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Year 3 - Clinical Science and Professionalism > Immune deficiency diseases > Flashcards

Immune deficiency diseases Flashcards

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1
Q

What is immunodeficiency

A

A state of suboptimal resistance to infectious disease

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2
Q

What are the two classes of immunodeficiency

A
  • primary - genetic or spontaneous
  • secondary - caused by another disease, infection or medication or others

can also be classified by which part of the immune system has failed and what pattern of infections results from the system that has failed

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3
Q

What primary diseases can lead to immunodeficiency

A

Genetic

  • severe combined immune deficiency (SCID)
  • X linked agammaglobulameima
  • Di George syndrome

Idiopathic
- common variable immune deficiency

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4
Q

What are the secondary causes that lead to immunodeficiency

A

Infections
- AIDs secondary to HIV infection

Malignant disease

  • lymphoma
  • myeloma
  • leukaemia

Metabolic disease
- diabetes

trauma

  • bruns
  • penetrating injuries

Loss of antibodies

  • nephrotic syndrome
  • intestinal lyphangectasia
  • sequestering of T cells

Medication

  • glucocorticoids
  • other immunosuppresive agents
  • cytotoxic drugs
  • irradiation
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5
Q

What is more common primary or secondary causes of immunodeficiency

A

Secondary

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6
Q

what patterns of infection do you get in B lymphocyte and antibody deficiency

A
  • Get bacterial infections that are common in all of us but are worse in those with B lymphocyte and antibody deficiency
    e. g.
  • Pneumococcus
  • haemophilus
  • staphylococcus
  • mortadella
  • streptococcus pyogenes
  • Neisseria
  • enterobacteria
  • mycoplasma
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7
Q

What are typical presentations of those who have B lymphocyte and antibody deficiency

A
  • Otitis media
  • sinusitis
  • LTRI
  • meningitis
  • septicaemia
  • septic arthritis
  • osteomyelitis
  • abscess
  • puerperal infections

these are more severe in those who have B lymphocyte and antibody deficiency

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8
Q

What is x linked agammaglobulaemia

A

“Agammaglobulinaemia” means “no antibodies”. No B-lymphocytes.
- Tends

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9
Q

What causes x linked agammaglobulaemia

A

Defective tyrosine kinase gene specific to B-lymphocytes.

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10
Q

Who is affected by x linked agammaglobulaemia

A

Boys

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11
Q

How does x linked agammaglobulaemia present

A
  • typically in the second 6 months of life with chest infections, sinusitis, otitis media and other bacterial infections
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12
Q

What happens if x linked agammaglobulaemia is not treated

A
  • get worse chest infections and you can develop bronchiectasis
  • will die in early childhood or early adulthood
  • can also get viral infections such as enterovirus, chronic meningo-encephaltis, norovirus and rhinovirus
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13
Q

How do you treat x linked agammaglobulaemia

A
  • Antibody replacement IgG- and antibiotics where necessary - this can cause the patient to have a normal lifespan
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14
Q

What happens in common variable immune deficiency

A
  • B lymphocytes ay be normal, low or absent (rare)

- antibodies are low but almost never completely absent

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15
Q

What is common variable immune deficiency associated with

A
  • Autoimmunity

- granulomatous disease such as lungs or liver

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16
Q

How do you treat common variable immune deficiency

A
  • antibody replacement
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17
Q

When can you get common variable immune deficiency

A
  • any time in your life

- both men and women

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18
Q

What do you have to have to define common variable immune deficiency

A
  • two classes of antibody must be low

- impaired test repose to immunisation - pneumovax and menitorix

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19
Q

What does the severity of common variable immune deficiency depend on

A

how deficient the antibody level is

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20
Q

What are the types of isolated antibody class deficiencies

A
  • IgA - can be low or absent with normal IgG and IgM
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21
Q

What age is IgA deficiency found

A

present from brith or develop any time

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22
Q

How does IgA deficiency present

A

Often completely healthy

- but can have increased respiratory tract or intestinal infections

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23
Q

Describe IgM deficiency

A
  • rare
  • autosomal recessive
  • consanguineous families
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24
Q

How does nephrotic syndrome cause anitbody deficiencies

A

loss in urine.

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25
Q

Name a type of Protein-losing enteropathy

A

Intestinal lymphangectasia: loss of antibodies into bowel lumen.

Nephrotic syndrome - loss in the urine

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26
Q

What cancer is more specific to antibody deficiency

A

myeloma

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27
Q

Name a drug that can cause antibody deficiency

A

Rituximab is a monoclonal antibody directed against CD 20 which specifically depletes B-lymphocytes. This may cause specific antibody deficiency.

