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TAS Infection And Immunity ✅ > Primary Immunodeficiency ✅ > Flashcards

Primary Immunodeficiency ✅ Flashcards

1
Q

How serious are primary immunodeficiency disorders?

A

Range from common minor and often asymptomatic disorders to severe, rare disorders

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2
Q

Give 2 examples of minor immunodeficiency disorders

A
  • Mannan-binding lectin deficiency

- Selective IgA deficiency

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3
Q

What is the incidence of mannan-binding lectin deficiency?

A

1 in 20

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4
Q

What is the incidence of selective IgA deficiency?

A

1 in 500

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5
Q

Give 2 examples of severe primary immunodeficiency disorders

A
  • Severe combined immunodeficiency (SCID)

- Chronic granulomatous disease

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6
Q

What is the incidence of SCID?

A

1 in 35,000

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7
Q

What is the incidence of chronic granulomatous disease?

A

1 in 200,000

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8
Q

What is the incidence of primary immunodeficiency disorders (PID) severe enough to require haematopoietic stem cell transplantation?

A

1 in 30,000-50,000

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9
Q

What can result from a primary immunodeficiency?

A
  • Increased susceptibility to infection
  • Autoimmunity
  • Immunodysregulation
  • Malignancy
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10
Q

What can primary immune deficiency be classified on the basis of?

A
  • Defects in innate or adaptive immunity
  • Clinical presentation
  • Age of onset
  • Spectrum of encountered pathogens
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11
Q

What organisms are patients with antibody deficiency more susceptible to?

A
  • Bacterial infection
  • Enteroviruses
  • Giardia lamblia
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12
Q

What bacterial infections are patients with antibody deficiencies more susceptible to?

A
  • Streptococcus pneumoniae
  • Haemophilus influenza
  • Pseudomonas aeruginosa
  • Mycoplasma
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13
Q

Give 4 antibody deficiencies

A
  • X-linked agammaglobulinaemia
  • Combined variable immunodeficiency
  • IgA deficiency
  • Ataxia telangiectasia
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14
Q

What is X-linked agammaglobulinaemia also known as?

A

Bruton’s disease

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15
Q

What is the pathological process in X-linked agammaglobulinaemia?

A

B cell development is blocked

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16
Q

When does X-linked agammaglobulinaemia typically present?

A

6 months - 5 years

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17
Q

How does X-linked agammaglobulinaemia present?

A

Recurrent bacterial infection

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18
Q

What is found on laboratory testing in X-linked agammaglobulinaemia?

A
  • Low IgG, IgM, and IgA
  • Absent B cells
  • Absent isohaemagglutinins
  • BTK gene mutation
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19
Q

What is the pathological process in combined variable immunodeficiency (CVID)?

A

Lack of IgG antibody production

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20
Q

When does CVID typically present?

A

2nd-4th decade of life

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21
Q

How does CVID present?

A

Recurrent bacterial, viral, fungal, and parasitic infection

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22
Q

Other than infections, what may be associated with CVID?

A

Increased risk of autoimmune disease and malignancy

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23
Q

What is found on labatory testing in CVID?

A
  • Reduced IgG
  • Occasionally reduced IgM/IgA
  • Occasionally low/dysfunctional T or B cells
  • Abnormal patterns of B cell phenotype
  • Decreased vaccine responses
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24
Q

What abnormal pattern of B cell phenotype may be found in CVID?

A

Absence of switched memory B cells

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25
Q

In what % of CVID patients is a genetic defect identified?

A

10%

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26
Q

When does IgA deficiency present?

A

> 4 years

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27
Q

How does IgA deficiency present?

A

Recurrent upper respiratory tract infections

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28
Q

Other than infection, what may IgA deficiency be associated with?

A

Increased frequency of allergies and autoimmunity

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29
Q

Can IgA deficiency be asymptomatic?

A

Yes

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30
Q

What is found on laboratory testing in IgA deficiency?

A
  • IgA absent
  • Normal IgM and IgG
  • Normal vaccine responses
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31
Q

When does ataxia telangiectasia present?

A

2nd year of life

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32
Q

How does ataxia telangiectasia present?

A

Recurrent respiratory infection

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33
Q

Other than infections, what is ataxia telangiectasia associated with?

A
  • Ocular or facial telangiectasia
  • Progressive cerebellar ataxia
  • Increased risk of leukaemia and lymphoma
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34
Q

What is found on laboratory testing in ataxia telangiectasia?

