Immunodeficiences Flashcards
(27 cards)
Primary Immunodeficiences
Genetic defects, rare
Congenital or acquired
Intrinsic defect: Missing enzyme, cell type
Non-functioning component
May be humoral, cellular, or comnined
Acquired Immunodeficiency
Secondary to infection, immunosuppresive, drugs, malnutrition
Underlying diseases
Lymphoid malignancy
Infection (HIV)
Examples of primary or congenital Humaral Immunodeficiencies
- Hypogammaglobulinemias
- Agammaglobulinemias
- Hyper IgM Syndrome
- Selective IgA Deficiency
Transient Hypogammaglobulinemia of Infancy
Type
Cause
Therapy
Symptoms
- Primary, Humoral
- Normal physiological phenomenon
- Delay in B cell development–> low Ab
- Infants mother IgG helps for first month
- No therapy
- Within 9 months levels will be normal
- Symptoms: Increases frequency and infection of bacteria
Brutons Agammaglobulinemia
Type
Cause
Symptoms
- Primary, humoral, X-linked
- Low amt of mature B cells circulating
- Mutation/deletion of B cell Tyrosine Kinase (Btk) gene
- B cells fail to mature in BM
- T cell normal
- Some develop autoimmune diseases
- Infections occur after moms IgG dies off
- Pyogenic infections
Brutons Agammaglobulinemia
Therapy
Vaccination (prevent infection)
Antibiotics for infections
Intravenous immunoglobulin (IVIg)
Hyper IgM Syndrome
Type
Cause
- Primary, humoral, X-linked, rare
- B cells cant class switch
- Mutation in CD40L
- Defect in Th cell-mediated B cell activation
- Or Activation-Induced Deaminase enzyme (AID) defect
- Somatic mutation and class switching issues
- Only produce IgM, bc Th never stimulate B cells to undergo Heavy chain switching
- Lack IgG
*
Hyper IgM Syndrome
Symptoms
- Infections of bacteria, fungi, and oppurtunistic
- Defective cell-mediated immunity, macrophage activation
Hyper IgM treatment
IVIg
Selective Immunoglobulin Isotype Deficiency
- Primary, humoral
- Most common immunodeficiencies in white people
- Low serum IgA <50 microgram/mL
*
Selective IgA Deficiency
Symptoms
Variable clinical features: norma, respiratory infections, diarrhea
Some asymptomatic
Predisposed to:
Celiacs, oral mucosal infections
pharyngitis, stomatitis, herpes labialis
No effect on perio and dental health
Common Variable Immunodeficiency
- CVID heterogenous grp of disorders
- commonest form of primary Ab deficiency
- Mature B cells are present, but no plasma
*
How do you diagnose CVID
By exclusion of other primary immunodeficiency
Symptoms of CVID
Presentation
Low serum levels of IgG and IgA
Normal or reduced IgM and B cells
Impaired Ab responses to infections or vaccination
1/3 have abnormalities of cell-mediated immunity
Presentation and pathogenesis is highly variable
Pyogenic, bacterial, viral infections
High incidence of malilgnant tumors
Treatment of CVID
IVIg
Patients lead normal, shortened lives
DiGeorge Syndrome
Type of ID
About
Symptoms
Treat
- Type: Primary cellular
- About
- T lymphocytes absent of greatly deficient
- Normal B cells
- Congenital malformation of thymus, not hereditary
- Thymus is small, other organs may be abnormal (parathyroid gland)
- Symptoms
- Recurrent viral infections
- Treat
- Transplantation of a fetal thymus
Severe Combined ID
Type
About
Symptoms
- Type
- Primary ID
- X-linked inherited
- Boy in bubble
- About
- Cell mediated and humoral immunity are deficient
- Greatly reduced B and T cells
- Symptoms
- Present in first week/months
- Extremely infection prone
- often viral or fungal
- Respiratory infections and thrush are common
Severe Combined Treat
BM transplant
Chronic granulomatous Disease(CGD)
- About
- defect in phagocytes
- Phagocytes fail to produce hydrogen peroxide and oxide radicals
- due to genetic defect in NADPH oxidase
- Phagocytosed pathogen cannot be eliminated
Chronic Granulomatous Disease Symptoms
Susceptibility to infections
Pneumonia, lymph node and lung infection, abscesses of skin and liver
High frequency and variable presentations of oral complications
Chronic Granulomatous Disease Treatment
- Antibiotic (long term prophylatic)
- Amphobactericin B iv
- IFN-gamma injections
- activates macrophages for controlling bacterial and fungal infections
Acquired Immune Deficiency Syndrome
Development
- AIDS caused by HIV
- HIV binds to CD4 T cells and replicates within
- Thelper processes and presents HIV ag to CD8 CTL
- CTL destroys T helper leading to low CD4 T cells
- Direct cytopathic effect of HIV on CD4 T cells
- Causes spectrum of diseases
- transient to acute fever-like illness
- cancer
- oppurtunistic infections
AIDS detection
Anti-HIV antibody detection
PCR
AIDS Treatment
- Triple drug therapy
- HAART- Highly active anti-ertoviral therapy
- results in depletion of CD4 T cells gaining AIDS status
- CD4 T cell count is one tenth 1/10 of a normal person
