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Step 1 Prep > Immune Deficiencies > Flashcards

Immune Deficiencies Flashcards

1
Q

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

A

Wiskott-Aldrich

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2
Q

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

A

Thymic aplasia

(DiGeorge syndrome)

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2
Q

How does myeloperoxidase (MPO) deficiency present?

A

increased candida albicans infections but mostly asymptomatic

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3
Q

Presentation of Chronic mucocutaneous candidiasis?

A

Noninvasive Candida albicans infections of skin and mucous membranes.

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3
Q 
Abnormal dihydrorhodamine (flow cytometry) test.
Nitroblue tetrazolium dye reduction test is ⊝.
A

Chronic granulomatous disease

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4
Q

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

A

Autosomal dominant hyper-IgE syndrome (Job syndrome)

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4
Q

Presentation of Chédiak-Higashi
syndrome?

A

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

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5
Q

 decreased IgA with normal IgG, IgM levels.

A

Selective IgA deficiency

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6
Q

How does Ataxia-telangiectasia present?

A

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

Poor smooth pursuit of eye movements**

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7
Q

Presentation of Hyper-IgM syndrome?

A

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

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9
Q

Defect in B-cell differentiation.
Many causes.

A

Common variable immunodeficiency

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9
Q

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

A

Chronic mucocutaneous candidiasis

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10
Q

Presentation of Thymic aplasia (DiGeorge syndrome)?

A

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

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11
Q

How does Wiskott-Aldrich present?

A

WATER:

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

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

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11
Q

Presentation of Chronic granulomatous disease?

A

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

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12
Q

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

A

Leukocyte adhesion deficiency (type 1)

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13
Q

Most common 1° immunodeficiency.

A

Selective IgA deficiency

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14
Q

Presentation of Severe combined immunodeficiency
(SCID)?

A

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

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15
Q

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

A

Hyper-IgM syndrome

15
Q

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

A

Chédiak-Higashi

16
Q

Presentation of X-linked (Bruton) agammaglobulinemia?

A

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

17
Q

decreased IFN-γ.

A

IL-12 receptor deficiency

17
Q

increased neutrophils.
Absence of neutrophils at
infection sites.

A

Leukocyte adhesion deficiency (type 1)

19
Q

T-cell dysfunction. Many causes.

A

Chronic mucocutaneous candidiasis

20
Q

decreased conversion of hydrogen peroxide to bleach

A

myeloperoxidase (MPO) deficiency

22
Q

decreased Th1 response. Autosomal recessive.

A

IL-12 receptor deficiency

22
Q

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

A

FATED:

coarse Facies,

cold (noninflamed) staphylococcal Abscesses,

retained primary Teeth, 

IgE,

Dermatologic problems (eczema).

23
Q

Presentation of Common variable immunodeficiency?

A

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

24
Q

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

A

Wiskott-Aldrich

26
Q

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

A

X-linked (Bruton) agammaglobulinemia

27
Q

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

A

Severe combined immunodeficiency

(SCID)

28
Q

decreased plasma cells and immunoglobulins.

A

Common variable immunodeficiency

29
Q

Defect of NADPH oxidase

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

A

Chronic granulomatous disease

31
Q

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

A

Ataxia-telangiectasia

32
Q

Presentation of IL-12 receptor deficiency?

A

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

34
Q

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

A

Severe combined immunodeficiency

(SCID)

36
Q

increased IgE, decreased IFN-γ.

A

Autosomal dominant hyper-IgE syndrome

(Job syndrome)

37
Q

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

A

Chédiak-Higashi
syndrome

38
Q

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

A

X-linked (Bruton) agammaglobulinemia

40
Q

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

A

Thymic aplasia (DiGeorge syndrome)

41
Q

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

A

Ataxia-telangiectasia

42
Q

Presentation of Selective IgA deficiency

A

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

43
Q

Presentation of Leukocyte adhesion deficiency (type 1)?

A

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

44
Q

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

A

positive which is normal

45
Q

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

A

Hyper-IgM syndrome

Step 1 Prep (28 decks)

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