Brainscape's Knowledge GenomeTM

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


See full index

First Aid > Immune Deficiencies > Flashcards

Immune Deficiencies Flashcards

1
Q

What are the B cell disorders?

A

X-Linked (Bruton) agammaglobulinemia, Selective IgA deficiency, Common Variable immunodeficiency

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

What is the defect in X-linked agammaglobulinemia?

A

Defect in BTK, a tyrosine kinase gene (no B cell maturation). x-linked, therefore greater incidence in boys

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

What is the clinical presentation of X-linked agammaglobulinemia?

A

Recurrent bacterial and enteroviral infections after 6 months (due to decreased maternal IgG)

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

What are the findings in X-linked agammaglobulinemia?

A

Normal CD19+ B cell count, Decreased pro-B, decreased Ig of all classes. Absent/scanty lymph nodes and tonsils

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

Selective IgA deficiency defect?

A

Unknown. most common immunodeficiency

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

What is the presentation of IgA deficiency/

A

Majority Asymptomatic. Can cause Airway and Gi infections, Autoimmune disease, Atopy, Anaphylaxis to IgA containing products

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

Findings in selective IgA deficiency

A

IgA

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

What is the defect in common variable immunodeficiency

A

Defect in B-cell differentiation. Many causes

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

What is the presentation of common variable immunodeficiency?

A

Can be acquired in 20s or 30s; increased risk of autoimmune disease, brochiectasis, lymphoma, sinopulmonary infetions. Multiple joint pain, fatigue, weight loss

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

what are the findinds of common variable immunodeficiency?

A

decrease plasma cells, decrease immunoglobulins

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

What are the (4) T cell disorders?

A

1) Thymic aplasia (DiGeorge syndrome) 2) IL-12 receptor deficiency 3) Autosomal dominant hyper-IgE syndrome (Job Syndrome) 4) Chronic mucocutaneous candidiasis

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

Thymic aplasia (DiGeorge Syndrome) defect?

A

22q11 deletion; 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

Thymic aplasia (DiGeorge) presentation?

A

Tetany (hypocalcemia), recurrent viral/fungal infections (T-cell deficiency), coonotruncal abnormalities (i.e. tetralogy of Fallot, truncus arteriosus)

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

Thymic aplasia (DiGeorge) Findings

A

Decreased T cells, Decreased PTH, Decreased Ca++, Absent thymic shadow on CXR. 22q11 deletion by FISH.

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

IL-12 receptor deficiency

A

decreased Th1 response. Autosomal recessive

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

IL-12 receptor deficiency presentation

A

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

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

IL-12 receptor deficiency findings

A

decreased IFN-gamma

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

Autosomal dominant hyper-IgE syndrome (JOB syndrome) Defect?

A

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
19
Q

what is the clinical presentation in hyper-IgE syndrome (Job)

A

FATED: coarse Facies, cold (noninflamed) staphylococcal Abscesses, retained primary Teeth, increased IgE, dermatologic problems (eczema).

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

Autosomal dominant hyper-IgE syndrome (Job Syndrome)

A

increased IgE, decreased IFN-gamma

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

Chronic mucocutaneous candidiasis defect?

A

T-cell dysfunction. many causes

22
Q

presentation of chronic mucocutaneous candidiasis?

A

noninvasive candidia albican infections of skin and mucous membranes

23
Q

chronic mucocutaneous candidiasis presentation

A

absent in vitro T-cell proliferation in response to candida antigens. absent cutaneous reaction to candida antigens

24
Q

What are the B & T cell disorders?

A

SCID, Ataxia-telangiectasia, Hyper-IgM syndrome, Wiskott-Aldrich Syndrome

25
Q

What is the defect in SCID?

A

Several types including defective IL-2R gamma chain (most common, X-linked), adenosine deaminase deficiency (autosomal recessive

26
Q

What is the presentation of SCID?

A

Failure to thrive, chronic diarrhea, thrush. Recurrent viral, bacterial, fungal, and protozoal infections.

27
Q

What is the treatment of SCID?

A

Bone marrow transplant (no concern for rejection)

28
Q

What are the findings in SCID?

A

Decreased T cell receptor excision circles (TRECS). Absence of thymic shadow (CXR), germinal centers (lymph node biopsy), and T cells (flow cytometry). Absence of tonsils. absence of T and B cells.

29
Q

What is the defect in Ataxia Telangiectasia?

A

Defects in ATM gene - DNA double strand breaks - cell cycle arrest

30
Q

What is the clinical presentation in Ataxia Telangiectasia?

A

Triad: cerebellar defects (Atazia), spider Angiomas (telangiectasia), IgA deficiency

31
Q

What are the findings in Ataxia Telangiectasia?

A

Increased AFP, decreased IgA, IgG, IgE. Lymphopenia, cerebellar atrophy

32
Q

What is the defect in Hyper-IgM syndrome

A

Most commonly due to defective CD40L on Th cells = class switching defect

33
Q

What is the inheritance of Hyper-IgM syndrome?

A

X-linked recessive

34
Q

What is the presentation of Hyper-IgM syndrome?

A

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

35
Q

What are the findings of Hyper-IgM syndrome?

A

Increased IgM. Decreased IgG, IgA, IgE

36
Q

What is the defect in Wiskott-Aldrix Syndrome?

A

Mutation in WAS gene (X-linked recessive); T cells unable to reorganize actin cytoskeleton.

37
Q

What is the presentation of Wiskott-Aldrich Syndrome?

A

WATER: Wiskott-Aldrich: Thrombocytopenia purpura, Eczema, Recurrent infections. Increased Risk of autoimmune disease and malignancy

38
Q

What are the findings in Wiskott-Aldrich Syndrome?

A

Decreased to normal IgG, IgM. Increased IgE, IgA. Fewer and smaller platelets

39
Q

What are the immune diseases with phagocyte dysfunction?

A

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

40
Q

What defect is seen in Leukocyte adhesion deficiency (type I)?

A

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

41
Q

What is the presentation of Leukocyte adhesion deficiency?

A

Recurrent bacterial skin and mucosal infections, absent pus formation, impaired wound healing, delayed umbilical cord seperation (

42
Q

What are the findings in leukocyte adhesion deficiency?

A

1) increased neutrophils 2) absent of neutrophils at infection sites

43
Q

What is the defect in Chediak Higashi syndrome?

A

Defect in lysosomal trafficking regulator gene (LYST). Microtubule dysfunction in phagosome-lysosome fusion

44
Q

What is the presentation in Chediak Higashi syndrome?

A

Recurrent pyogenic infection by staph and strep, partial albinism, peripheral neuropathy, progressive neurodegeneration, infiltrative lymphohistiocytosis.

45
Q

What are the findings in Chediak Higashi syndrome?

A

giant granules in neutrophils and platelets. Pancytopenia. Mild coagulation defects.

46
Q

What is the defect in Chronic Granulomatoux Disease?

A

Defect in NADPH oxidase which leads to decrease in ROS (superoxide) and absent respiratory burst in neutrophils

47
Q

What is the inheritance of Chronic Granulomatoux disease?

A

X-Linked Recessive

48
Q

What is the inheritance of Chediak Higashi Syndrome?

A

Autosomal Recessive

49
Q

What is the presentation of CGD?

A

Increased susceptibility to catalase + organisms (PLACESS): Pseudomonas, Listeria, Aspergillus, Candida, E. Coli, S. Aures. Serratia

50
Q

What are the findings in CGD?

A

Abnormal dihydrorhodamine (flow cytometry) test. Nitroblue tetrazolium dye reduction test is negative (test out of favor).

First Aid (33 decks)

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