Immunodeficiencies Flashcards
(26 cards)
Th1 cells fail to produce IFN-gamma –> inability of neutrophils to respond to chemotactic stimuli
Hyper-IgE Syndrome (Job’s Syndrome)
- Finding is increased IgE
Defective IL-2 (most common, X-linked), or Adenosine Deaminase Deficiency leads to decreased T-cell recombinant excision circles (TRECs), absence of thymic shadow/germinal centers/T-cells
Severed Combined Immunodeficiency (SCID)
Findings include decreased IgA with normal IgG, IgM, and IgG vaccine titers with False-positive Beta-HCG due to presence of heterophile antibody
Selectie IgA Deficiency
Defect in LFA-1 Integrin (CD18) protein on phagocytes found with neutrophilia
Leukocyte adhesion deficiency (type I)
Most Common Primary Immunodeficiency that is typically asymptomatic but can have Anaphylaxis to IgA-containing blood products
Selective IgA Deficiency
Defect in B-cell Maturation that can be acquired in 20s-30s with increased risk of autoimmune disease, lymphoma, and sinopulmonary infections
Common Variable Immunodeficiency (CVID)
Findings include absent thymic shadow on CXR, decreased T cells, decreased PTH, and decreased Ca 2+
Thymic Aplasia (DiGeorge Syndrome)
Decreased Th1 response present with disseminated mycobacterial infections and decreased IFN-gamma
IL-12 Receptor Deficiency
Presentation includes FATED: coarse Facies, cold (non inflamed), staphylococcal Abscesses, retained primary Teeth, increased IgE, Dermatologic problems (eczema)
Hyper-IgE Syndrome (Job’s Syndrome)
T-cell Dysfunction that presents with Candida Albicans infections of skin and mucous membranes
Chronic Mucocutaneous Candidiasis
Presents with Failure to Thrive, chronic diarrhea (diaper rash), thrush, recurrent viral/bacterial/fungal infection, absence of thymic shadow/germinal centers/B cells
Severe Combined Immunodeficiency (SCID)
Findings are Normal Pro-B, Decreased Maturation, Decreased # of B cells, Decreased Immunoglobulins of all classes
- X-linked (Bruton’s) Agammaglobulinemia
Presents with Recurrent pyogenic infections by staph and strep; partial albinism, and peripheral neuropathy
Chediak-Higashi Syndrome
Defects in the ATM gene which codes for DNA repair enzymes and increases AFP
Ataxia-Telangiectasia
- X-linked recessive Defect in BTK, a tyrosine kinase gene that presents with recurrent bacterial, enterovirus (polio and coxsackievirus) and Giardia Lamblia infections after six months.
- X-Linked (Bruton’s) Agammaglobulinemia
- leads to NO B cell maturation
Presents with Cerebellar Defects (ataxia), spider angiomas (telangiectasia), and IgA deficiency
Ataxia-Telangiectasia
CD40 Ligand Defect on helper T cells –> inability to class switch
Hyper-IgM Syndrome
X-linked defect in WAS gene on X chromosome –> T cells unable to reorganize actin cytoskeleton
Wiskott-Aldrich Syndrome
Presents with Thombocytopenic Purpura, Infections, Eczema
Wiskott-Aldrich Syndrome
Presents with recurrent bacterial infections, absent pus formation, and delayed umbilical cord separation
Leukocyte adhesion deficiency (type I)
Lack of NADPH oxidase –> decreased ROS (superoxide) and absent resp burst in neutrophils presents with increased susceptibility to catalase-pos organisms (S. aureus, E.coli, and Aspergillus)
Chronic Granulomatous Disease
Autosomal recessive defect in lysosoal trafficking regulator gene (LYST) –> microtubule dysfunction in phagosome-lysosome fusion found with Giant Granules in Neutrophils
Chediak-Higashi Syndrome
Test for Chronic Granulomatous Disease
Abnormal Dihydrorhodamine (DHR) flow cytometry test - Nitroblue tetrazolium dye reduction test no longer preferred.
Findings include Increased IgE and IgA with decreased IgM, Thrombocytopenia
Wiskott-Alrich Syndrome