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28
Q

What conditions cause both B cell/antibody deficiency and T lymphocyte deficiency

A
  • Malignancies lymphomas
  • cytotoxic therapy
  • radiation
  • immunosuppressive therapy such as glucocorticoids steroids
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29
Q

What infections are patients with T lymphocyte deficiencies affected by

A

Fungi - pneumocystis jeroveci (pneumonia), candida (lungs, brain, mucous membranes such as oesohagitis) , cryptoccocus, histoplasma (lungs and throughout the body), skin fungi

Protozoa: Cryptosporidium (diarrhoea). Toxoplasma (brain, eye, anywhere in body)

Viruses: Lots! Herpes viruses particularly: simplex (encephalitis & severe skin, genital lesions). Zoster: (severe shingles). CMV (hepatitis, enteritis, retinitis, encephalitis, all generally dire). Epstein-Barr (lymphomas, plus severe glandular fever). HHV 8 (Kaposi’s sarcoma. Also Molluscum. Also papoviruses: warts, ca cervix, leukencephalopathy).

Mycobacteria, especially atypical mycobacteria (lungs, spread through body)

Can also get common bacterial infections as well especially in children where T cell is required to help build up B cell memory

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30
Q

What are the primary causes of T lymphocyte deficiencies

A
  • Di George Syndrome

- Nucleoside phosphorylase and adenine deaminase deficiency

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31
Q

Where is the genetic defect in Di George syndrome

A

Deletion part of Chromosome 22, causing defects in 3rd & 4th pharyngeal arches.

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32
Q

what is the abnormality in Di George syndrome

A
  • no thymus
  • no parathyroids - hypocalcaemia present
  • great vessel abnormality
  • facial abnormalities
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33
Q

What happens in nucleoside phosphorylase and adenine deaminase deficiency which leads to T lymphocyte deficiency

A
  • enzymes specific to T lymphocytes that vary in degrees of deficiency
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34
Q

in Di George syndrome how much thymus function do you have

A

When there is complete thymus absence, will cause almost complete absence of T- lymphocytes, but is often incomplete, with some thymus function, and the T- lymphocyte function gradually improves with age.

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35
Q

What are the secondary cause of T lymphocyte deficiency

A
  • HIV causing AIDs
  • antibodies against T lymphocytes e.g. CAMPATH
  • monoclonal antibodies that block lymphocyte migration
  • immunosuppressive drugs such as glucocorticoids, azathioprine, mycophenolate, cyclosporine, tacrolimus (can also affect B cell function in the long term
  • cytotoxic drugs e.g. methotrexate
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36
Q

How is HIV transmitted

A
  • vertically from mother to child

- Horizontally via sexual intercourse, blood transfusion and blood products, infected needles

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37
Q

What T cell does the HIV virus affect most

A

CD4 T lymphocytes are the main targets of the virus

38
Q

How do you diagnose HIV

A
  • antibodies to HIV
  • p24 viral antigen
  • HIV RNA PCR
39
Q

What is the treatment of HIV

A
  • anti-retroviral treatment
40
Q

What infections do you get in neutropenia

A
  • Frequently starts as oral soreness, gingivitis, severe pharyngitis. Upper and lower respiratory tract infections
  • Soft tissue infections and abscesses.
  • Septicaemia.
41
Q

What organisms specifically take advantage during neutropenia

A

Bacteria

  • gram negative aerobic rods Pseudomonas, E.coli and other enterobacteria
  • Enterococci
  • Non-beta haemolytic streptococci
  • staphylococci - both staph aureus and coagulase negative - epidermis

Fungi

  • candida Spp
  • aspergillus spp
  • dermatophyte fungi
42
Q

What is gingivitis

A

infection of the gums

43
Q

Name some primary causes of neutropenia

A
  • cyclical neutropenia
  • severe congenital neutropenia
  • Kostmann Syndrome
  • chronic benign neutropenia
44
Q

What are ether secondary causes of neutropenia

A
  • Marrow aplasia - can be caused by drugs, irradiation and idiopathic
  • haematological malignancies such as leukaemia and lymphoma
  • marrow invasion by other malignancies such as glycogen storage disease
  • drugs - idiosyncratic response
  • drugs - cytotoxic therapy of all kinds which may affect tother haematological cells
  • autoimmune e.g. Felty syndrome and anti-neutrophil antibodies

infections

  • influenza
  • measles
  • viral hepatitis
  • CMV
  • EBV
  • HIV
  • dengue fever
  • typhoid
45
Q

Describe the genetics of chronic granulomatous disease (neutrophil function defects)

A
  • always X linked recessive therefore always in boys
46
Q

What happens in chronic granulomatous disease to generate an neutropenia

A
  • inability to initiate a respiratory burst in phagocytes thus they cannot generate superoxide to fight infections
47
Q

What does chronic granulomatous disease present (neutrophil function defects)

A
  • presents in childhood usually before 5 years old

Presents with

  • infective arthritis
  • pneumonia
  • osteomyelitis
  • abscess in organs and soft tissues
  • skin infections
  • bacteraemia
  • fungaemai
  • these often end as granulomas rather than resolving
48
Q

How do you test for chronic granulomatous disease (neutrophil function defects)

A
  • Nitroblue tetrazolium test, or dihydrorhodamine test.

