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Immunology > Immunodeficiency > Flashcards

Immunodeficiency Flashcards

1
Q

Which immunodeficiency in common? primary or secondary?

A

Secondary immunodeficiency (due to disease or medication)

(It is encountered by physician on a daily basis in routine practice)

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2
Q

What are the pattern of infection in immunodeficiency?

A
  • Neutrophil defects
  • Complement deficiency
  • B cell/antibody deficiency
  • T cell deficiency
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3
Q

Primary Immunodeficiency: Classification >> Major categories

A
  • Neutrophil disorders/deficiencies
  • Complement deficiencies
  • B cell/antibody disorders/deficiencies
  • T cell disorders/deficiencies
  • Combined B & T cell disorders/deficiencies
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4
Q

Primary immunodeficiency: Neutrophil defects

A

Mnemonic ‘CCL’

  • Chronic granulomatous disease
  • Chediak-higashi syndrome
  • Leukocyte adhesion deficiency
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5
Q

Primary immunodeficiency: complement defects

A

The most importants are >>

  • C1q deficiency
  • C1INH deficiency
  • Final common pathway defects
  • & many others
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6
Q

Primary immunodeficiency: B cell/Antibody disorders

A

​Mnemonic ABC

  • IgA** deficiency**
  • Bruton’s congenital agammaglobulinaemia
  • Common variable immunodeficiency (CVID)
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7
Q

Primary immunodeficiency: T-cell defects

A

DiGeorge syndrome

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8
Q

Secondary immunodeficiency >> Example by categories

A
  • Neutrophil defect:
    • Diabetes mellitus
  • Complement deficiency:
    • Eculizumab therapy
  • B cell/ Antibody defect:
    • Chronic lymphocytic leukaemia (CLL)
    • Rituximab
    • Phenytoin
    • Gold
  • T-cell defect:
    • HIV infection
    • Ciclosporin
    • Anti-CD3 therapy
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9
Q

Primary immunodeficiency: Combined B and T cell defects

A

Mnemonic: SCID WAS Ataxic

  • SCID (Severe combined Immunodeficiency)
  • Ataxia Telangiectasia
  • Wiskott-Aldrich syndrome
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10
Q

Neutrophil defects are associated with-?

A

Recurrent bacterial or fungal skin infection (Cellulitis/Abscess)

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11
Q

Neutrophil defects: Examples

A
  • Primary: CCL
    • Chronic granulomatous disease
    • Chediak-higashi syndrome
    • Leukocyte adhesion deficiency
  • Secondary: Diabetes mellitus
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12
Q

Complement deficiency: identification

A

It may be uncovered incidentally (as NOT always symptomatic)

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13
Q

The most important clinical association with complement deficiency-?

A
  • Hereditary angioedema (C1-inhibitor deficiency)
  • SLE (C1q deficiency)
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14
Q

What does happen if there is “final common pathway” defect?

A

Recurrent/invasive Neisseria spp. infections

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15
Q

Complement deficiency: Examples

A
  • Primary:
    • C1q deficiency
    • C1-INH deficiency
    • ‘final common pathway’ deficiencies
  • Secondary: Eculizumab treatment
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16
Q

Eculizumab >> mechanism

A

C5 inhibitor

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17
Q

Eculizumab >> Indication

A

PNH (Paroxysmal nocturanl haemoglobinuria)

(Its a complement mediated RBC cell lysis)

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18
Q

Eculizumab: Main side-effect

A

Secondary complement deficiency

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19
Q

B-cell/antibody deficiency >> results in??

A
  • Sinopulmonary infections
  • Bronchiectasis
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20
Q

B-cell/antibody deficiency: Examples

A
  • Primary ABC
    • Selective IgA deficiency
    • Bruton’s agammaglobulinemia
    • ​Common variable immunodeficiency
  • ​Secondary
    • ​Chronic lymphocytic leukaemia (CLL)
    • Rituximab
    • Gold
    • Phenytoin
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21
Q

Chronic Granulomatous Disease: Inheritance

A

Variable pattern of penetrance

Mainly X-linked recessive

22
Q

Which is more common between IgA deficiency and IgG2 deficiency?

A

Primary IgA deficieny is more common than IgG2 deficiency in population

23
Q

IgA deficiency: main pathophysiology

A

Maturation defect of B cell

24
Q

IgA deficiency: Features

A

NO sign-symptoms

can cause bronchiectasis

25
Q

Time period of >>

Bruton’s congenital agammaglobulinaemia

Common variable immunodeficiency (CVID)

A
  • Bruton’s agammaglobulinaemia: within 1st 18months
  • CVID: late teenage
26
Q

Bruton’s congenital agammaglobulinaemia: Inheritance

A

X-linked recessive

27
Q

Bruton’s congenital agammaglobulinaemia: pathophysiology

A
  • Mutation in Bruton’s kinase
  • Defective maturation of B cell ( = NO/less formation of plasma cells = less Ig production)
  • Immunoglobulin (Ig) deficiency
28
Q

Common variable immunodeficiency (CVID): manifestations

A
  • Impaired function of antibody response >>> recurrent sino-pulmonary infections
  • 2 or more Ig are reduced among >>> IgA, IgM, IgG
    • More common: IgA reduction
    • More reduced: IgG (than IgM)​
  • ​No sign-symptoms
29
Q

T-cell deficiency >> results in-?

