Immune Deficiency Diseases EC Flashcards
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)
“FATED”
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)
Ataxia-Telangiectasia
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
