Immunodeficiencies Flashcards
B-cell disorders?
Bruton’s, IgA deficiency, common variable immunodeficiency (CVID)
T-cell disorders?
DiGeorge syndrome, IL-12 receptor deficiency, hyper-IgE (Job’s syndrome), chronic mucocutaneous candidiasis
B and T-cell disorders?
SCID, ataxia telangiectasia, hyper-IgM, Wiskott-Aldrich
Phagocyte disorders?
Leukocyte adhesion deficiency (type 1), Chediak-Higashi, chronic granulomatous disease
Defect in BTK (a tyrosine kinase gene)?
Bruton’s
No B-cell maturation but normal pro-B cells?
Bruton’s
S/S of Bruton’s?
Recurrent bacterial infections after 6 months (low maternal IgG) as a result of opsonization defect
Deficient in Bruton’s?
Low B-cells, low Igs of all types
Most common primary immunodeficiency?
IgA deficiency
False positive test seen in IgA deficiency?
B-hCG–due to presence of heterophile Ab
Sinupulmonary infection, GI infection?
IgA deficiency?
Anaphylaxis after blood transufsion?
IgA deficiency–with blood products containing IgA
Normal number of B-cells but low plasma cells and Igs?
CVID
S/S of CVID?
Acquired in 20s-30s, increased risk for autoimmune dz, lymphoma, sinupulmonary infections
22q11 deletion syndrome?
DiGeorge
Which branchial pouches do not develop in DiGeorge?
3rd and 4th
Labs seen in DiGeorge?
Low T-cells, low PTH, hypocalcemia, absent thymic shadow on CXR
S/S of DiGeorge?
Tetany, recurrent viral/fungal infections, congenital heart and great vessel defects
What has a diminished Th1 response?
IL-12 receptor deficiency
S/S of IL-12R deficiency?
Disseminated mycobacterial infections
Labs in IL-12R deficiency?
Low IFN-g
Most common cause of SCID?
Defective IL-2 receptor (X-linked)
Causes of SCID?
IL-2R defect, ADA deficiency
S/S of SCID?
Recurrent infections of ALL types, absence of thymic shadow, germinal centers, and B-cells (peripheral blood smear)
How do you tx SCID?
Bone marrow transplant (no allograft rejection)
What are the lab findings for SCID?
Low T-cell recombinant excision circles (TRECs), absence of T-cells (flow cytometry)
What is the defect in ataxia telangiectasia?
ATM gene–codes for DNA repair EZs
What is the triad of sxs in ataxia telangiectasia?
Cerebellar defects (ataxia), spider angiomas (telangiectasia), IgA deficiency
What are the labs in ataxia telangiectasia?
High a-fetoprotein
CD40L defect on Th cells?
Hyper-IgM–inability to class switch
S/S of hyper IgM?
Severe pyogenic infections early in life
Defect in Wiskott Aldrich?
WAS gene on X Chr–leading to T-cells unable to reorganize actin cytoskeleton
What is the triad of sxs in Wiskott Aldrich?
TTP, Infections, Eczema (TIE)
What are the labs in Wiskott Aldrich?
High IgE, IgA; low IgM; thrombocytopenia
Defect in LFA-1 integrin (CD18) protein?
Leukocyte adhesion deficiency
S/S of leukocyte adhesion deficiency?
Recurrent bacterial infections, absent pus formation, delayed separation of umbilical cord
Defect in lysosomal trafficking regulator gene (LYST)?
Chediak Higashi–microtubule dysfunction in phagolysosome fusion
S/S of Chediak Higashi?
Recurrent pyogenic infections by staph and strep, partial albinism, peripheral neuropathy
Giant granules in neutrophils?
Chediak Higashi
Lack of NADPH oxidase?
CGD–low ROIs and absent respiratory burst in neutrophils
S/S of CGD?
Increased susceptibility to catalase positive organisms (staph, E. coli, Aspergillus)
Dx for CGD?
Negative nitroblue tetrazolium dye reduction test, abnormal dihydrorhodamine (DHR) flow cytometry test
Tx for CGD?
IFN-g
Defect in Jobs syndrome?
Th1 cells fail to produce IFN-g causing inability of neutrophils to respond to chemotactic stimuli
S/S of Job’s syndrome?
Coarse Facies, cold (noninflamed) staph Abscesses, retained primary Teeth, high IgE, Dermatologic problems (eczema) (FATED)
Candida infections of skin and mucous membranes?
Chronic mucocutaneous candidiasis