A
  • Decreased IgA
  • Increased radiation-induced chromosomal breakage in cultured cells
  • Increased alpha-fetoprotein
  • Mutations in ATM gene
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35
Q

What kind of infections do combined immunodeficiencies increase in the susceptibility to?

A
  • Bacteria
  • Viruses
  • Fungi
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36
Q

What bacteria do combined immunodeficiencies increase the susceptibility to?

A
  • Streptococcus pneumoniae
  • Haemophilus influenzae
  • Gram negative Enterobacteriae
  • Intracellular pathogens
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37
Q

What intracellular bacteria to combined immunodeficiencies increase susceptibility to?

A
  • Salmonella
  • Mycobacteria
  • Cryptosporidium
  • Pneumocystis
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38
Q

Give 5 viruses that patients with combined immunodeficiencies are more susceptible to?

A
  • Parainfluenza
  • RSV
  • Rotavirus
  • CMV
  • EBV
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39
Q

What fungi do combined immunodeficiency disorders increase susceptibility to?

A

Candida species

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40
Q

Give 6 causes of combined immunodeficiency

A
  • Severe combined immunodeficiency (SCID)
  • Omenn SCID
  • DiGeorge syndrome
  • Wiskott-Aldrich syndrome
  • X-linked hyper-IgM syndrome
  • X-linked lymphoproliferative syndrome
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41
Q

What is the problem in SCID?

A

The development of lymphocytes is blocked by genetic defects

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42
Q

When does SCID present?

A

In the first 6 months of life

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43
Q

How does SCID present?

A
  • Faltering growth
  • Persistent diarrhoea
  • Recurrent mucocutaneous candidiasis
  • Severe pneumonitis
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44
Q

What form of pneumonitis is seen in SCID?

A

Viral or PJP

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45
Q

What can happen if SCID is not recognised and managed early?

A

It is commonly fatal

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46
Q

What is found on investigation in SCID?

A
  • Lymphopenia
  • Hypogammaglobulinaemia
  • Abnormal lymphocyte subsets
  • Various genetic mutations
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47
Q

What does the lymphocyte subset seen in SCID depend on?

A

The type of SCID

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48
Q

What abnormalities may be seen in the lymphocyte subset in SCID?

A

Absent T-cells +/- B +/- NK cells

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49
Q

What genes may be mutated in SCID?

A
  • GAMMA C
  • JAK 3
  • RAG1
  • RAG2
  • IL7-RA
  • ADA
  • MHC class II
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50
Q

What is Omenn SCID?

A

SCID complicated by expansion of a few clones of T cells

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51
Q

What molecular type of SCID can develop in Omenn SCID?

A

Any molecular type

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52
Q

How does Omenn SCID present?

A
  • Severe inflammation of skin (generalised erythroderma) and gut
  • Lymphadenopathy
  • Hepatosplenomegaly
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53
Q

What is found on laboratory investigation in Omenn SCID?

A
  • T cells present but oligoclonal
  • B/NK present or absent depending on SCID type
  • Proliferation of T cells usually impaired
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54
Q

How does DiGeorge syndrome cause immune deficiency?

A

Absent/hypoplastic thymus causes T-cell deficiency

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55
Q

How severe is the immune deficiency in DiGeorge syndrome?

A

Variable, from SCID-like (complete DiGeorge) to normal (via a partial deficiency)

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56
Q

When does immunodeficiency caused by DiGeorge syndrome present?

A

Any time from neonatal period

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57
Q

How does immune deficiency caused by DiGeorge syndrome present?

A

Viral and fungal infections 1

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58
Q

What are the other features of DiGeorge syndrome?

A
  • Conotruncal cardiac defect
  • Hypocalcaemia
  • Facial dysmorphic features
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59
Q

What are the features of the hypocalcaemia seen in DiGeorge syndrome?

A

Lasts >3 weeks and requires therapy

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60
Q

What is found on laboratory investigation in immune deficiency caused by DiGeorge syndrome?

A
  • Lymphopenia
  • Lymphocyte subsets and proliferation variable
  • Genetic defects
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61
Q

What genetic defects are associated with DiGeorge syndrome?

A
  • Chromosome 22q11.2 deletion

- CHARGE syndrome

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62
Q

When does Wiskott-Aldrich syndrome present?