- Normal phagocytes can decolourise these dyes, patients’ phagocytes can’t.

49
Q

What is the treatment for chronic granulomatous disease (neutrophil function defects)

A
  • antibiotics
  • interferon
  • Bone marrow transplant.
50
Q

Name a primary defect of neutrophil function

A
  • chronic granulomatous disease

- leukocyte adhesion deficiency

51
Q

What is the genetics of Leukocyte adhesion deficiency

A
  • autosomal recessive
  • deficiency of CD18 - normally this molecule associated with CD11 to form beta-2 integrin, a neutrophil adhesion molecule
  • without this neutrophils cannot pass through post-capillary venue walls in inflammation
52
Q

What happens in Leukocyte adhesion deficiency

A

normally this molecule associated with CD11 to form beta-2 integrin, a neutrophil adhesion molecule
- without this neutrophils cannot pass through post-capillary venue walls in inflammation

53
Q

How does Leukocyte adhesion deficiency presents

A
  • failure of the umbilical cord to slough
  • Omphalitis
  • pneumonia
  • gingivitis
  • peritonitis
54
Q

How do you test for Leukocyte adhesion deficiency

A
  • CD11/18 expression can be measured
55
Q

How do you treat Leukocyte adhesion deficiency

A

antibiotics

- bone marrow or stem cell transplant

56
Q

What can cause secondary defects in neutrophil function

A
  • Diabetes mellitus
57
Q

What infectious diseases does diabetes predispose to

A
  • UTI
  • foot infections
  • superficial fundal infections of the skin
  • disseminated candidiasis
  • rhino-pulmonary mucormycosis
  • malignant ottis due to pseudomonas
58
Q

What is the possible mechanisms by which diabetes prediposes to infectious conditions

A
  • Neutrophil function impaired
  • microcirculation impaired
  • body fluids more nutritious for bacteria because of glucose concentration
59
Q

What is the possible mechanisms by which diabetes predisposes to infectious conditions

A
  • Neutrophil function impaired
  • microcirculation impaired
  • body fluids more nutritious for bacteria because of glucose concentration
60
Q

Why are complements factors low

A
  • may be low due to genetic reasons or due to consumption
61
Q

What happens if there is significantly low C3

A

there is an increase in bacterial infection

62
Q

What happens if the classical complement pathway factors are low

A
  • you get a lupus like picture due to poor handling of immune complexes
63
Q

What happens if there is low lytic sequence complement

A
  • this gives susceptibility to capsulated organisms
    e. g.
  • meningococcus
  • pneumococcus
  • haemophilus influenzaB
  • meningitis
64
Q

What happens if the Mannose binding ligand is partially or completely deficient

A
  • This is common and often the person is completley healthy
65
Q

How do you test for complement deficient

A
  • C3 and C4 routine biochemistry test
  • alternative and classical pathway tests
  • C1q, C2, and factors H,I,B and individual lytic sequence complements can be individually measured
66
Q

What causes angioedmea

A

Bradykinin mediated

67
Q

Describe how bradykinin causes angioedema

A

C1 esterase inhibitor inhibits the classical pathway, and (more significantly) the bradykinin inflammatory cascade pathway thus when it is absent this increases the bradykinin cascade leading to angioemdea

68
Q

List the causes of angioedmea

A
  • deficiency of C1 esterase inhibitor that can be inherited or acquired

Herediatary

  • Type 1 = absence of C1 esterase inhibitor
  • type 2 = malfunction of C1 esterase inhibitor
  • type 3 = mutation of clotting factor XII which disinhibits bradykinin pathway

Acquired
- ACE inhibitors

Idiopathic

69
Q

What drug causes angioedema

A

ACE inhibitors can cause angioedema, probably through bradykinin route

70
Q

what is the treatment of angioedema caused by C1 esterase deficiency

A
  • Anabolic steroids increase secretion of C1 esterase inhibitor.
  • Tranexamic acid reduces trigger events in tissues.
  • Icatibant inhibits the bradykinin pathway.
  • C1 esterase inhibitor
71
Q

