Immunodeficiencies Flashcards
Immunodeficiency due to failed B cell Maturation
Bruton’s agammaglobulinemia
Bruton’s agammaglobulinemia is due to
Recurrent Bacterial and Enteroviral infection after 6 months
Bruton’s agammaglobulinemia is also known as
Bruton’s BTK (Bruton’s Thryosine Kinase) deficiency
Bruton’s agammaglobulinemia lab significance
Decrease Immunoglobulins
Most common congenital immunodeficiency
Selective IgA immunodeficiency
Clinical Significance: Selective IgA deficiency
Majority are ASYMPTOMATIC
Laboratory Significance: Selective IgA deficiency
Decrease IgA
Impaired B cell differentiation
Common Variable Immunodeficiency
Common Variable Immunodeficiency
Laboratory Significance:
Clinical Significance:
Laboratory Significance:
Decrease Immunoglobulin
Decrease Plasma Cells
Clinical Significance:
Occurs around 20-30 yrs of Age due
recurrent bacterial infection
- There are presence of normal T cell
- But there is insufficient amount of mature T cells
- T cells are mature and normal but INSUFFICIENT
DiGeorge Syndrome
Clinical significance:
- Tetani
- Recurrent Viral and Fungal Infection
Lab Significance:
- Decrease T cell
- Decrease PTH
- Decrease Calcium
DiGeorge Syndrome
Condition by which there is deficient Th17 causing IMPAIRED CHEMOTAXIS
Job Syndrome / Hyper IgE syndrome
In Job syndrome,
Increased IgE is associated in
Dermatologic problems
Lab diagnosis of Job Syndrome:
Increase IgE
Decrease IFN-gamma
Most SEVERE congenital immunodeficiency
SCID
Severe Combined ImmunoDeficiency
Failture to thrive;
Treatment: BM transplant
Absent germinal center
Absent T cell
SCID
Severe Combined ImmunoDeficiency
Impaired repair of Double strand of DNA = CELL CYCLE ARREST
Ataxia Telangiectasia
Triple Triad
Ataxia
spider Angioma
IgA deficiency
Increase AFP
Decrease IgA IgG IgE
Ataxia Telangiectasia
Class switching defect
Hyper-IgM syndrome
Increase IgM
Decrease IgA IgG IgE
Associated w/ Severe pyogenic Infections in early life
Hyper-IgM syndrome
Mutation in WAS gene
Wiskott-Aldritch Syndrome
Clinical Significance of Wiskot-Aldritch Syndrome
WA-TIE
Thrombocytopenia
Immunodeficiency
Eczema
Increase IgE IgA
Fewer or Smaller Platelets
Wiskot-Aldritch Syndrome
- Impaired migration and chemotaxis
- defecient in CD18 receptor
Leukocyte Adhesion Deficiency
Absent Pus formation
Impaired Wound Healing
Associated with
Increased neutrophils
Leukocyte Adhesion Deficiency
Defect in LYST Gene
Dysfunction in fusion of phagosome and Lysosome
Chedlak-HIGAshi Syndrome
Usually associated with Recurrent Pyrogenic infection by staphylococci, streptococci
LARGE GRANULES
Pancytopenia
Chedlak-HIGAshi Syndrome
Defect in NADPH oxidase
Decrease Respiratory Burst in neutrophils
Chronic Granulomatous Disease
A condition by which an individual is prone to have an infection from catalase (+) organism
Chronic Granulomatous Disease
Clinical Findings:
- Failure to reduce dye in nitroblue tetrazolium test (NBT)
- Abnormal Dihydrorhodamine Test
Chronic Granulomatous Disease
In the clinical diagnosis of Chronic Granulomatous disease, it is much more Objective and Quantitative
Dihydrorhodamine Test
