PBL CASE 10: FREQUENT INFECTIONS

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PBL CASE 10: FREQUENT INFECTIONS by Mind Map: PBL CASE 10: FREQUENT INFECTIONS

1. Immunodeficiency

1.1. Primary Immunodeficiency

1.1.1. occurs when you're born with it or it's a genetic cause

1.1.2. Examples

1.1.2.1. Wiskott-Aldrich Syndrome

1.1.2.2. SCID

1.1.2.3. DiGeorge Syndrome

1.1.2.4. Agammaglobulinemia

1.1.2.5. Ataxia telengiectasia

1.1.3. Mechanism of cell defects

1.1.3.1. B cell deficiencies

1.1.3.2. T cell deficiencies

1.1.3.3. Combined B & T cell deficiencies

1.1.3.4. Phagocyte defcects

1.1.3.5. Complement deficiencies

1.2. Secondary Immunodeficiency

1.2.1. occurs when an external source attacks our bodies

1.2.2. Examples of causes

1.2.2.1. severe burns

1.2.2.2. chemotherapy

1.2.2.3. radiation

2. Mode of inheritance of SCID

2.1. X-linked SCID

2.1.1. mutation in (IL-2R) gene on X chromosome

2.1.2. deficiency of the common Gamma chain of the T-cell receptor

2.1.3. low T and NK cells; B cells are high but they don't function

2.1.4. mostly in men

2.2. ADA deficiency

2.2.1. mutation in the gene encoding ADA

2.2.2. accumulation of adenosine results

2.2.3. low levels of T, B and NK cells

2.2.4. autosomal recessive

2.3. Deficiency of the Alpha Chain of the IL-7 receptor

2.3.1. autosomal recessive

2.3.2. mutation in the gene the encodes growth factor receptor (IL-7Ra)

2.3.3. they have B and NK cells but no T cells; B cells do not function

2.4. Deficiency of Janus Kinase 3

2.4.1. autosomal recessive

2.4.2. mutation in Jak3 gene found in lymphocytes; Jak3 is necessary for the function of common gamma chain

2.4.3. No T and NK cells, B cells present

2.5. Deficiencies of CD3 chains

2.5.1. three forms due to mutations in the genes that encode three of the individual protein chain the make up T-cell receptor complex (CD3)

2.5.2. autosomal recessive

2.6. Deficiency of CD45

2.6.1. mutation in the gene coding for CD45; a protein essential for T cell function

2.6.2. autosomal recessive

3. SCID

3.1. Symptoms

3.1.1. respiratory infections

3.1.2. ENT symptoms

3.1.3. poor growth

3.1.4. digestive symptoms

3.1.5. pneumocystis pnuemonia

3.2. What is it?

3.2.1. primary immunodeficiency disease

3.2.2. very weak immunity due to severe immune deficiency

3.3. Lab tests

3.3.1. non-confirmatory tests

3.3.1.1. newborn screening

3.3.1.2. genetic testing

3.3.2. confirmatory tests

3.3.2.1. complete blood count (CBC)

3.3.2.2. flow cytometry

3.4. Management

3.4.1. Antimicrobial drugs

3.4.2. Isolation

3.4.3. Gene therapy

3.4.4. Intravenous immunoglobulin replacement therapy

4. Hypersensitivity test

4.1. What is it?

4.1.1. performed by trained allergy specialist

4.1.2. done to determine if patient's body is allergic to certain substances

4.2. Types

4.2.1. Skin tests

4.2.1.1. skin prick test

4.2.1.2. skin injection test (intradermal test)

4.2.1.3. patch test

4.2.2. Blood test

4.2.3. Elimination diet

5. Adenosine deaminase (ADA) deficiency

6. Donor compatibility

6.1. Blood typing

6.1.1. first test

6.1.1.1. forward typing

6.1.1.2. reverse typing

6.1.2. second test

6.1.2.1. antibody screening, where the patient is tested for unexpected antibodies other than those for ABO and D antigens

6.1.3. third test

6.1.3.1. crossmatch, where the cells of the donor and the serum of the recipient are tested for any reaction

6.2. HLA testing

6.2.1. only monozygotic twins can expect a 100% match

6.2.2. if the donor is a relative, we can expect a close match.

6.2.3. if a donor is a non relative, it would be difficult to find a close match unless the recipient’s HLA markers are common

6.2.4. at least 6 HLA markers must be matched, but usually a closer match is required.

7. Graft vs. Host disease

7.1. Types of graft

7.1.1. Allograft

7.1.2. Autograft

7.1.3. Isograft

7.1.4. Xenograft

7.2. Types of rejection

7.2.1. Acute rejection

7.2.2. Hyperacute rejection

7.2.3. Chronic rejection

7.3. Symptoms

7.3.1. Acute rejection

7.3.1.1. dermatitis

7.3.1.2. hepatitis

7.3.1.3. enteritis

7.3.2. Chronic rejection

7.3.2.1. dry eyes or mouth

7.3.2.2. mouth ulcers

7.3.2.3. vaginal dryness

7.3.2.4. hair loss

7.4. Treatment

7.4.1. immunosuppressants

8. Religious aspects of organ transplantation

8.1. Jehova's witnesses

8.1.1. blood transfusions not allowed

8.1.2. bone marrow and heart transplants not allowed

8.2. Abrahamic religions

8.2.1. donor must be completely dead, both the brain and the heart must be dead.

8.2.2. it must be in complete necessity to save a life only

8.2.3. it must not cause any harm to the donors life

8.3. Hinduism & Buddhism

8.3.1. generally mixed views on the topic

9. Criteria for organ donation

9.1. Living donor

9.1.1. voulantrily

9.1.2. preferably a family relative

9.1.3. at least 18 years old

9.1.4. mentally and physically well

9.2. Deceased donor

9.2.1. no age limit

9.2.2. adequate organ infection

9.2.3. no systemic infection, HIV, most cancers