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USMLE immunology > immune deficiency syndromes > Flashcards

immune deficiency syndromes Flashcards

1
Q

What are the key findings in Thymic aplasia?

A

Decreased T cells, decreased PTH, decreased calcium; thymic shadow absent on CXR.

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2
Q

What is the defect in IL-12 receptor deficiency?

A

Decreased Th1 response; autosomal recessive inheritance.

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3
Q

What are the clinical presentations of IL-12 receptor deficiency?

A

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

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4
Q

What are the key findings in IL-12 receptor deficiency?

A

Decreased IFN-γ.

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5
Q

What is the defect in Autosomal dominant hyper-IgE syndrome (Job syndrome)?

A

Deficiency of Th17 cells due to STAT3 mutation, impairing neutrophil recruitment to infection sites.

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6
Q

What are the clinical presentations of Job syndrome?

A

Cold (noninflamed) staphylococcal abscesses,
retained baby teeth,
coarse facies, dermatologic problems (eczema),
bone fractures from minor trauma.

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7
Q

What are the key findings in Job syndrome?

A

Increased IgE, increased eosinophils decreased IFN gamma

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8
Q

What is the defect in Chronic mucocutaneous candidiasis?

A

T-cell dysfunction with impaired cell-mediated immunity against Candida species, often due to defects in AIRE.

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9
Q

What are the clinical presentations of Chronic mucocutaneous candidiasis?

A

Persistent noninvasive Candida albicans infections of the skin and mucous membranes.

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10
Q

What are the key findings in Chronic mucocutaneous candidiasis

A

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

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11
Q

What is the defect in X-linked (Bruton) agammaglobulinemia?

A

Defect in BTK, a tyrosine kinase gene, leading to no B-cell maturation; X-linked recessive.

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12
Q

What are the clinical presentations of X-linked (Bruton) agammaglobulinemia?

A

Recurrent bacterial and enteroviral infections especially giardia after 6 months of age (due to decreased maternal IgG).

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13
Q

What are the key findings in X-linked (Bruton) agammaglobulinemia?

A

Absent B cells ( no CD19 no CD20) in peripheral blood, decreased Ig of all classes, absent/scanty lymph nodes and tonsils, live vaccines contraindicated.

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14
Q

what is the treatment of x linked ammaglobulinemia?

A

IVIg

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15
Q

What is the cause of Selective IgA deficiency?

A

Unknown; it is the most common primary immunodeficiency.

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16
Q

What are the clinical presentations of Selective IgA deficiency?

A

Majority asymptomatic; can have airway and GI infections, autoimmune disease, atopy, and anaphylaxis to IgA-containing blood products.

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17
Q

What are the key findings in Selective IgA deficiency?

A

Decreased IgA with normal IgG and IgM levels; increased susceptibility to giardiasis.
often false positive pregnancy tests

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18
Q

What is the defect in Common variable immunodeficiency?

A

Defect in B-cell differentiation; the cause is unknown in most cases.

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19
Q

What are the clinical presentations of Common variable immunodeficiency?

A

Presents in childhood or after puberty with increased risk of autoimmune disease, bronchiectasis, lymphoma, and sinopulmonary infections.

20
Q

What are the key findings in Common variable immunodeficiency?

A

Decreased plasma cells and immunoglobulins.

21
Q

what is thee difference between CVID and x linked ammaglobulinemia ?

A

CVID is more likely to affect females - CVID more likely to affect males
CVID has a later onset

22
Q

What are the defects associated with Severe Combined Immunodeficiency (SCID)?

A

Several types including defective IL-2R gamma chain (most common, X-linked recessive), adenosine deaminase deficiency (autosomal recessive), RAG mutation causing VDJ recombination defect.

23
Q

What are the clinical presentations of SCID?

A

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

24
Q

What are the key findings in SCID?

A

Decreased T-cell receptor excision circles (TRECs), absence of thymic shadow on CXR, absence of germinal centers, and decreased T cells on flow cytometry

25
Q

how is newborn screening for SCID done ?

A

TRECS are measured

26
Q

What is the defect in Ataxia-Telangiectasia?

A

Defects in ATM gene leading to failure to detect DNA damage and halt cell cycle progression, resulting in accumulated mutations; autosomal recessive.

27
Q

What are the clinical presentations of Ataxia-Telangiectasia?

A

Cerebellar defects (ataxia), spider angiomas (telangiectasia), IgA deficiency; increased sensitivity to radiation.

28
Q

What are the key findings in Ataxia-Telangiectasia?

A

Increased AFP, decreased IgA, IgG, and IgE, lymphopenia, cerebellar atrophy.
all start with A
ataxia
derceased IgA
increased AFP
Angioma

29
Q

What is the cause of Hyper-IgM Syndrome?

A

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

30
Q

What are the clinical presentations of Hyper-IgM Syndrome?

A

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

31
Q

What are the key findings in Hyper-IgM Syndrome?

A

Normal or increased IgM, decreased IgG, IgA, IgE, and failure to make germinal centers.

32
Q

What is the defect in Wiskott-Aldrich Syndrome?

A

Mutation in WAS gene causing defective antigen presentation; X-linked recessive

33
Q

What are the clinical presentations of Wiskott-Aldrich Syndrome?

A

Thrombocytopenia small volume platelets, eczema, recurrent pyogenic infections, increased risk of autoimmune disease and malignancy.

34
Q

What are the key findings in Wiskott-Aldrich Syndrome?

A

Decreased to normal IgG, IgM; increased IgE, IgA; fewer and smaller platelets.

35
Q

What is the defect in Leukocyte Adhesion Deficiency (type 1)?

A

Autosomal recessive defect in LFA-1 integrin (CD18) on phagocytes leading to impaired migration and chemotaxis.
Late umbilical seperation
Absent pus
Dysfunctional neutrophils

35
Q

What are the clinical presentations of Leukocyte Adhesion Deficiency (type 1)?

A

Late separation of umbilical cord (>30 days), absent pus, dysfunctional neutrophils causing recurrent skin and mucosal bacterial infections.

36
Q

What are the key findings in Leukocyte Adhesion Deficiency (type 1)?

A

Increased neutrophils in blood but absence at infection sites.

36
Q

What is the defect in Chediak-Higashi Syndrome?

A

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

37
Q
A
38
Q

What are the clinical presentations of Chediak-Higashi Syndrome?

A

Progressive neurodegeneration, lymphohistiocytosis, albinism, recurrent pyogenic infections, peripheral neuropathy

39
Q

What are the key findings in Chediak-Higashi Syndrome?

A

Giant granules in granulocytes and platelets, pancytopenia, mild coagulation defects.

40
Q

What is the defect in Chronic Granulomatous Disease (CGD)?

A

Defect of NADPH oxidase, leading to decreased reactive oxygen species and absent respiratory burst in neutrophils; X-linked form is most common.

41
Q

What are the clinical presentations of CGD?

A

Increased susceptibility to catalase-positive organisms, recurrent infections, and granulomas.

42
Q

What are the key findings in CGD?

A

Abnormal dihydrorhodamine test (decreased green fluorescence), nitroblue tetrazolium dye reduction test fails to turn blue

43
Q

what are the organisms that cause CGD ?

A

staph aureus
pseudomoonas
aspergilluss
nocardia
servatia

44
Q

what infection is especially associated with hyper IgM syndrome ?

A

pneumocystitis jirovecii

45
Q

what is thee most common cause off MSMD ?

A

IL 12 deficiency

USMLE immunology (12 decks)

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