Immunology

Question 0

Recurrent infections with pyogenic bacteria indicate what kind of deficiency?

Answer 0

B-cell deficiency

Question 1

State in which the immune system’s ability to fight infectious disease is compromised

Answer 1

Immunodeficiency

Question 2

Recurrent infections with fungi, viruses or protozoa indicate what kind of deficiency?

Answer 2

T-cell deficiency

Question 3

It is characterized by genetic susceptibility to infections since childhood?

Answer 3

Primary immunodeficiency (Ex: IgA deficiency, Bruton’s XLA)

Question 4

It is characterized by acquired susceptibility to infection as a result of external processes or diseases

Answer 4

Secondary immunodeficiency (Ex: Malnutrition, Aging, Drugs, AIDS)

Question 5

Very low levels of ALL immunoglobulins There is virtual absence of B cells due to tyrosine kinase mutation Cell-mediated immunity is normal

Answer 5

X-linked agammaglobulinemia or Bruton’s Agammaglobulinemia

Question 6

Presents with: Recurrent pyogenic bacterial infections Recurrent enteroviral infections Recurrent giardiasis Affects male infants at about 6 months of age

Answer 6

X-linked agammaglobulinemia or Bruton’s agammaglobulinemia

Question 7

What is the source of the problem with Bruton’s agammaglobulinemia? What is the treatment?

Answer 7

Tyrosine kinase mutation Pooled gamma globulin

Question 8

There is failure of isotype switching There is recurrent bacterial sinus and lung infections

Answer 8

Selective IgA deficiency

Question 9

Should you give gamma globulin to patients with Selective IgA deficiency? Why or why not?

Answer 9

No -form antibodies against foreign IgA -cross reaction depletes their already low IgA or may cause anaphylaxis

Question 10

Defect in B-cell maturation to plasma cells Recurrent pyogenic bacterial infections Most common form of severe antibody deficiency affecting both children and adults Usually a diagnosis of exclusion What is this disease and what is the treatment?

Answer 10

Common Variable Immunodeficiency Pooled gamma globulin

Question 11

What are the problems with DiGeorge Syndrome?

Answer 11

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

Question 12

There is a profound deficit of T cells due to the failure of the development of thymus and parathyroids Humoral immunity is normal

Answer 12

DiGeorge Syndrome

Question 13

What caused the thymus development failure in DiGeorge Syndrome?

Answer 13

Defect in the 3rd and 4th pharyngeal pouches

Question 14

There is tetany due to hypocalcemia and prone to severe viral, fungal or protozoal infections during infancy What can explain this and what is the treatment?

Answer 14

DiGeorge Syndrome Transplant of fetal thymus (Note: this must come from a baby who is less than 14 weeks old)

Question 15

What is the immunologic problem with Chronic Mucocutaneous Candidiasis and its treatment?

Answer 15

Specific T-cell deficiency for Candida albicans Tx:Azole antifungals (Note: other T and B cell functions are normal and it presents with recurrent candidiasis in the skin or mucous membranes of children)

Question 16

What are the two mechanisms that can explain Severe Combined Immunodeficiency (SCID)?

Answer 16

1) X-linked: defect in IL-2 receptors in T-cells 2) Autosomal: Adenosine deaminase (ADA) deficiency

Question 17

In SCID, there is a defect in IL-2receptors in T-cells. What is the consequence of this?

Answer 17

Major Histocompatibility Complex (MHC) II can’t be formed.

Question 18

Presents with recurrent bacterial, viral, fungal and protozoal infection in early infancy (3mos). What is this and its treatment?

Answer 18

Severe combined immunodeficiency (SCID) Enclosure in a plastic bubble and bone marrow transplant.

Question 19

Presents with recurrent pyogenic infections, eczema, and bleeding due to a low platelet count. It is x-linked and there is an inability to mount an IgM response What is the disease, what is the x-linked problem and what is the treatment?

Answer 19

-Wiskott-Aldrich Syndrome -Mutation in the WASP gene for actin filament assembly -Bone marrow transplant How do you TIE a WASP? Thrombocytopenia Infections Eczema WASP mutation

Question 20

Autosomal recessive disease Mutations in DNA repair enzymes IgA deficiency Recurrent infections by 2 years of age What is the disease and treatment?

Answer 20

Ataxia-Telangiectasia Tx: supportive treatment (Note: also presents with Ataxia and Telangiectasia, pero give away kung ilalagay sa question) Mnemonic: ATI-atihan Ataxia Telangiectasia IgA deficiency

Question 21

Autosomal recessive disease Failure of phagolysosomal fusion Faulty _____ which impairs neutrophil chemotaxis Recurrent pyogenic infections caused by staph or strep What is the disease, the blank and treatment?

Answer 21

Chediak-Higashi Syndrome Microtubules Antibiotics

Question 22

There is a lack of NADPH oxidase activity but there is normal B and T cell activity Recurrent infections with catalase positive bacteria and fungi Widespread granulomas of unknown etiology What is the disease, diagnostic and treatment? Also, what catalase positive bacteria and specific fungi causes recurrent infections in these patients?

Answer 22

Disease: Chronic Granulomatous Disease Diagnostic: Nitroblue Tetrazolium Test Treatment: Antibiotics Catalase +: Staphylococcus spp. Fungi: A. fumigatus

Question 23

Autosomal recessive disease Mutation in integrins Defective adhesion proteins on thensurface of phagocytes There is severe pyogenic infection in infancy and delayed separation of umbilical cord What is the disease, the adhesion protein and treatment?

Answer 23

Leukocyte Adhesion Deficiency (LAD) or Lazy Leukocyte Disease LFA-1 Antibiotics and bone marrow transplant

Question 24

What is the most common complement defect? It is usually asymptomatic butmaydevelop what diseases?

Answer 24

C2 deficiency Septicemia or SLE

Question 25

Complement problem that presentsmwith recurrent pyogenic infections due to Staphylococcus aureus

Answer 25

C3 deficiency

Question 26

Complement problem involving the inability to form membrane-attack complexes. There is bacteremia. Treated with vaccinations Where is the deficiency and what organisms are responsible for the bacteremia?

Answer 26

C5-C9 deficiency (Terminal Complement Deficiency) Neisseria meningitidis or Neisseria gonorrhea

Question 27

Decreased supply of amino acids Decreased IgG and Complement synthesis Recurrent pyogenic infections Problem and treatment?

Answer 27

Malnutrition Antibiotics and nutritional support

Question 28

Opportunistic infections caused by bacteria, viruses, fungi and protozoa Loss of cell-mediated immunity Problem and treatment?

Answer 28

AIDS Highly-active Antiretroviral Therapy (HAART) (HIV infects and kills CD4+ helper T-cells)