Primary and Secondary Immune Deficiencies Flashcards
Most common primary immune deficiency
IgA deficiency
immune deficiency
characterized by recurrent or persistent infections with
opportunisitic pathogens
do not normally cause disease but does so if afforded the opportunity
secondary immunodeficiencies
malnourishment or medical therapy
Deficiencies in phagocytosis are characterized by
recurrent oppotunisitic infections with extracellular pathogens
Deficiencies in phagocytosis are characterized by infections with
staph a., strep. P, e. coli, pseudo, candida, aspergillus
Normal neutrophil count is between
2000-6000
Congenital agranulocytosis
absence of mature peripheral blood neutrophils due to maturation arrest at myeloid progenitor
Mutations causing Congenital agranulocytosis
ELANE, HAX1, VPS45
Congenital agranulocytosis have recurrent infections with
bacterial and fungal infections
Radiation/Chemotherapy induced neutropenia
due to short-life span
Leukemia patient w/o treatment has neutropenia?
leukemic cells crowding out neutrophil precursors
G-CSF
recombinant colony-stimulating factors to quickly recover neutrophil count after radiation
Leukocyte Adherence Deficiency
LAD1 (defective integrin CD18) and LAD2 (defective selectin) = inability to adhere and extravasate
LAD have recurrent infections AND
inability to form pus, impaired ability of CTL and NK to adhere targets
Lazy Leukocyte Syndrome
defects in the ability of neutrophils to produce and/or respond to chemotactic signals (C5a, C3a)
Chronic Granulomatous Disease
mutation is cytochrom b, NADPH oxidase, or G6PD and myeloperoxidase leading to decreased H2O2 production
Chronic Granulomatous Disease manifestations
granulatomous lesions, neutrophils do not kill staph a. instead serves as a transporter
Most prevalent primary defect in intracellular killing of digested bacteria
Chronic Granulomatous Disease
Chediak-Higashi Syndrome
defect in MT polymerization = defect in lysosome generation and function
Chediak-Higashi Syndrome mutation in
LYST gene = MT polymerization
Chediak-Higashi Syndrome manifestations
recurrent staph and strep pyogenic infections, silver hair
Bruton’s X-linked agammaglobulinemia
quantitative deficiency in B cells, low number of mature B cell and plasma cells
Bruton’s X-linked agammaglobulinemia recurrent
infections with staph, strep, haemo with anti-phagocytic capsules
Bruton’s X-linked agammaglobulinemia has normal number of
pre-B cells
Bruton’s X-linked agammaglobulinemiais a defect in
BTK gene - B cell receptor cytoplasmic signaling
X-linked hyper-IgM syndrome
Elevated IgM, but no IgG, IgE, or IgA due to CD40 defect for B cell proliferations and isotype switching
X-linked hyper-IgM syndrome defect in
CD40
X-linked hyper-IgM syndrome have recurrent
pyogenic infections
Isotype deficiencies (IgA)
No IgA, allergies, respiratory, mucous-associated illnesses, IgE anti-IgA
Common Variable Hypogammaglobulinemia
Normal Mature B cells, but no plasma cells
Common Variable Hypogammaglobulinemia defect in
cytokine receptor, Th2 production (IL-5)
DiGeorge Syndrome
congenital athymic syndrome, low T cell CD3 counts
Chronic Mucutaneous Candidiasis
chronic candida infection due to deficiency in T cells to respond to Candida
Job Syndrome
T cells fail to produce IFN-gamma –> Th2 –> IL-4–> IgE, eczema, infections
Job Syndrome defect in
STAT3 genes
HIV infects cells with
CD4 markers
Latent AIDS infection
positive p24 HIV antigen, no symptoms, normal CD4 count
pre-AIDS
reducing CD4 counts (200-500), fever, diarrhea, weight loss, anemia, leukopenia, thrombocytopenia
AIDS
<200 CD4 count, plus pre-AIDs
Common infections in AIDS patients
oral thrush, HSV, cytomegalovirus, pneumocystis, TB
Reticular dysgenesis
both myeloid and lymphoid stem cells fail to differentiate = no B or T cells or neutrophils
Bare lymphocyte Syndrome Type I
No HLA Class I expression- failure to activate T cells to develop low T cell numbers
Bare lymphocyte Syndrome Type II
No HLA Class I and II expression- failure to activate T cells to develop low T cell numbers
Severe Combined immunodeficiency (SCID)
markedly depressed B and T cell counts due to faulty cytokine receptors (IL-2, Il-4, Il-7)
SCID from ADA
adenosine deaminase mutation reults in toxic accumulation of metabolites, no B or T cells
OMENN Syndrome
SCID with mutation in RAG1/2, no B cell production, few T cells produced
Wiskott-Aldrich Syndrome
WASP mutation necessary for T cell activation of B cell
Wiskott-Aldrich Syndrome manifestations
normal B and T cell numbers, but eczema, thrombocytopenia, defective antibody production
Ataxia-Telangiectasia
mutation in the ATM gene for dsDNA break repair = low numbers of B and T cells
Ataxia-Telangiectasia susceptibility to
lung infections, leukemia, and lymphoma
Defects in C1, C2 or C4
increased IC disease or rheumatic diseases (failure to clear out Ics) and increased extracellular pus-forming bacteria
C3 deficiency
recurrent encapsulated bacterial infections –> rheumatic diseases
Alternative Pathway (Factor B, D, H or Properdin) deficiency
recurrent Neisseria infections
MAC deficiency (C5, C6, C7, C8)
recurrent Neisseria infections
Hereditary Angioedema
defect in C1 inhibitor, overproduction of peptides that regulate vascular permeability
