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Block F: Immunnology > Genetics, rheum, asthma and transplantation > Flashcards

Genetics, rheum, asthma and transplantation Flashcards

1
Q

Mechanism of asthma?

A

Allergen interacts with IgE molecule on the mast cell, which lead the mast cell to degranulate and release Histamine. Histamine cause the muscles to contract and attract other cells (T- and B-lymphocytes). This muscle contraction decreases the FEV1

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2
Q

What is Scleroderma?

A

Autoimmune disease characterized by fibrosis of the skin, blood vessels and other organs (lungs, GI tract, kidneys)

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3
Q

Diagnosis of asthma? (3)

A

Asthma: reversible obstructive airway disease
Diagnosis:
- Increase of 12% change in FEV1 after inhaled bronchodilator
- Decrease of 20% change in FEV1 after inhalation of methacholine or histamine
- Decrease of 15% following standardized exercise challenge

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4
Q

Prevention of GVHD following blood transfusion?

A

Irradiation of fresh blood products to inactivate T lymphocytes

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5
Q

What are the symptoms of Sclorederma? (2)

A

 CREST syndrome

 Raynaud’s phenomenon

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6
Q

What is DiGeorge Syndrome?

A

Deletion 22q11, in the region of gene 6 (use FISH or microarray!)/microdeletion in chromosome 22

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7
Q

Treatment of Familial Mediterranean Fever?

A

Colchicine: prevents inflammatory attacks and the deposition of amyloid by interfering with tubulin/microtubules. This reduces the number of WBC traveling to inflamed areas

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8
Q

What occurs with graft vs host disease?

A
  • Graft attacks the host (GVHD): Donor T-lymphocytes attack host following interaction with human leukocyte antigens (HLA) expressing peptides: HLA I, and HLA II (encoded by MHC)
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9
Q

MHC class II matching is essential for what transplants?

A

Bone marrow transplant

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10
Q

Clinical manifestations of GVHD following blood transfusion? (5)

A 
	Skin rash
	Fever
	Diarrhea, gut dysfunction
	Pancytopenia (bone marrow aplasia)
	Hepatitis
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11
Q

Mechanism of GVHD following solid organ transplant?

A

Immune-mediated or large number of immune competent cells in the graft are transplanted into the pharmacologically immunosuppressed recipient

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12
Q

What are the treatments for asthma? (3)

A
  • Anti-inflammatory: steroids
  • Anti-mediators: antihistamines, antileukotrienes (you must target both IL-4 and IL-13)
  • Anti-IgE: Omalizumab
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13
Q

Why is bone marrow not affected in GVHD following an allogeneic stem cell transplant?

A

 Bone marrow is not affected; no pancytopenia. This is because there’s no recipient bone marrow cells, so the graft cells are the only cells there

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14
Q

What is Systemic Lupus Erythematosus?

A

Systemic autoimmune disease characterized by immune complex deposition in the affected organs

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15
Q

Mechanism of GVHD following blood transfusion?

A

Rare attack on recipient tissues by T lymphocytes in the transfused product

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16
Q

Treatment for GVHD following solid organ transplant?

A

Systemic steroids

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17
Q

Criteria for diagnosis for Systemic Lupus Erythematosus?

A

Criteria are not for diagnosis! Only for studies! Diagnosis is based on expert opinion

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18
Q

MHC class I matching is essential for what transplants?

A

Solid organs (especially kidneys)

19
Q

Risk factors of GVHD following an allogeneic stem cell transplant? (6)

A 
	Matched unrelated donor
	Mismatched related donor
	Mismatched unrelated donor
	Mobilized blood cell graft
	Total body irradiation
	Patient and donor age
20
Q

Mechanism of Familial Mediterranean Fever?

A

Familial Mediterranean Fever: hereditary inflammatory disorder due to mutation in MEFV gene (16p13.3)
MEFV codes for Pyrin, which is responsible for deactivation of inflammation during immune response. Mild infection will thus trigger intense immune response and inflammation

21
Q

What is Sjogren’s Syndrome?

A

Sjogren’s Syndrome: autoimmune disease affecting the exocrine glands (no saliva)

22
Q

Types of cutaneous manifestations of Systemic Lupus Erythematosus? (3)

A
  • Malar Rash: butterfly distribution of non-scaring rashes around the nose
  • Subacute cutaneous lupus erythematosus: non-scaring, photosensitive either of annular form or papulosquamous
  • Discoid rash: scarring and depigmentation rash that affect the dermis
23
Q

What is Mixed connective tissue disease?

