Chronic mucocutaneous candidiasis defect & presentation

A

T-cell dysfunction -> noninvasive candida albicans infections of skin and mucous membranes

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

Hyper IgM

A

Defective CD40L on Th cells means can’t switch Ig classes

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

IL-12 deficiency

A

Increased susceptibility to mycobacteria infections

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

SCID presentation

A

FTT
Chronic diarrhea
Thrush
Recurrent viral, bacterial, fungal, and protozoal infections

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

SCID severe recurrent infections

A
  1. Chronic mucocutaneous candidiasis
  2. Fatal or recurrent RSV, VZV, HSV, measles, flu, parainfluenza
  3. PCP pneumonia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

No thymic shadow

A
  1. SCID

2. DiGeorge

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Wiskott-Aldrich presentation

A 
WAITER:
Wiskott-Aldrich
Immunodeficiency
Thrombocytopenia and purpura
Eczema on trunk
Recurrent pyogenic infections
X-linked
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are the x-linked immunodeficiencies

A 
"WACH"
Wiskott aldrich
Bruton agammaglobulinemia
\+/- Chronic granulomatous disease
\+/-Hyper-IgM syndrome
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Ig levels in Wiskott-Aldrich

A

Low IgM, High IgA

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

Ataxia-Telangectasia defect

A

IgA deficiency + Decreased T cells 2/2 defect in ATM gene –> DNA ds breaks –> cell cycle arrest

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

Ataxia-Telangectasia presentation

A

Cerebellar ataxia
Poor smooth pursuit of moving target with eyes
Radiation sensitivity

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

Chronic granulomatous disease defect

A

Lack of NADPH oxidase activity –> Impotent phagocytes

17
Q

Presentation of chronic granulomatous disease

A 
Susceptible to organisms with catalase (PLACESS)
Pseudomonas
Listeria
Aspergillus
Candida
E Coli
S. aureus
Serratia
18
Q

How is CGD diagnosed

A 
Nitroblue tetrazolium (NBT) dye test - no blue-black oxidation
Or, abnormal dihydrorhodamine flow cytometry test
19
Q

Defect in Chediak-Higashi disease

A

Defective LYST gene (lysosomal transport) such that lysosomes of phagocytes are ineffective.
–> See giant cytoplasmic granules in neutrophils and plts.

20
Q

Chediak-Higashi presentation triad

A
  1. Partialbinism (partial albinism!)
  2. Recurrent respiratory tract and skin infections
  3. Neurologic d/o’s: Peripheral neuropathy, neurodegeneration, seizures
21
Q

Hyper-IgE syndrome (Job syndrome) presentation

A

FATED:
coarse Facies: broad nose, frontal bossing
cold noninflamed staphylococcal Abscesses
retained primary Teeth -> 2 rows of teeth
high IgE, eosinophils
Dermatologic probs (Eczema)

22
Q

Hyper-IgE syndrome (Job syndrome) defect

A

Deficient in IFN-g = impaired neutrophil chemotaxis, so neutrophils can’t get to where they need

23
Q

Leukocyte adhesion deficiency syndrome defect

A

Abnormal integrins –> inability of phagocytes to exit circulation and integrate into interstitium.

24
Q

Leukocyte adhesion deficiency syndrome Presentation

A

Delayed separation of umbilical cord

Impared wound healing

25
Q

Thymic aplasia (DiGeorge) presentation

A

T cell deficiency, Low PTH and therefore Low Calcium

  • Tetany
  • Recurrent viral/fungal infections
  • Tetralogy of fallot/truncus arteriosis
26
Q

Lab and imaging findings in DiGeorge

A

Low serum PTH and calcium

Absent thymic shadow in XR

27
Q

X-linked (Bruton) agammaglobulinemia Presentation

A

Recurrent bacterial and enteroviral infections after 6 months 2/2 decreased maternal IgG.

28
Q

X-linked (Bruton) agammaglobulinemia lab findings

A

Normal CD19+ B cell count
Low Ig of all classes
Absent/scanty lymph nodes and tonsils

29
Q

Eczema, recurrent cold abscesses, high serum IgE

A

Hyperimmunoglobin E (Job syndrome)

30
Q

Large lysosomal vesicles in phagocytes

A

Chediak-Higashi disease

Immunology (5 decks)

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