Immunological Diseases: Kim

Question 1

DiGeorge Syndrome

Answer 1

Genetics: Microdeletions in chromosomal region 22q11.2 –> thymic hypoplasia
Immunology: T Cell Deficiency
Results: Frequent infection; developmental problems
Tx: Thymus transplant

Question 2

Rheumatoid Arthritis (autoimmune disease)

Type 3 and 4 hypersensitivity

Answer 2

Rheumatoid factor = IgM/IgG Ab to Fc region of IgG. Anti-cyclic citrullinated peptide, C-reactive protein, erythrocyte sedimentation rate
Tx: Anti-rheumatic drug = methotrexate-hydroxychloroquine or methotrexate-sulfasalazine), glucocorticoids, anti-TNFa

Question 3

Hyper IgM (immunodeficiency)

Answer 3

Genetics: Lack of CD40L, CSR, CMI
Immunology: No IgG/A/E
Susceptibility: Extracellular and intracellular bacteria
Tx: Gamma globulin transfusion, Abx

Question 4

MHC-I Deficiency

Answer 4

Genetics: Tap1 Tap2 or Tapasin
Immunology: No CD8 T cells
Susceptibility: Chronic infection

Question 5

Chronic Granulomatous Disease

Answer 5

Lack of NADPH oxidase deficiency –> lack of oxidative burst in phagocytes
Test oxidase activity with nitroblue tetrazolium (NBT) and X-ray
Susceptibility: Pyogenic bacteria
Tx: Abx, IFN-gamma therapy, gene therapy

Question 6

Acute Inflammatory Polyneuropathy (autoimmune disease)

Answer 6

Demyelination in peripheral nerves–> ascending motor weakness
Test with: nerve conduction test
Tx: IV Ig and plasmapheresis and ventilatory assistance

Question 7

Contact Sensitivity to Poison Ivy

Type 4

Answer 7

Antigen: Pentadecacatechol-protein
Ag activates Th1 which activates MQ
Tx: Corticosteroid

Question 8

Pernicious Anemia

Answer 8

Anti- intrinsic factor or anti-parietal cells –> lack of Vitamin B12 absorption –> cobalamin deficiency
Can’t produce thymine for DNA including for blood cells –> anemia
Test: Peripheral blood: macrocytic anemia with mild leukopenia and thrombocytopenia and B12 absorption test and Anti-intrinsic factor ELISA
Tx: Cobalamin therapy

Question 9

GVHD

Answer 9

Donor T cells from bone marrow graft attack host
Production of inflammatory cytokines
Tx: Immunosuppressive drugs
Prevention: Use stem cells depleted of T cells

Question 10

Insulin-dependent Diabetes Mellitus (autoimmune disease)

Type 2 and 4

Answer 10

T cell responses cause pancreas beta cell death –> defective insulin synthesis
Tx: Insulin…

Question 11

Allergic Asthma

Type 1

Answer 11

Mediators: IgE, mast cells, (T cell-mediated hyper-response)
EPISODIC: reversible airway obstruction, increased bronchial reactivity, and airway inflammation

Question 12

Tests for Allergic Asthma

Answer 12

Pulmonary function tests, serum IgE levels, radioallergosorbent assay test (RAST)

Question 13

Treatment for Allergic Asthma

Answer 13

Epinephrine and/or inhaled glucocorticoids
Allergy desensitization therapy: Repeated injections of small doses of allergen to induce immune tolerance. Antibodies to IgE

Question 14

Systemic Lupus Erythematosus (autoimmune complex disease)

Answer 14

Anti-nuclear Ab (histone, DNA, ribosome)
Kidney, joints, and blood vessels are affected
Low complement serum concentration
Tx: Prednisone and naproxen

Question 15

Drug-Induced Serum Sickness

Type 3 immune complex

Answer 15

= Arthus reaction = fever, arthralgia, lymphadenopathy, and skin eruption
Drugs modify proteins to become haptens –> Ab formation to the drug (similar to serum sickness caused by anti-venom) different from anaphylactic shock that happens immediately and more severely
Tx: Prednisone and anti-histamine

Question 16

IFN-gamma deficiency

Answer 16

Lack of IFN-gamma activity (supposed to activate MQ)
Susceptibility: mycobacteria and other intracellular pathogens
No granuloma formation
Tx: Abx

Question 17

Myasthenia Gravis

Type 2

Answer 17

Ab to Ach-R
Severe muscle weakness
Tx: Corticosteroids, Cholinesterase inhibitors, Thymectomy, Plasmapheresis

Question 18

Immune Thrombocytopenic Purpura

Type 2

Answer 18

React with platelet membrane glycoproteins
Suffer from bruising, nosebleeding, and bleeding gums
Tx: Corticosteroids, Iv-Ig, splenectomy, and immunosuppressive drugs

Question 19

Atopic Dermatitis

Type 1

Answer 19

Type of eczema
Common in young patients
Tx: Corticosteroid, tacrolimus, and methotrexate

Question 20

Hashimoto’s Disease (autoimmune disease)

Answer 20

Hypothyroidism
T-cells attack thyroid–> low T3 and T4
*Some linked to HLA-DR5/CTLA4 polymorphism
Tx: Thyroid hormones

Question 21

Adenosine Deaminase Deficiency (SCID)

Answer 21

Decreased DNA synthesis —> low T and B cell levels

Tx: Bone marrow transplant, gene therapy, ADA protein delivery

Question 22

MHC-II Deficiency (SCID)

Answer 22

CD4 T cell deficiency

Question 23

Selective IgA Deficiency

Answer 23

Most common congenital immunodeficiency
Intrinsic B cell defect and T helper cell dysfunction
Susceptibility: Pathogens in mucosal tissues

Question 24

Leukocyte Adhesion Deficiency

Answer 24

Lack of Integrin beta-2 (CD18) on neutrophils or LFA-1 and CR3(Cd11b/CD18)
Defective migration to inflamed tissues
Susceptibility: Chronic bacterial infection

Question 25

Toxic Shock Syndrome

Answer 25

TSST/Tampons/S.aureus
Polyclonal activation of CD4 T cells
CYTOKINE STORM (and multi-organ failure)