A

Early in infancy

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63
Q

How does Wiskott-Aldrich syndrome present?

A
  • Bleeding/bruising
  • Recurrent respiratory infections
  • HSV and EBV infections
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64
Q

What later clinical features are associated with Wiskott-Aldrich syndrome?

A
  • Bloody diarrhoea
  • Eczema in early infancy
  • Autoimmune manifestations
  • Malignancy
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65
Q

What autoimmune manifestations are associated with Wiskott-Aldrich syndrome?

A
  • Vasculitis

- Haemolytic anaemia

66
Q

What malignancies are associated with Wiskott-Aldrich syndrome?

A
  • Leukaemia
  • Lymphoma
  • EBV-driven brain tumours
67
Q

What is found on laboratory investigation in Wiskott-Aldrich syndrome?

A
  • Thrombocytopenia with small platelets
  • Abnormal polysaccharide vaccine respones
  • Abnormalities in immunoglobulins
  • T-cell number and function progressively declining
  • Genetic mutations
68
Q

What is found when measuring immunoglobulins in Wiskott-Aldrich syndrome?

A
  • Raised IgE and IgA

- Low IgM

69
Q

What genetic mutation is associated with Wiskott-Aldrich syndrome?

A

Mutation in WASP gene

70
Q

What is X-linked hyper-IgM syndrome also known as?

A

CD40 ligand deficiency

71
Q

When does X-linked hyper-IgM syndrome present?

A

In infancy

72
Q

How does X-linked hyper-IgM syndrome present?

A
  • Recurrent bacterial infections
  • Pneumocystitis jiroveci pneumonia
  • Cryptosporidium diarrhoea
  • Sclerosing cholangitis
  • Parvovirus induced anaemia
  • Faltering growth
  • Oral ulcers
73
Q

What is found on laboratory investigation in X-linked hyper-IgM syndrome?

A
  • Abnormalities in immunoglobulins
  • Lymphocyte subsets and proliferation normal
  • No CD40 ligand expression on activated T cells
  • Genetic mutations
74
Q

What abnormalities in immunoglobulins are seen in X-linked hyper-IgM syndrome?

A
  • Decreased IgG

- IgM normal or raised

75
Q

What genetic mutation is associated with X-linked hyper-IgM syndrome?

A

CD40 ligand gene mutation

76
Q

What are the types of X-linked lymphoproliferative syndrome?

A
  • XLP1

- XLP2

77
Q

What is the classical presentation of XLP1?

A

Overwhelming EBV infection (but many other triggers) results in haemophagocytic lymphohistiocytosis (HLH)

78
Q

How can XLP1 occasionally present?

A
  • Hypogammaglobulin anaemia

- Aplastic anaemia

79
Q

What is the classical presentation of XLP2?

A

Like XLP1

80
Q

How can XLP2 sometimes present?

A
  • Enteropathy
  • Arthritis
  • Other immune dysregulatory features
81
Q

What is found on laboratory testing in X-linked lymphoproliferative syndrome?

A

Immunological function tests variable, but usually low NK-cell function and often hypogammaglobulinaemia

82
Q

What genetic mutation caused XLP1?

A

Mutation in SH2D1 coding for SAP protein

83
Q

What genetic mutation is found in XLP2?

A

Mutation in XIAP (X-linked activator of apoptosis) gene

84
Q

What kind of organisms are patients with neutrophil defects more susceptible to?

A
  • Bacteria

- Fungi

85
Q

What bacteria are patients with neutrophil defects more susceptible to?

A
  • Staphylococcus
  • Pseudomonas
  • Other gram negative Enterobacteriae
86
Q

What fungi are patients with neutrophil defects more susceptible to?

A
  • Candida

- Aspergillus

87
Q

Give 3 neutrophil defects

A
  • Chronic granulomatous disease
  • Leukocyte adhesion deficiency type 1
  • Severe congenital neutropenia
88
Q

What is the defect in chronic granulomatous disease?

A

Defect of pathogen killing within macrophage

89
Q

When does chronic granulomatous disease present?

A

Usually before 5 years of age

90
Q

How does chronic granulomatous disease present?

A

Recurrent, deep-seat infections

91
Q

What infections may be seen in chronic granulomatous disease?

A
  • Liver abscess
  • Perirectal abscess
  • Lung abscecss
  • Adenitis
  • Osteomyelitis
92
Q

What other features may be present in chronic granulomatous disease?

