Immunodeficiencies Flashcards
what is the defect in Bruton agammaglobulinemia?
BTK - tyrosine kinase - no B cell maturation
what is the defect in CVID?
B cell differentiation
what is the defect in digeorge?
22q11 deletion - failure to develop 3rd and 4th pharyngeal pouches
what is the defect in IL-12 receptor deficiency?
low Th1 response since IL-12 normally induces T cells to develop into Th1 cells
what is the defect in hyper IgE sydrome?
deficiency of Th17 cells due to STAT3 mutation - impaired recruitment of neutrophils to site of infection
what are the possible defects in SCID?
- defective IL-2R gamma chain
- ADA deficiency
what is the defect in ataxia telangiectasia?
defect in ATM gene - failure to repair DNA double stranded breaks - cell cycle arrest
what is the defect in hyper IgM syndrome?
defective CD40L on Th cells - defect in class switching
what is the defect in wiskott aldrich syndrome?
mutation in WAS gene - T cells unable to reorganize actin cytoskeleton
what is the defect in luekocyte adhesion deficiency?
defect on LFA-1 integrin (CD18) protein on phagocytes - impaired migration and chemotaxis
what is the defect in chediak higashi syndrome?
defect in lysosomal trafficking regulator gene (LYST) - microtubule dysfunction in phagosome-lysosome fusion
what is the defect in CGD?
defect of NADPH oxidase - low ROS and respiratory burst in neutrophils
what is the inheritance of Bruton agamma?
XR
what is the inheritance of IL-12 receptor deficiency?
AR
what is the inheritance of hyper IgE?
AD
what is the inheritance of SCID? (2 types)
- defective IL-2R gamma chain (X linked)
- ADA deficiency (AR)
what is the inheritance of hyper IgM?
XR
what is the inheritance of wiskott aldrich?
XR
what is the inheritance of leukocyte adhesion deficiency?
AR
what is the inheritance of chediak higashi syndrome?
AR
what is the inheritance of CGD?
XR
presentation:
- recurrent bacterial and enteroviral infections after 6 months
bruton agamma
presentation:
- airway and GI infections
- autoimmune diseases
- atopy
- anaphylaxis
selective IgA
presentation:
- presents later in life (20s and 30s)
- increased risk of autoimmune disease
- bronchiectasis
- lymphoma
- sinopulmonary infections
CVID
presentation:
- tetany
- hypocalcemia
- recurrent viral / fungal infections
- conotruncal abnormalities (tet fallot, truncus)
digeorge
presentation:
- disseminated mycobacterial and fungal infections
- may occur after BCG vaccine
IL-12 deficiency
presentation:
- coarse facies
- noninflamed staph abscesses
- retained primary teeth
- derm problems (eczema)
hyper IgE syndrome
presentation:
noninvasive candida albicans infections of skin and mucous membranes
chronic mucocutaneous candidiasis
presentation:
- failure to thrive
- chronic diarrhea
- thrush
- recurrent bacterial, fungal, protozoal infections
SCID
presentation:
- cerebellar defects
- spider angiomas
- IgA deficiency
ataxia telangiectasia
presentation:
- severe pyogenic infections early in life
- opportunistic infection with pneumocystis, crypto, CMV
hyper IgM
presentation:
- thrombocytopenia
- eczema
- recurrent infections
wiskott aldrich
presentation:
- recurrent bacterial skin and mucosal infections
- absent pus formation
- impaired wound healing
- delayed separation of umbilical cord
leukocyte adhesion deficiency
presentation:
- recurrent pyogenic infections by staph and strep
- partial albinism
- peripheral neuropathy
- progressive neurodegeneration
- infiltrative lymphohistiocytosis
chediak higashi
presentation:
- increased susceptibility to catalase positive organisms
CGD
lab findings:
- absent B cells in peripheral blood
- low Ig (all classes)
- absent / scant lymph nodes and tonsils
bruton agamma
lab findings:
- low IgA
- normal IgG, IgM
selective IgA
lab findings:
- low plasma cells
- low Igs
- normal number of circulating B cells
CVID
lab findings:
- low T cells
- low PTH
- low calcium
- absent thymic shadow on CXR
digeorge
lab findings:
- low IFNy
IL-12 receptor deficiency
lab findings:
- low IFNy
- elevated IgE
hyper IgE
lab findings:
- absent in vitro T cell proliferation in response to candida antigens
- absent cutaneous reaction to candida antigens
chronic mucocutaneous candidiasis
lab findings:
- low T cell receptor excision circles (TRECs)
- absence of thymic shadow on CXR
- absence of germinal centers
- absence of T cells
SCID
lab findings:
- elevated AFP
- low IgA
- low IgG
- low IgE
- lymphopenia
ataxia telangiectasia
lab findings:
- elevated IgM
- very low IgG
- very low IgA
- very low IgE
hyper IgM
lab findings:
- low-to-normal IgG
- low-to-normal IgM
- elevated IgE
- elevated IgA
- fewer and smaller platelets
wiskott aldrich
lab findings:
- increased neutrophils
- absence of neutrophils at infection site
leukocyte adhesion deficiency
lab findings:
- giant granules in granulocytes and platelets
- pancytopenia
- mild coagulation defects
chediak higashi
lab findings:
- abnormal dihydrorhodamine (flow cytometry) test
- negative NBT test
CGD
