Immunodeficiences

Question 1

Primary Immunodeficiences

Answer 1

Genetic defects, rare

Congenital or acquired

Intrinsic defect: Missing enzyme, cell type

Non-functioning component

May be humoral, cellular, or comnined

Question 2

Acquired Immunodeficiency

Answer 2

Secondary to infection, immunosuppresive, drugs, malnutrition

Underlying diseases

Lymphoid malignancy

Infection (HIV)

Question 3

Examples of primary or congenital Humaral Immunodeficiencies

Answer 3

• Hypogammaglobulinemias
• Agammaglobulinemias
• Hyper IgM Syndrome
• Selective IgA Deficiency

Question 4

Transient Hypogammaglobulinemia of Infancy

Type

Cause

Therapy

Symptoms

Answer 4

• 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

Question 5

Brutons Agammaglobulinemia

Type

Cause

Symptoms

Answer 5

• 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

Question 6

Brutons Agammaglobulinemia

Therapy

Answer 6

Vaccination (prevent infection)

Antibiotics for infections

Intravenous immunoglobulin (IVIg)

Question 7

Hyper IgM Syndrome

Type

Cause

Answer 7

• 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
  *

Question 8

Hyper IgM Syndrome

Symptoms

Answer 8

• Infections of bacteria, fungi, and oppurtunistic
• Defective cell-mediated immunity, macrophage activation

Question 9

Hyper IgM treatment

Answer 9

IVIg

Question 10

Selective Immunoglobulin Isotype Deficiency

Answer 10

• Primary, humoral
• Most common immunodeficiencies in white people
• Low serum IgA <50 microgram/mL
  *

Question 11

Selective IgA Deficiency

Symptoms

Answer 11

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

Question 12

Common Variable Immunodeficiency

Answer 12

• CVID heterogenous grp of disorders
• commonest form of primary Ab deficiency
• Mature B cells are present, but no plasma
  *

Question 13

How do you diagnose CVID

Answer 13

By exclusion of other primary immunodeficiency

Question 14

Symptoms of CVID

Presentation

Answer 14

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

Question 15

Treatment of CVID

Answer 15

IVIg

Patients lead normal, shortened lives

Question 16

DiGeorge Syndrome

Type of ID

About

Symptoms

Treat

Answer 16

• 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

Question 17

Severe Combined ID

Type

About

Symptoms

Answer 17

• 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

Question 18

Severe Combined Treat

Answer 18

BM transplant

Question 19

Chronic granulomatous Disease(CGD)

Answer 19

• 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

Question 20

Chronic Granulomatous Disease Symptoms

Answer 20

Susceptibility to infections

Pneumonia, lymph node and lung infection, abscesses of skin and liver

High frequency and variable presentations of oral complications

Question 21

Chronic Granulomatous Disease Treatment

Answer 21

• Antibiotic (long term prophylatic)
  
  • Amphobactericin B iv
• IFN-gamma injections
  
  • activates macrophages for controlling bacterial and fungal infections

Question 22

Acquired Immune Deficiency Syndrome

Development

Answer 22

• 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

Question 23

AIDS detection

Answer 23

Anti-HIV antibody detection

PCR

Question 24

AIDS Treatment

Answer 24

• 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

Question 25

HIV Infection associated periodontal disease

Answer 25

• Patients with low CD4 counts and high viral loads likely to develop
  
  • destructive periodontal infections
  • oral manifestations of HIV
• Those with less than 200 CD4 cells/mm are 9X higher to get an oral manifestation of HIV
  
  • Oral lesions with aphthous ulceration, oral hairy leukoplakia, oral candidiaisis
  • Predictive that aptient has AIDS
• Destructive necrotizing ulcerative periodontits and necrotizing ulcerative stomatitis may develop in HIV
  *

Question 26

Effect of Immune suppression (AIDS) increases risk of

Answer 26

Periodontal attachment loss

Gingival recession

Question 27

Oral Candidiasis

Answer 27

White lesions on palate

Marker of mild immunodeficiency

Often 1st oppurtunistic infection in HIV patients