A
  • Diffuse granulomata in respiratory/gastrointestinal/urogenital tract
  • Failure to thrive
  • Hepatosplenomegaly
  • Lymphadenopathy
93
Q

What is found on laboratory testing in chronic granulomatous disease?

A
  • Neutrophil oxidative burst absent

- Nitro blue-tetrazolium test negative

94
Q

What is the inheritance pattern of chronic granulomatous disease?

A
  • X linked in 2/3

- Autosomal recessive in 1/3

95
Q

What is the problem in leukocyte adhesion deficiency type 1?

A

Leukocyte are unable to attach to vascular endothelium and leave circulation

96
Q

When does leukocyte adhesion deficiency type 1 present?

A

Typically in the neonatal period

97
Q

How does leukocyte adhesion deficiency type 1 typically present?

A
  • Delayed umbilical cord separation

- Sepsis

98
Q

What are the other features of leukocyte adhesion deficiency type 1?

A
  • Recurrent/persistent bacterial or fungal infections with absence of pus
  • Defective wound healing
  • Periodonitis
99
Q

What is found on laboratory investigation in leukocyte adhesion deficiency type 1?

A
  • Neutrophil counts persistently above normal range
  • Leukocyte CD18 and CD15a expression <5%
  • Lack of beta-2 integrin expression
100
Q

What is the problem in severe congenital neutropenia?

A

Failure of neutrophil maturation

101
Q

When does severe congenital neutropenia present?

A

Typically in neonatal period or early infancy

102
Q

How does severe congenital neutropenia present?

A
  • Recurrent superficial or invasive bacterial and fungal infections
  • Delayed umbilical cord spseration
  • Periodonitis
103
Q

What is found on laboratory testing in severe congenital neutropenia?

A
  • Neutrophil counts persistently low
  • Bone marrow shows maturational arrest in myeloid series
  • Genetic defects
104
Q

What genetic defects may be found in severe congenital neutropenia?

A
  • ELANE
  • HAX1
  • GFI1
  • G6PC3
  • WASP
105
Q

What does the ELANE gene code for?

A

Neutrophil elastase

106
Q

What is the inheritance pattern of severe congenital neutropenia caused by mutations in the ELANE gene?

A

Autosomal dominant

107
Q

What pathogens do innate immune deficiencies increase the susceptibility to?

A

Depends on specific defect

108
Q

Give 4 innate immune defects

A
  • Complement deficiency
  • Hyper-IgE syndrome type 1
  • Autosomal recessive hyper-IgE syndrome
  • Mendelian susceptibility to mycobacterial disease
109
Q

What are patients with complement deficiency more susceptible to?

A

Severe bacterial infections with Neisseria species

110
Q

What are patients with early classical forms of complement deficiencies more susceptible to, as well as Neisseria?

A

Encapsulated bacteria

111
Q

How do classical pathway complement deficiencies present?

A

Lupus-like disease

112
Q

When do complement deficiencies present?

A

Can present at any age

113
Q

What can C1 esterase inhibitor deficiency lead to?

A

Hereditary angioedema (HAE)

114
Q

When does HAE present?

A

Mid-childhood (5-10 years)

115
Q

What laboratory tests should be done in suspected complement deficiency?

A
  • Complement function tests

- Mannose-binding lectin

116
Q

What is found on complement function tests in HAE?

A

C4 level is low

117
Q

How is HAE confirmed?

A

C1 inhibitor protein and function tests

118
Q

What is hyper-IgE syndrome type 1 also known as?

A

Job syndrome

119
Q

When does hyper-IgE syndrome type 1 present?

A

Usually before 5 years of age, but may present later

120
Q

How might hyper-IgE syndrome type 1 present?

A
  • Mucocutaneous candidiasis in infancy
  • Recurrent or persistent respiratory infections
  • Pneumatocoele formation pathological feactures
  • Scoliosis
  • Increased malignancy risk
121
Q

What are the laboratory features of hyper-IgE syndrome type 1?

A
  • Raised IgE

- Lymphocyte subsets and proliferations usually normal

122
Q

What genetic mutations cause hyper-IgE syndrome type 1?

A

Mutations in gene encoding STAT3

123
Q

What is autosomal recessive hyper-IgE syndrome also known as?

A

DOCK8 deficiency

124
Q

When does autosomal recessive hyper-IgE syndrome present?