How does angioedema present

A
  • respiratory obstruction - life threatening
  • swelling of the limbs, tank
  • abdomen - can present as an acute abdomen
72
Q

How is angioedema caused naturally

A

angioedmea can also be caused by mast cells via release of histamine
- treat using antihistamine

73
Q

What are the causes splenectomy

A
  • Congenital - spelen Amy be absent or small
  • spleen is progressive infarcted in sickle cell disease
  • hyposplenism in coeliac disease
  • spleen may be removed for hereditary spherocytosis, lymphoma, hypersplenism, idiopathic thrombocytopenia, trauma
74
Q

What are the typical infections caused in splenectomy

A
  • septicaemia with encapsulated organisms
  • pneumococcus
  • haemophilus
  • meningococcus
  • capnocytophaga canimorsus - following dog bite/dogslobber
  • malaria
  • babesiosis
75
Q

What is the treatment of splenectomy

A
  • Prophylaxis - immunise patient with pneumococcal vaccine Hib vaccine and meningococcal vaccine
  • if possible splenectomy
  • Prophylactic antibiotics offered: penicillin V or macrolide
76
Q

What are the defects of anatomical innate immune system

A
  • Cystic fibrosis.
  • Bronchiectasis.
  • Urinary outflow obstruction - predispose to UTI
  • Defects in cilia: Kartagener’s syndrome, and smoking!!
  • Burns. Wounds.
  • Poor phlebotomy, catheterisation technique etc.
  • Indwelling lines
77
Q

What are combined defects

A

when the B and T lymphocytes are affected

78
Q

name the primary causes of combined defects

A

SCID (severe combined immune deficiency)

Worst is
- reticular dysgenesis

79
Q

What is reticular dygenesis

A
  • only red cells and platelets in the blood - neutrophils, monocytes, eosinophils, B and T lymphocytes are all absent
  • need to be in sterile infection until bone marrow transplant
80
Q

What is hyper IgM syndrome

A
  • very rare
  • inhered defect causing loss of signal form activated CD4 T helper cells to APC
  • B lymphocytes do not undergo class switching or somatic mutation
  • therefore you only make IgM
  • there is a lack of help for macrophages
81
Q

What type of infections can you get in hyper IgM syndrome

A
  • infections characteristic of antibody deficiency and because of lack of help of macrophages you can get pneumocystis carinii
82
Q

What causes hyper IgM syndrome

A
  • mutation of CD40 ligand on T lymphocytes is commonest cause: X linked
  • lack of CD40 is rarer, autosomal recessive
  • even rarer forms caused by defective class switching in B cells do not affect T cell function
83
Q

What is hyper IgE

A
  • this is very high IgE

- often eosinophilia present

84
Q

How does hyper IgE present

A
  • often eosinophilia
  • facial and skeletal abnormalities
  • eczema’s staphylococcal infections, candida infections,
  • pneumonia leaving cystic lesions in the lungs
85
Q

What mutation is present in Hyper IgE

A

STAT3 mutation - jobs syndrome

86
Q

describe wiskott-aldrich syndrome

A
  • X-linked.
  • Defective cytoskeletal protein found in haemopoetic cells.
  • Thrombocytopenia gives bleeding, and affects B- & T-lymphocytes, & phagocytes. Infections (ears & sinuses), lymphomas.
87
Q

What happens in Chediak-Higashi syndrome

A

Defect in moving material into lysosomes, so mostly affects phagocytes, but also affects production of cytolytic granules in T-lymphocytes & NK cells.

88
Q

How does Chediak Higashi syndrome present

A

Neutropenia. Giant inclusion bodies in leukocytes & their precursors. Partial albinism. Peripheral neuropathy.

Gram positive (esp Staph aureus)

Gram negative bacterial infections, & fungi.

End in “acellerated phase: lymphoma-like expansion of lymphocytes, which may be virally driven

89
Q

What causes ataxia telangiectasia

A

Autosomal recessive defect in DNA repair (ATM gene).

90
Q

what happens in ataxia telangiectasia

A
  • Ataxia (speech and mobility).
  • Telangectasia: whites of eyes).
  • T & B lymphocytes affected.
  • Infections (especially sinuses, lungs).
  • Lymphoma & leukaemia
91
Q

What are the combined defects secondary causes

A
  • glucoses-coricoistreoids
  • azathioprine, mycophenolate, methotrexate
  • cyclosporine, tacrolimus
  • infliximab, adalimumab
  • cytotoxic therapy
  • cancers
92
Q

What are the usual medical investigations for infection

A
  • cultures, swabs
  • viral isolation: swabs
  • HIV, hepatitis B + C
  • EBV + CMV: serology and DNA
  • imaging

Year 3 - Clinical Science and Professionalism (32 decks)

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