Immune Deficiencies Flashcards by Meghan May

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

Wiskott-Aldrich

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

Thymic aplasia

(DiGeorge syndrome)

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How does myeloperoxidase (MPO) deficiency present?

increased candida albicans infections but mostly asymptomatic

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Presentation of Chronic mucocutaneous candidiasis?

Noninvasive Candida albicans infections of skin and mucous membranes.

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

Chronic granulomatous disease

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

Autosomal dominant hyper-IgE syndrome (Job syndrome)

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Presentation of Chédiak-Higashi
syndrome?

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

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decreased IgA with normal IgG, IgM levels.

Selective IgA deficiency

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How does Ataxia-telangiectasia present?

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

Poor smooth pursuit of eye movements**

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Presentation of Hyper-IgM syndrome?

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

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Defect in B-cell differentiation.
Many causes.

Common variable immunodeficiency

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

Chronic mucocutaneous candidiasis

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Presentation of Thymic aplasia (DiGeorge syndrome)?

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

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How does Wiskott-Aldrich present?

WATER:

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

Recurrent infections.
increased risk of autoimmune disease
and malignancy.

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Presentation of Chronic granulomatous disease?

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

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

Leukocyte adhesion deficiency (type 1)

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Most common 1° immunodeficiency.

Selective IgA deficiency

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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).

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

Hyper-IgM syndrome

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

Chédiak-Higashi

Presentation of X-linked (Bruton) agammaglobulinemia?

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

decreased IFN-γ.

IL-12 receptor deficiency

increased neutrophils.
Absence of neutrophils at
infection sites.

Leukocyte adhesion deficiency (type 1)

T-cell dysfunction. Many causes.

Chronic mucocutaneous candidiasis

decreased conversion of hydrogen peroxide to bleach

myeloperoxidase (MPO) deficiency

decreased Th1 response. Autosomal recessive.

IL-12 receptor deficiency

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

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

Presentation of Common variable immunodeficiency?

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

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

Wiskott-Aldrich

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

X-linked (Bruton) agammaglobulinemia

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

Severe combined immunodeficiency | (SCID)

decreased plasma cells and immunoglobulins.

Common variable immunodeficiency

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

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

Ataxia-telangiectasia

Presentation of IL-12 receptor deficiency?

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

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)

increased IgE, decreased IFN-γ.

Autosomal dominant hyper-IgE syndrome | (Job syndrome)

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

Chédiak-Higashi syndrome

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

X-linked (Bruton) agammaglobulinemia

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

Thymic aplasia (DiGeorge syndrome)

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

Ataxia-telangiectasia

Presentation of Selective IgA deficiency

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

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).

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

positive which is normal

increased IgM. decreased IgG, IgA, IgE.

Hyper-IgM syndrome