Immune Deficiency Diseases EC Flashcards Preview

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Flashcards in Immune Deficiency Diseases EC Deck (14):

Young boy with recurrent bacterial infections starting at 6mo. Decreased B cells, decreased Igs of all classes.

(Diagnosis and pathogenesis)

X-linked agammaglobinemia

Defect in BTK (a TK gene)
No B cell maturation (opsonization defect)


Child with recurrent sinopulmonary & GI infections, autoimmune disease. Normal IgG, IgM, decreased IgA. False positive beta-HCG due to presence of heterophil antibody.

(Diagnosis and possible serious complication)

Selective IgA deficiency (unknown path)
Most common primary immunodeficiency

Anaphylaxis to IgA-containing blood products


20-30 y/o, recurrent sinopulmonary infections. Increased risk of autoimmune disease, and lymphoma. Normal number of B cells, decreased plasma immunoglobulin

(Diagnosis and path)

CVID (common variable immunodeficiency)

Defect in B-cell maturation (many causes)


Tetany, recurrent viral/fungal infections, congenital heart and great vessel defects. Absent thymus and parathyroids, decreased T-cells, PTH, and Ca. Absent thymic shadow on CXR.

(diagnosis and path)

Thymic aplasia (DiGeorge Syndrome)

22q11 deletion syndrome
Failure of 3rd and 4th pharyngeal pouch development


Disseminated mycobacterial infections. Decreased IFN-gamma.

(Diagnosis and path)

IL-12 Receptor deficiency

Decreased TH-1 response (IL-12 induces TH1 differentiation)


Coarse facies, cold staph abscesses, two rows of teeth, increased IgE, dermatologic problems (eczema).

(Diagnosis and path)

Hyper IgE syndrome (Job's syndrome)


TH-1 cells fail to produce IFN-gamma
Neutrophil chemotaxis failure


Candida albicans infections of skin and mucous membranes.

(Diagnosis and path)

Chronic Mucocutaneous Candidiasis

T-Cell dysfunction


Failure to thrive, chronic diarrhea, Recurrent viral, bacterial, fungal and protozoal infections. Absence of thymic shadow, germinal centers, and B cells. Decreased TRECs (Tcell recombinant excision circles - circles of DNA created during TCR rearrangement).

(Diagnosis, path, and treatment)

SCID (severe combined immunodeficiency)

1) Defective IL-2 receptor (most common, X-linked)
2) Adenosine deaminase deficiency

Bone marrow transplant


Ataxia, spider angiomas (telangiectasia), IgA deficiency. Increased AFP, increased risk of cancer.

(Diagnosis and path)


Defects in ATM gene which codes for DNA repair enzymes


Severe pyogenic infections early in life. Increased IgM, very low IgG, IgA, and IgE.

(Diagnosis and path)

Hyper IgM syndrome

Defective CD40L which results in inability to class switch


Thrombocytopenic purpura, Infections, Eczema. Increased IgE and IgA. Decreased IgM.

(Diagnosis and path)

Wiskott-Aldrich Syndrome

WAS gene on X chromosome defect
T-cells unable to reorganize actin cytoskeleton


Recurrent bacterial infections, No pus formation, Delayed separation of umbilical cord. Neutrophilia.

(diagnosis and path)

Leukocyte Adhesion Deficiency (type I)

Defective LFA-1 integrin (CD18) protein on phagocytes


Recurrent pyogenic infections and staph and strep. Partial albinism. Peripheral neuropathy. Giant granules in neutrophils.

(diagnosis and path)

Chediak-Higashi syndrome

AR defect in LYST (lysosome tracking regulator)
Microtubule dysfunction in phagosome-lysosome fusion)


Increase susceptibility to catalase + organisms. Abnormal DHR flow cytometry test. (Nitroblue tetrazolium dye reduction test no longer preferred).

(diagnosis and path)

Chronic Granulomatous Disease

Lack of NADPH oxidase
Can't make superoxide
Absent respiratory burst in PMNs