Immunodeficiency Disorders

Question 1

Recurrent infections w/ pyogenic bacteria indicates

Answer 1

B-cell deficiency

Question 2

Recurrent infection w/ fungi, viruses or protozoa indicate

Answer 2

T-cell deficiency

Question 3

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

Answer 3

X-linked agammaglobulinemia/
Bruton’s Agammaglobulinemia

Tx: Gamma globulin

Question 4

B cell disorder
Mechanism: failure of isotyped switching
CM: recurrent bacterial sinus & lung infection

Answer 4

Selective IgA deficiency

Tx. do Not treat w/ gamma globulin -> form antibodies against foreign IgA

Question 5

B-cell disorder

Mechanism: defect in B-cell maturation to plasma cells

Answer 5

Common Variable immunodeficiency

Question 6

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

Answer 6

Di George Syndrome

Tx. Transplant of thymus

Question 7

DiGeorge Syndrome

Answer 7

CATCH-22
Cardiac defect (TOF)
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia
22q 11.2 chromosomal deletion

Question 8

T-cell disoder
Mechanism: specific T-cell deficiency for Candida albicans
CM: recurrent candidiasis in children

Answer 8

Chronic Mucocutaneous Candidiasis

Question 9

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)

Answer 9

Severe Combined Immunnodeficiency (SCID)

Tx. Plastic bubble
Bone marrow transplant

Question 10

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

Answer 10

Wiskott-Aldrich syndrome

Question 11

Wiskott-Aldrich syndrome

Answer 11

How do you TIE a WASP
Thrombocytopenia
Infections
Eczema
WASP mutation

Question 12

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

Answer 12

Ataxia-Telangiectasia

Question 13

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)

Answer 13

Chronic granulomatous disease

Question 14

Phagocyte Disorders
Mechanism: autosomal recessive disease
- failure of Phagolysosomal fusion
- faulty microtubules impair neutrophil chemotaxis

Answer 14

Chediak-Higashi syndrome

Question 15

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

Answer 15

Leukocyte Adhesion Deficiency (LAD)

Question 16

Most common complement defect

Answer 16

C2 Deficiency

Question 17

Recurrent pyogenic infections due to Staph Aureus

Answer 17

C3 Deficiency

Question 18

Inability to form membrane attack complexes

CM: bacteremia w/ N meningitidis / N gonorrhoeae

Answer 18

Terminal Complement Deficiency

Question 19

Diagnostic test for Chronic granulomatous disease

Answer 19

Nitroblue Tetrazolium