Immunodeficiency Disorders Flashcards
Recurrent infections w/ pyogenic bacteria indicates
B-cell deficiency
Recurrent infection w/ fungi, viruses or protozoa indicate
T-cell deficiency
B-cell disorder
Mechanism: low levels of all immunoglobulins
- virtual absence of B cells due to tyrosine kinase mutation
- cell mediated immunity is normal
CM
- male infants (6 months of age)
- recurrent pyogenic bacterial infection
X-linked agammaglobulinemia/
Bruton’s Agammaglobulinemia
Tx: Gamma globulin
B cell disorder
Mechanism: failure of isotyped switching
CM: recurrent bacterial sinus & lung infection
Selective IgA deficiency
Tx. do Not treat w/ gamma globulin -> form antibodies against foreign IgA
B-cell disorder
Mechanism: defect in B-cell maturation to plasma cells
Common Variable immunodeficiency
T-Cell disoder
Mechanism: profound deficit of T cells
- failure of development of thymus & parathyroids
- due to defect in 3rd & 4th pharyngeal pouches
- humoral immunity intact
Di George Syndrome
Tx. Transplant of thymus
DiGeorge Syndrome
CATCH-22 Cardiac defect (TOF) Abnormal facies Thymic aplasia Cleft palate Hypocalcemia 22q 11.2 chromosomal deletion
T-cell disoder
Mechanism: specific T-cell deficiency for Candida albicans
CM: recurrent candidiasis in children
Chronic Mucocutaneous Candidiasis
Combined B & T cell Disorders
Mechanism: X-linked: defect in IL-2 receptors in T cells
Autosomal: ADA deficiency
CM: recurrent bacterial, viral fungal & protozola infection in early infancy (3 months)
Severe Combined Immunnodeficiency (SCID)
Tx. Plastic bubble
Bone marrow transplant
Combined B & T cell Disorders
Mechanism: X-linked: (male infants)
-inability to mount IgM response
-mutation in WASP gene for actin filament assembly
CM: recurrent pyogenic infections, eczema, & bleeding due to thrombocytopenia
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome
How do you TIE a WASP Thrombocytopenia Infections Eczema WASP mutation
Combined B & T cell Disorders Mechanism: autosomal recessive disease -mutations in DN repair enzymes -IgA presentation CM: ataxia, telangiectasia, recurrent infections by 2 years of age
Ataxia-Telangiectasia
Phagocyte Disorders
Mechanism: lack of NADPH oxidase activity (fail oxidative burst) ; normal B & T cell activity
CM: recurrent infection w/ catalase-positive bacteria (S.aureus) & Fungi (A fumigatus)
Chronic granulomatous disease
Phagocyte Disorders
Mechanism: autosomal recessive disease
- failure of Phagolysosomal fusion
- faulty microtubules impair neutrophil chemotaxis
Chediak-Higashi syndrome
Phagocyte Disorders
Mechanism: autosomal recessive disease
-defective adhesion (LFA-1) proteins on the surface of phagocytes
CM: severe pyogenic infections in infancy
- delayed separation of umbilical cord
Leukocyte Adhesion Deficiency (LAD)
Most common complement defect
C2 Deficiency
Recurrent pyogenic infections due to Staph Aureus
C3 Deficiency
Inability to form membrane attack complexes
CM: bacteremia w/ N meningitidis / N gonorrhoeae
Terminal Complement Deficiency
Diagnostic test for Chronic granulomatous disease
Nitroblue Tetrazolium
