Immune Deficiencies Flashcards Preview

Step 1 Prep > Immune Deficiencies > Flashcards

Flashcards in Immune Deficiencies Deck (45):
1

decreased to normal IgG, IgM.
increased IgE, IgA.
Fewer and smaller platelets.

Wiskott-Aldrich

2

 T cells,  PTH,  Ca2+ all decreased 
Absent thymic shadow on CXR.
22q11 deletion detected by FISH.

Thymic aplasia
(DiGeorge syndrome)

2

How does myeloperoxidase (MPO) deficiency present?

increased candida albicans infections but mostly asymptomatic

3

Presentation of Chronic mucocutaneous candidiasis?

Noninvasive Candida albicans infections of skin and mucous membranes.

3

Abnormal dihydrorhodamine (flow cytometry) test.
Nitroblue tetrazolium dye reduction test is ⊝.

Chronic granulomatous disease

4

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

Autosomal dominant hyper-IgE syndrome (Job syndrome)

4

Presentation of Chédiak-Higashi
syndrome?

Recurrent pyogenic infections by staphylococci and streptococci, partial albinism, peripheral neuropathy, progressive neurodegeneration, infiltrative lymphohistiocytosis.

5

 decreased IgA with normal IgG, IgM levels.

Selective IgA deficiency

6

How does Ataxia-telangiectasia present?

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

Poor smooth pursuit of eye movements**

7

Presentation of Hyper-IgM syndrome?

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

9

Defect in B-cell differentiation.
Many causes.

Common variable immunodeficiency

9

Absent in vitro T-cell proliferation in response to Candida antigens.
Absent cutaneous reaction to Candida antigens.

Chronic mucocutaneous candidiasis

10

Presentation of Thymic aplasia (DiGeorge syndrome)?

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

11

How does Wiskott-Aldrich present?

WATER:

Wiskott-Aldrich:
Thrombocytopenic purpura,
Eczema (truncal),

Recurrent infections.
increased risk of autoimmune disease
and malignancy.

11

Presentation of Chronic granulomatous disease?

 susceptibility to catalase ⊕
organisms (Need PLACESS):
Nocardia, Pseudomonas,
Listeria, Aspergillus,
Candida,

12

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

Leukocyte adhesion deficiency (type 1)

13

Most common 1° immunodeficiency.

Selective IgA deficiency

14

Presentation of Severe combined immunodeficiency
(SCID)?

Failure to thrive, chronic diarrhea, thrush. Recurrent viral, bacterial, fungal, and protozoal infections.
Treatment: bone marrow transplant (no concern for rejection).

15

Most commonly due to
defective CD40L on Th cells
Ž class switching defect;
X-linked recessive.

Hyper-IgM syndrome

15

Giant granules in
granulocytes and platelets due to defect in microtubles causing defective movement across the cell
Pancytopenia.
Mild coagulation defects.

Chédiak-Higashi

16

Presentation of X-linked (Bruton) agammaglobulinemia?

Recurrent bacterial and enteroviral infections after 6 months ( maternal IgG).

17

decreased IFN-γ.

IL-12 receptor deficiency

17

increased neutrophils.
Absence of neutrophils at
infection sites.

Leukocyte adhesion deficiency (type 1)

19

T-cell dysfunction. Many causes.

Chronic mucocutaneous candidiasis

20

decreased conversion of hydrogen peroxide to bleach

myeloperoxidase (MPO) deficiency 

22

decreased Th1 response. Autosomal recessive.

IL-12 receptor deficiency

22

Presentation of Autosomal dominant hyper-IgE syndrome (Job syndrome)?

FATED:

coarse Facies,

cold (noninflamed) staphylococcal Abscesses,

retained primary Teeth, 

IgE,

Dermatologic problems (eczema).

23

Presentation of Common variable immunodeficiency?

Can be acquired in 20s–30s; risk of autoimmune disease, bronchiectasis, lymphoma, sinopulmonary infections.

24

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

Wiskott-Aldrich

26

Absent B cells in peripheral blood,  Ig of all classes.
Absent/scanty lymph nodes and tonsils.

X-linked (Bruton) agammaglobulinemia

27

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

Severe combined immunodeficiency
(SCID)

28

 decreased plasma cells and immunoglobulins.

Common variable immunodeficiency

29

Defect of NADPH oxidase

increased reactive oxygen species (e.g., superoxide)
and  decreased respiratory burst in neutrophils; X-linked recessive most common.

Chronic granulomatous disease

31

Defects in ATM gene Ž-> failure to repair DNA double strand breaks ->Ž cell cycle arrest.

Ataxia-telangiectasia

32

Presentation of IL-12 receptor deficiency?

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

34

decreased T-cell receptor excision circles (TRECs).
Absence of thymic shadow (CXR), germinal centers (lymph node biopsy), and T cells (flow cytometry).

Severe combined immunodeficiency
(SCID)

36

increased IgE, decreased IFN-γ.

Autosomal dominant hyper-IgE syndrome
(Job syndrome)

37

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

Chédiak-Higashi
syndrome

38

Defect in BTK, a tyrosine kinase geneŽ no B cell maturation. X-linked recessive.

X-linked (Bruton) agammaglobulinemia

40

22q11 deletion; failure to develop 3rd and 4th pharyngeal pouches Ž absent thymus and parathyroids.

Thymic aplasia (DiGeorge syndrome)

41

increased AFP.
decreased IgA, IgG, and IgE.
Lymphopenia, cerebellar atrophy.

Ataxia-telangiectasia

42

Presentation of Selective IgA deficiency

Majority Asymptomatic.
Can see Airway and GI infections, Autoimmune disease, Atopy, Anaphylaxis to IgA-containing products.

43

Presentation of Leukocyte adhesion deficiency (type 1)?

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

44

results of nitroblue tetrazolium dye reduction test in myeloperoxidase (MPO) deficiency ?

positive which is normal

45

increased IgM.
decreased IgG, IgA, IgE.

Hyper-IgM syndrome