Brainscape's Knowledge GenomeTM

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


See full index

Immunology- First Aid > Immune deficiencies > Flashcards

Immune deficiencies Flashcards

1
Q

what defect causes X-linked (Bruton) agammaglobulinemia

A

defect in BTK ( a tyrosine kinase)

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

how do patients with Bruton agammaglobulinemia present clinically

A

recurrent bacterial infections and enteroviral infections after 6 months of age (after maternal IgG disappears), absent or underdeveloped lymph nodes and tonsils

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

what are the significant lab findings for Bruton agammaglobulinemia

A

absent CD 19+ B cell count, low Ig of all classes, low pro-B

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

what symptoms do the majority of patients with selective IgA deficiency have

A

trick question! most patients are asymptomatic;
in some patients you may see Airway and GI infections, Autoimmune disease, Atopy and Anaphylaxis to IgA containing products

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

what lab findings would you see in patients with selective IgA deficiency

A

IgA < 7 mg/dL with normal IgG and IgM

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

what is the causal defect in common variable immunodeficiency

A

defect in B-cell maturation (due to many causes)

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

when do patients tend to present with common variable immunodeficiency

A

20s-30s

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

what symptoms are seen with common variable immunodeficiency

A

increased risk of autoimmune disease, bronchiectasis, lymphoma, sinopulmonary infections

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

what are the lab findings for common variable immunodeficiency

A

decreased plasma cells, decreased immunoglobulins

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

name three B-cell immune deficiencies

A

Bruton’s agammagobulinemia
selective IgA deficiency
common variable immunodeficiency

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

name four T-cell immune deficiencies

A 
Thymic aplasia (DiGeroge syndrome)
IL-12 receptor deficiency
autosomal dominant hyper IgE syndrome (Job syndrome)
Chronic mucocutaneous candidiasis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

what chromosal deletion results in DiGeorge syndrome and what pharyngeal pouches fail as a result

A

22q11;

3rd and 4th pharyngeal pouches fail to develop as a result

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

in DiGeorge syndrome what anatomical structures are absent as a result of defective 3rd and 4th pharyngeal pouches

A

thymus and parathyroids

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

what is the clinical presentation of DiGeorge syndrome

A

tetany (hypocalcemia), recurrent viral/fungal infections due to T-cell deficiency, conotruncal abnormalities like tetralogy of Fallot and truncus arteriosus

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

what are the relevant lab findings for DiGeorge syndrome

A

low PTH, low Ca, low T cell count

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

what is the inheritance pattern of IL-12 receptor deficiency

A

autosomal recessive

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

what defect is associated with IL-12 receptor deficiency

A

low Th1 response

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

what is the clinical presentation of IL-12 receptor deficiency

A

disseminated mycobacterial and fungal infections; may present after BCG administration

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

what cytokine is low in IL-12 receptor deficiency

A

IFN-gamma

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

what defect is associated with Job syndrome (autosomal dominant hyper IgE syndrome)

A

STAT3 mutation causes deficiency of Th17 leading to impaired recruitment of neutrophils to sites of infection

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

what is the clinical presentation of Job syndrome

A

FATED: coarse Facies, cold (non-inflamed) staphylococcal Abscesses, retained primary Teeth, increased IgE, Dermatological problems like eczema

22
Q

what are the relevant lab findings in Job syndrome

A

high IgE, low IFN-gamma

23
Q

what is the presentation of chronic mucocutaneous candidiasis

A

noninvasive C. albicans infections of skin and mucous membranes

24
Q

why can’t the body respond to candidal infection in chronic mucocutaneous candidiasis

A

T-cell dysfunction (many causes) leading to absent T-cell response in vitro in response to C. albicans and absent cutaneous reaction to Candida antigens

25
Q

name two common causes of SCID

A

defective IL-2 receptor gamma chain (X-linked, most common)

adenosine deaminase deficiency (autosomal recessive)

26
Q

what is the clinical presentation of sCID

A

failure to thrive; chronic diarrhea; thrush; recurrent viral, bacterial, fungal and protozoal infections

