Immune Deficiencies Flashcards
Course faces, abscesses, retained primary teeth, Dermatological problems
Hyper-IgE Syndrome (labs show increased IgE)
Decreased Th1 response leading to disseminated mycobacterial infections and decreased IFN-gamma.
IL-12 Receptor Deficiency
Defect in DNA repair enzymes
Ataxia-telangiectasia
Defect in B-cell maturation. Acquired in 20’s-30’s.
Common variable Immunodeficiency
Defective Adenosine deaminase deficiency
SCID
Defective CD40 Ligand on Helper T Cells
Hyper IgM syndrome
Defective IL-2 Receptor
SCID
Defective MHC II antigens
SCID
Delayed separation of umbilicus and recurrent bacterial infections…
Leukocyte adhesion deficiency
Failure to produce IFN-gamma, and inability for neutrophils to response to chemotactic stimuli.
Hyper-IgE syndrome
Inability to class switch, leading to increased pyogenic infections early in life. Labs show increased IgM
Hyper IgM Syndrome
Increased IgE, IgA, decreased IgM
Wiskott Aldrich Syndrome
Lack of Isotype switching that leads to deficiency in some type of immunoglobulins most commonly A
Selective Ig deficiency
Lack of NADPH oxidase
Chronic Granulomatous disease
Microtubule defect leading to recurrent pyogenic infections, partial albinism and peripheral neuropathy
Chediak Higashi syndrome
Present with autoimmune disease, lymphoma, sinopulmonary infections . Labs show normal number of B cells but decreased plasma cells and immunoglobulin.
Common variable Immunodeficiency
Present with Hypocalcemia, and T cell deficiency.
DiGeorge Syndrome
Presents with ataxia, spider angiomas and IgA deficiencies
Ataxia-telangiectasia
Presents with recurrent bactierial infections after 6 months of age. Labs will show few B cells and immunoglobulins of all classes.
Bruton’s Agammaglobinemia
Recurrent infections of all types due to both B and T cell deficiency.
SCID
Sinus, lung infections, milk allergies, diarrhea
Selective Ig Deficiency
Susceptibility to catalase positive organisms
Chronic Granulomatous disease
T-cell dysfunction
Chronic mucocutaneous candidiasis
Thrombocytopenia, Infection, Eczema
Wiskott Aldrich Syndrome
Thymic Aplasia
DiGeorge Syndrome
X linked recessive defect in a tyrosine Kinase which prevents B cell maturation.
Bruton’s Agammaglobinemia
X-linked recessive defect that leads to B and T cell depletion
Wiskott Aldrich Syndrome