A

The following opportunistic infections

  • Pneumocystis jirovecii
  • Invasive virus (e.g. CMV: Cytomegalovirus)
  • Intracellular bacteria (e.g. Salmonella)
  • Mycobacteria
30
Q

T-cell deficiency: Examples

A
  • Primary
    • ​DiGeorge syndrome
  • ​Secondary
    • ​HIV infection
    • Cyclosporin
    • Anti-CD3 therapy
  • ​Combined B + T cell deficiencies (primary) Mnemonic: SCID WAS Ataxic
    • Severe combined immunodeficiency (SCID)
    • Wiskott-Aldrich syndrome
    • Ataxia telangiectasia
31
Q

DiGeorge syndrome >> type of genetic disorder

A

Microdeletion syndrome

32
Q

DiGeorge syndrome: type of infections

A

Viral and fungal infections (high risk)

(As it is a T-cell defect)

33
Q

DiGeorge syndrome: genetic defect

A

Chromosome 22 deletion (chromosome 22q11 anomaly)

34
Q

DiGeorge syndrome: Features

A

Above downwards

  • Learning disabilities
  • Hypertelorism (increased distance between 2 orbits)
  • Abnormal ear
  • Cleft palate, short philtrum
  • Micrognathia
  • Maldevelopment of pharyngeal pouch
  • NO parathyroid development >>> hypocalcaemia >>> tetany
  • NO development of normal thymus
    • Normal B cell (rests are low)
    • Reduced T cell production
    • Reduced IgG response
    • Reduced IgA response
  • Congenital heart disease
  • Defect in great vessels
  • Hypocalcaemia (low calcium level)
35
Q

Combined B-cell and T-cell disorder: Inheritance

A
  • Severe combined Immunodeficiency (SCID): X-linked recessive
  • Wiskott-Aldrich syndrome: X-linked recessive
  • Ataxia telangiectasia: Autosomal recessive
36
Q

SCID (Severe combined Immunodeficiency): Enzyme defect

A

Reduced ADA (Adenosine deaminase) enzyme

37
Q

SCID (Severe combined Immunodeficiency): Pathophysiology

A

ADA (Adenosine deaminase enzyme) normally converts >>>

  • Deoxyadenosine to deoxynosine (AND, also)
  • Adenosine to inosine

​In SCID >>> reduced ADA >>> so,

  • High deoxyadenosine, low inosine etc.

​>>> deoxyadenosine is toxic to lymphocytes (both B and T cells) [especially immature T cells of thymus]

38
Q

Wiskott Aldrich Syndrome: gender ratio

A

Mainly male (as X-linked recessive)

39
Q

Type of Immunoglobulin deficiency in Wiskott-Aldrich syndrome and Ataxia telangiectasia

A
  • Wiskott-Aldrich syndrome >>> IgG, IgM deficiency
  • Ataxia telangiectasia >>> IgA deficiency
40
Q

Wiskott Aldrich syndrome and Ataxia telagiectasia: Common features

A
  • Recurrent chect infections
  • Haematological malignancy (lymphoma, leukaemia, non-lymphoid tumours)
  • Melignancy
41
Q

Wiskott Aldrich syndrome: genetic defect

A

mutation in “WASP” gene

42
Q

Wiskott Aldrich syndrome: Features

A
  • Thrombocytopaenia
  • Low IgG, Low IgM
  • Humoral immunodeficiency
  • Recurrent chect infections
  • Severe bacterial infection
  • Eczema
  • Autoimmunity
  • Malignancy
  • Haematological cancer (leukaemia, lymphoma etc.)
43
Q

Wiskott Aldrich syndrome: Life expectancy

A

6 to 30years

44
Q

Wiskott Aldrich syndrome: Main cause of death

A

Bleeding (maybe due to thrombocytopaenia)

45
Q

Ataxia telangiectasia: Features

A
  • 10% risk of developing maligancy
    • Lymphoma
    • Leukaemia
    • Non-lymphoid tumours
  • Recurrent chest infections
  • Low IgA
46
Q

Job syndrome >> Another name?

A

Hyper-IgE syndrome

47
Q

Job syndrome is named after whom?

A

It is named after Job in the Bible

who was plaged with boils

48
Q

Job syndrome: pathophysiology

A

Failure of intracellular signalling in JAK-STAT pathway >>> Multiple immune failures >>> both: innate & adaptive responses

49
Q

Job syndrome: Clinical features

A

Mnemonic: FATED

  • Facies: Coarse or leonine
  • Abscess: Cold abscess by staphylococcus spp.
  • Teeth: Retention of primary teeth
  • E: High IgE
  • Dermatological problems: Eczema

Manifestations are heterogenous ​

It is one of the very few diseases that is associated with >>> Cryptococcus pneumonia (Cryptococcus neoformans)

50
Q

Job syndrome: 2 main organisms & their manifestations

A
  • Staphylococcus spp. >>> cold abscess
  • Cryptococcus neoformans >>> Cryptococcal pneumonia
51
Q

Why is Job syndrome important regarding pathophysiology?

A

It has failue in ‘intracellular signalling’ in the JAK-STAT pathway

& JAK-STAT pathway has been earmarked as the next major immune pathway to inibit in the treatment of autoimmune diseases

52
Q

JAK inhibitor >> Indication

A

Cryptococcal pneumonia

FDA licensed the first JAK inhibitor in 2012

Immunology (16 decks)

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