A

Manifestations similar to all other connective tissue diseases (Systemic lupus erythematosus, Scleroderma, Sjogren’s syndrome, Inflammatory arthropathies, Inflammatory myositis, Systemic vasculitis)

24
Q

Test for inflammatory markers? (2)

A
  • Erythrocyte sedimentation rate

- C-reactive protein

25
Q

What are the Billigham’s crieteria for GVHD? (3)

A
  • Graft must contain immunologically competent donor cells
    o Donor T-lymphocytes attack host following interaction with human leukocyte antigens (HLA) expressing peptides: HLA I, and HLA II (encoded by MHC)
  • Host must be unable to reject/eliminate the donor cells of the graft
    o Host must be immunosuppressed, so it can’t stop the immune attack or host must be genetically similar to the donor so that it can’t recognize the donor as ‘non-self’, and so doing, can’t reject the donor cells
  • Host and graft must antigenically different from each other
    o Host must express tissue antigens that are nor present in the donor and thus can be recognized as foreign (these differences occur at the level of histocompatibility antigens)
26
Q

Specific clues indicating autoimmune diseases? (6)

A
  • Arthritis
  • Skin rashes
  • Mucosal ulcers
  • Ocular symptoms
  • Lung involvement
  • Renal dysfunction
27
Q

Symptoms of Familial Mediterranean Fever? (6)

A

Symptoms (during an attack):

  • Recurrent fever
  • Peritonitis
  • Pleurisy
  • Painful, swollen joints
  • Characteristic ankle rash
  • Possible amyloidosis, which can lead to renal failure
28
Q

What are the symptoms of Sjogren’s Syndrome? (3)

A

 Xerostomia (dry mouth)
 Xerophthalmia (dry eyes)
 Produce anti-RO (SSa) and anti-La (SSb) autoantibodies

29
Q

Occurrence of Familial Mediterranean Fever?

A

Autosomal recessive

30
Q

Risk factors of GVHD following solid organ transplant? (2)

A

 HLA-mismatch between donor and recipient

 Age

31
Q

What is the role of IL-4 and IL-13 in asthma?

A

IL-4 and IL-13 are essential to asthma pathophysiology since they participate in the making of IgE

32
Q

Occurence of DiGeorge Syndrome?

A

Autosomal dominant

33
Q

Population of Systemic Lupus Erythematosus?

A

Population: mostly women of child-bearing age (16-55yrs)

34
Q

Risk factors of GVHD following blood transfusion? (8)

A 
	Immune suppressed
•	Stem cell transplant recipients
•	Congenital T cell deficiencies
•	Aplastic anemia deficiencies
•	Chemo patients
	Premature neonates
	Granulocyte transfusion recipients
	Some hematologic malignancies (Hodgkin lymphoma)
	Receiving blood from a relative, homozygous donor
35
Q

Types of autoimmune rheumatic diseases? (7)

A
  • Inflammatory arthropathies
  • Inflammatory myositis
  • Systemic vasculitis
  • Systemic Lupus Erythematosus
  • Scleroderma
  • Sjogren’s Syndrome
  • Mixed Connective tissue disease
36
Q

Dysmorphic features of DiGeorge Syndrome? (4)

A
  • Telecanthus
  • Puffy eyelids
  • Wide nasal bridge
  • Small mouth
37
Q

Treatment for GVHD following an allogeneic stem cell transplant?

A

 For chronic GVHD: systemic steroids with local care

38
Q

What is a rheumatic disease?

A

Rheumatic disease: a disease resulting from a disordered immune reaction in which there is an antibody of cell mediated attack against one’s own tissues

39
Q

What is Familial Mediterranean Fever?

A

Hereditary inflammatory disorder due to mutation in MEFV gene (16p13.3)

40
Q

What are the symptoms of GVHD following an allogeneic stem cell transplant? (5)

A

 Rash
 Nail dystrophy
 Liver: Cholestasis and hepatitis
 Gut: Anorexia, nausea, vomiting, diarrhea
 Bone marrow is not affected; no pancytopenia. This is because there’s no recipient bone marrow cells, so the graft cells are the only cells there

41
Q

Symptoms of DiGeorge Syndrome? (7)

A
  • Parathyroid hypoplasia
  • Hypocalcemia
  • Heart malformation: Tetralogy of Fallot, ventricular septal defect
  • Psychiatric disorders: schizophrenia, anxiety, depression
  • Thymus hypoplasia: this can cause immune deficiencies
    o Cytopenia
    o Thrombocytopenia
    o Rheumatoid arthritis
    o Asthma
42
Q

Symptoms of Systemic Lupus Erythematosus? (7)

A

 Production of ANA antibodies
 Mucosal ulcers
 Inflammatory arthritis (can come with Jacoud’s Arthropathy)
 Lupus nephritis
 Serositis: shortness of breath, pleuritic chest pain, fluid accumulation between the heart and the lining of the heart
 Hematological problems: anemia, thrombocytopenia, leukomia and lymphopenia
 Cutaneous manifestations

43
Q

What are the symptoms of mixed connective tissue disease? (3)

A

 Raynaud’s phenomenon is common
 Lung involvement is common
 Production of anti-RNP antibody

44
Q

Clinical manifestations of GVHD following solid organ transplant? (4)

A

 Skin rash
 Fever
 Diarrhea, gut dysfunction
 Pancytopenia (bone marrow aplasia)

Block F: Immunnology (9 decks)

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