Immunodeficiency Disorder

Question 0

State in which the immune system’s ability to flight infectious disease in compromised
Can occur if any of the four major components of the immune system are compromised:
B cells
T cells
Phagocytes
Complement

Answer 0

Immunodeficiency

Question 1

Recurrent infections with pyogenic bacteria indicate a b-cell deficiency
Recurrent infections with fungi, viruses or Protozoa indicate a t-cell deficiency

Answer 1

Immunodeficiency

Question 2

Genetic susceptibility to infections since childhood

IgA deficiency, Bruton’s XLA

Answer 2

Primary immunodeficiency

Question 3

Acquired susceptibility to infection as a result of external processes or diseases
(Malnutrition, aging, drugs, AIDS)

Answer 3

Secondary immunodeficiency

Question 4

B cell disorders

Answer 4

1. X-linked agammaglobulinemia/Bruton’s Agammaglobulinemia
2. Selective IgA Deficiency
3. Common variable immunodeficiency

Question 5

T cell disorders

Answer 5

1. Di George Syndrome

2. Chronic mucocutaneous candidiasis

Question 6

Combined B and T cell disorders

Answer 6

1. Severe combined immunodeficiency (SCID)
2. Wiskott-Aldrich Syndrome
3. Ataxia-Telangiectasia

Question 7

Phagocyte disorders

Answer 7

1. Chronic Granulomatous Disease
2. Chediak-Higashi Syndrome
3. Leukocyte adhesion deficiency (LAD)

Question 8

Complement disorders

Answer 8

1. C2 deficiency

2. C3 deficiency

Question 9

Very low levels of all immunoglobulins
Virtual absence if B cells due to tyrosine kinase mutation 
Cell-mediated immunity is normal
Male infants at about 6 months of age
Recurrent pyogenic bacterial infections
Recurrent enteroviral infections
Recurrent giardiasis
Tx: pooled gamma globulin

Answer 9

X-linked Agammaglobulinemia or Bruton’s Agammaglobulinemia

Question 10

Failure of isotope switching
Recurrent bacterial sinus and lung infections
Tx: do not treat with gamma globulins preparations

Answer 10

Selective IgA Deficiency

Question 11

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
Tx: pooled gamma globulin

Answer 11

Common variable immunodeficiency

Question 12

Profound deficit of T cells
Failure of development of thymus and parathyroid a
Due to a defect in 3rd and 4th pharyngeal pouches
Humoral immunity is normal
Tetany due to hypocalcemis
Severe viral, fungal, or Protozoal infections during infancy
Tx: transplant of fetal thymus

Answer 12

Di George Syndrome

Question 13

Cardiac defect (TOF)
Abnormal facies
Thymic aphasia 
Cleft palate
Hypocalcemia
22q11.2 chromosomal deletion

Answer 13

Di George Syndrome

Question 14

Specific T-cell deficiency for Candida albicans
Other T-cell and B-cell functions are normal
Recurrent candidiasis (skin, mucous membranes) in children
Tx: azole antifungal drugs

Answer 14

Chronic mucocutaneous candidiasis

Question 15

X-linked defect in IL-2 receptors in T cells
Autosomal: ADA deficiency
Recurrent bacterial, viral, fungal and protozoal infection in early infancy (3 months of age)
Tx: enclosure in plastic bubble
Bone marrow transplant

Answer 15

Severe combined immunodeficiency

Question 16

X-linked (affects 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 16

Wiskott-Aldrich Syndrome

Question 17

Autosomal recessive disease
Mutations in DNA repair enzymes
IgA deficiency
Ataxia, Telangiectasia, recurrent infections by 2 years of age
Tx: supportive management

Answer 17

Ataxia-Telangiectasia

Question 18

Lack of NADPH oxidase activity
Failure of oxidase burst
Normal B and T cell activity
Recurrent infections with catalase-positive bacteria, fungi
Widespread granulomas of unknown etiology
Tx: antibiotic chemoprophylaxis

Answer 18

Chronic Granulomatous Disease

Question 19

Autosomal recessive disease
Failure of phagolysosomal fusion
Faulty microtubules impair neutrophil chemotaxis
Recurrent pyogenic infections caused by staphylococci and streptococci
Tx: antibiotics

Answer 19

Chediak-Higashi Syndrome

Question 20

Autosomal recessive disease
Mutation in integrins
Defective adhesion (LFA-1) proteins on the surface of phagocytes
Severe pyogenic infections in infancy
Delayed separation of umbilical cord
Tx: antibiotics, bone marrow transplant

Answer 20

Leukocyte Adhesion Deficiency (LAD)

Question 21

Specific deficiency in C5-C9
Inability to form membrane-attack complexes

Bacteremia with Neisseria meningitidis or Neisseria gonorrhoeae

TX: vaccination

Answer 21

C2 Deficiency

Question 22

Specific deficiency in C5-C9
Inability to form membrane-attack complexes

Bacteremia with Neisseria meningitidis or Neisseria gonorrhoeae

TX: vaccination

Answer 22

C3 Deficiency

Question 26

Decreased supply of amino acids
Decreased synthesis of IgG and complement

Malnourished child with recurrent pyogenic infections

TX: Antibiotics, nutritional support

Answer 26

Malnutrition

Question 27

HIV infects and kills CD4+helper T-cells
Loss of cell-mediated immunity

Opportunistic infections caused by bacteria, viruses, fungi and protozoa

TX: highly-active antiretroviral therapy (HAART)

Answer 27

AIDS