VI - Immunodeficiency Disorders

Question 1

State in which the immune system’s ability to fight infectious disease is compromised, can occur if any of the four major components of the immune system are compromised

Answer 1

Immunodeficiency

Question 2

Major Components of the Immune System

Answer 2

B-cells (antibodies), T-cells, phagocytes, complement

Question 3

Recurrent infections with pyogenic bacteria indicate

Answer 3

B-cell Deficiency

Question 4

Recurrent infections with fungi, viruses or protozoa indicate

Answer 4

T-cell Deficiency

Question 5

Immunodeficiency: Genetic susceptibility to infections since childhood

Answer 5

Primary

Question 6

Immunodeficiency: Acquired susceptibility to infection as a result of external processes or disease

Answer 6

Secondary

Question 7

Very low levels of all immunoglobulins, virtual abscence of B-cells due to tyrosine kinase mutation, cell-mediated inmmunity is normal

Answer 7

X-Linked/Bruton’s Agammaglobulinemia

Question 8

B-Cell Disorders: Male infants, 6 mos. old, recurrent pyogenic bacterial, enteroviral infections and giardiasis

Answer 8

X-Linked/Bruton’s Agammaglobulinemia

Question 9

X-Linked/Bruton’s Agammaglobulinemia: Treatment

Answer 9

pooled gamma globulin

Question 10

Failure of isotype switching, recurrent bacterial sinus and lung infections

Answer 10

Selective IgA Deficiency

Question 11

Why shouldn’t you treat Selective IgA Deficiency with gamma globulin preparations?

Answer 11

formation of antibodies against foreign IgA → cross-reaction depletes their already low IgA or may cause anaphylaxis

Question 12

Defect in B-cell maturation to plasma cells, diagnosis of exclusion, recurrent pyogenic bacterial infections, most common form of severe antibody deficiency affecting both children and adults

Answer 12

Common Variable Immunodeficiency

Question 13

Common Variable Immunodeficiency: Treatment

Answer 13

pooled gamma globulin

Question 14

Profound deficit of T-cells from failure of development of thymus and parathyroids due to a defect in the 3rd and 4th pharyngeal pouches, humoral immunity is normal

Answer 14

Di George Syndrome

Question 15

T-Cell Disorders: Tetany due to hypocalcemia, severe viral, fungal or protozoal infections during childhood

Answer 15

Di George Syndrome

Question 16

Di George Syndrome: Treatment

Answer 16

transplant of fetal thymus (< 14 wks old)

Question 17

Specific T-cell deficiency for Candida albicans, other T-cell and B-cell functions are normal, recurrent candidiasis (skin, mucous membranes), in children

Answer 17

Chronic Mucocutaneous Candidiasis

Question 18

Chronic Mucocutaneous Candidiasis: Treatment

Answer 18

azole antifungal drugs

Question 19

X-Linked Severe Combined Immunodeficiency (SCID)

Answer 19

defect in IL-2 receptors in T-cells

Question 20

Autosomal Severe Combined Immunodeficiency (SCID)

Answer 20

ADA deficiency

Question 21

Recurrent bacterial, viral, fungal and protozoal infections at 3 mos., enclosure in plastic bubble, bone marrow transplant

Answer 21

Severe Combined Immunodeficiency (SCID)

Question 22

X-linked, male infants, inability to mount IgM response, mutation in WASP gene for actin filament assembly recurrent pyogenic infections, eczema and bleeding due to thrombocytopenia, bone marrow transplant

Answer 22

Wiskott-Aldrich Syndrome

Question 23

Autosomal recessive, mutations in DNA repair enzymes, IgA deficiency, ataxia, telangiectasia, recurrent infections by 2 years of age, supportive management

Answer 23

Ataxia-Telangiectasia

Question 24

Lack of NADPH oxidase activity, failure of oxidative burst, normal B- and T-cell activity, recurrent infections with catalase (+) bacteria and fungi (A. fumigatus), widespread granulomas of unknown etiology, antibiotic chemoprophylaxis

Answer 24

Chronic Granuloma Disease

Question 25

Chronic Granuloma Disease: Diagnosis

Answer 25

Nitroblue Tetrazolium Test (NBT)

Question 26

Autosomal recessive, failure of phagolysosomal fusion, faulty microtubules impair neutrophil chemotaxis, recurrent pyogenic infections caused by staphylococci, antibiotics

Answer 26

Chediak-Higashi Syndrome

Question 27

Autosomal recessive, mutation in integrins, defective adhesion (LFA-1) proteins on the surface of phagocytes, severe pyogenic infections in infancy, delayed separation of umbilical cord, antibiotics, bone marrow transplant

Answer 27

Leukocyte Adhesion Deficiency (LAD)

Question 28

Early Complement Deficiency

Answer 28

C2 & C3 Deficiency

Question 29

Terminal Complement Deficiency

Answer 29

C5b-C9 Deficiency

Question 30

Most common complement defect, usually asymptomatic but may develop septicemia of SLE

Answer 30

C2 Deficiency

Question 31

Complement deficiency with recurrent pyogenic infections due to Staphylococcus aureus

Answer 31

C3 Deficiency

Question 32

Inability to form membrane attack complexes, bacteremia with Neisseria meningitidis and gonorrhoeae, vaccination

Answer 32

C5b-C9 Deficiency

Question 33

Secondary Immunodeficiency: Decreased supply of AA and synthesis of IgG and complement, malnourished child with recurrent pyogenic infections, antibiotics, nutritional support

Answer 33

Malnutrition

Question 34

HIV infects and kills

Answer 34

CD4+ helper T-cells

Question 35

Secondary Immunodeficiency: Loss of cell-mediated immunity, opportunistic infections caused by bacteria, viruses, fungi and protozoa

Answer 35

AIDS

Question 36

AIDS: Treatment

Answer 36

Highly-Active Antiretroviral Therapy (HAART)