27
Q

how do you treat SCID

A

bone marrow transplant (no concern for rejection)

28
Q

low T-cell receptor excision circles (TREC’s) are associated with what disease

A

SCID

29
Q

what causes ataxia-telangiectasia

A

defects in ATM gene leads to DNA double strand breaks leading to cell cycle arrest

30
Q

what is the classic triad of ataxia telangiectasia

A
  1. cerebellar defects
  2. spider angiomas
  3. IgA deficiency
31
Q

what are the significant lab findings for ataxia telangiectasia

A

high AFP, low IgA, low IgE, low IgE, lyphopenia and cerebellar atrophy

32
Q

what causes hyper IgM syndrome

A

most commonly due to defective CD40L on Th cells => inhibited class switching

33
Q

what is the inheritance pattern of hyper IgM syndrome

A

X-linked recessive

34
Q

what is the clinical presentation of hyper IgM syndrome

A

severe pyogenic infections early in life, opportunistic infection with pneumocystis, cryptosporidium and CMV

35
Q

what are the significant lab findings for hyper IgM syndrome

A

high IgM,

low IgE, low IgG, low IgA

36
Q

what causes Wiskott-Aldrich syndrome

A

mutation in WAS gene –> T cells are unable to reorganize their actin cytoskeleton

37
Q

what is the inheritance pattern of Wiskott-Aldrich syndrome

A

X-linked recessive

38
Q

what is the clinical presentation of Wiskot-Aldrich syndrome

A

WATER: Wiskott-Aldrich, Thrombocytopenic purpura, Eczema, Recurrent infections as well as increased risk of autoimmune disease and malignancy

39
Q

what are the significant lab findings for Wiskott-Aldrich syndrome

A

low to normal IgG and IgM
high IgE and IgA
fewer and smaller platelets

40
Q

name 3 immune deficiencies involving phagocyte dysfunction

A

Leukocyte adhesion deficiency (type I),
Chediak-Higashi syndrome,
Chronic granulomatous disease

41
Q

what causes leukocyte adhesion deficiency

A

defect in LFA-1 integrin (CD18) protein on phagocytes leads to impaired migration and chemotaxis

42
Q

what is the inheritance pattern of leukocyte adhesion deficiency (type I)

A

autosomal recessive

43
Q

what is the clinical presentation of leukocyte adhesion deficiency (type I)

A

recurrent bacterial skin and mucosal infections, absent pus formation, impaired wound healing, delayed separation of umbilical cord (>30 days)

44
Q

what happens to neutrophils in leukocyte adhesion deficiency (type I)

A

increased neutrophil count, but decreased neutrophils at site of infection

45
Q

what causes Chediak-Higashi syndrome

A

defect in lysosomal trafficking regulator gene (LYST) leading to microtubule dysfunction in phagoome-lysosome fusion

46
Q

what is the inheritance pattern of Chediak-Higashi syndrome

A

autosomal recessive

47
Q

what is the clinical presentation of Chediak-Higashi syndrome

A

recurrent pyogenic infections by staph and strep, partial albinism, peripheral neuropathy, progressive neurodegeneration, infiltrative lyphohistiocytosis

48
Q

what are the significant lab findings for Chediak-Higashi syndrome

A

giant granules in neutrophils and platelets, pancytopenia, mild coagulation defects

49
Q

what causes chronic granulomatous disease

A

defect of NADPH oxidase leading to decreased reactive oxygen species and absent respiratory burst in neutrophils

50
Q

what is the inheritance pattern of Chronic granulomatous disease

A

X-linked recessive

51
Q

what is the clinical presentation of chronic granulomatous disease

A

increased susceptibility to catalase positive organisms (PLACESS= pseudomonas, listeria, aspergillus, candida, E. coli, S. aureus, Serratia)

52
Q

how can diagnosis of chronic granulomatous disease be made in the laboratory

A

abnormal dihydrorhodamine (flow cytometry) test

negative nitroblue tetrazolium dye reduction test (not really done anymore)

Immunology- First Aid (5 decks)

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