A

Usually before 5 years, but variable

125
Q

How does autosomal recessive hyper-IgE syndrome present?

A
  • Eczema
  • Severe superficial viral infections
  • Recurrent bacterial and opportunistic infections
126
Q

What superficial viral infections may autosomal recessive hyper-IgE syndrome present with?

A
  • Papilloma virus
  • Molluscum contagiosum
  • Herpes simplex
127
Q

How is autosomal recessive hyper-IgE syndrome associated with cancer?

A

There is a high risk of squamous cell cancer

128
Q

What is found on laboratory testing in autosomal recessive hyper-IgE syndrome?

A
  • Raised IgE

- Lymphocyte studies show variably low T-cell numbers and proliferation

129
Q

What is the inheritance pattern of mutations causing hyper-IgE syndrome type 1?

A

Autosomal dominant

130
Q

What genetic abnormality causes autosomal recessive hyper-IgE syndrome?

A

Mutations in genes encoding DOCK8

131
Q

When does mendelian susceptibility to mycobacterial present?

A

Usually before 5 years of age

132
Q

How does the severity of an immune defect affect the presentation?

A

The more severe the immune defect, the earlier the child presents with features of opportunistic infections or immune dysregulation

133
Q

Why might infants with severe immune defects appear well in the early newborn period?

A

Due to protection from maternal antibodies and from breastfeeding

134
Q

What form of immune deficiency is an immunological emergency?

A

SCID

135
Q

Why is SCID an immunological emergency?

A

Very high risk of life threatening infection

136
Q

What kind of infections are children with SCID at particularly high risk of life-threatening infections?

A
  • Viral infection

- Pneumocystitis jiroveci

137
Q

Why is SCID so severe?

A

Children have no adaptive immune response

138
Q

Why can it be hard to distinguish healthy children from those with an immunodeficiency?

A

Frequent symptomatic infections are common in early childhood

139
Q

What are the warning signs for primary immunodeficiency?

A
  • 4 or more new ear infections within 12 months
  • Two or more serious sinus infections or episodes of pneumonia within 1 year
  • Infections that present atypically or with unusual severity
  • Failure of an infant to gain weight or grow normally
  • Prolonged/recurrent diarrhoea
  • Recurrent deep skin or organ abscess
  • Severe or long-lasting warts or molloscum
  • Persistent mucocutaneous candidiasis after 1 year of age
  • Episode of infection with an opportunistic pathogen
  • Complication after live vaccination
  • Need for IV antibiotics to clear infection
  • Two or more invasive infections
  • Unexplained autoimmune disease
  • Positive family history suggestive of primary immunodeficiency
140
Q

Give 4 complications that might occur after live vaccination in children with primary immune deficiency

A
  • Disseminated BCG
  • Varicella
  • Paralytic polio
  • Rotavirus
141
Q

Give 4 examples of invasive infections

A
  • Meningitis
  • Osteomyelitis
  • Pneumonia
  • Sepsis
142
Q

Give 4 examples of invasive infections

A
  • Meningitis
  • Osteomyelitis
  • Pneumonia
  • Sepsis
143
Q

Give 4 examples of invasive infections

A
  • Meningitis
  • Osteomyelitis
  • Pneumonia
  • Sepsis
144
Q

What family history might suggest primary immunodeficiency?

A
  • Relatives with infections or immunodeficiency
  • Infant deaths due to infections or unexplained
  • Consanguinity
145
Q

What is essential when evaluating a potential primary immunodeficiency?

A
  • Detailed history and clinical examination

- Family history

146
Q

Why is family history particularly important in primary immunodeficiency?

A

As primary immune deficiencies have a genetic basis

147
Q

What should examination focus on in potential primary immune deficiency?

A
  • Assessment of growth and nutrition
  • Skin
  • Nails
  • Teeth
  • Hair
  • ENT
  • Respiraotry
  • Lymphoid tissue
  • Organomegaly
  • Dysmorphism
  • Neurodevelopment
148
Q

What determines initial laboratory investigations in suspected immunodeficiency?

A

Clinical presentation and differential diagnosis based on the spectrum of infections suffered

149
Q

What initial simple investigations may be useful in suspected PID?

A
  • FBC
  • Immunoglobulins
  • Lymphocyte subsets
  • Vaccine antibody responses
150
Q

What are initial simple investigations useful for in suspected PID?

A

Confirm or rule out many forms of PID

151
Q

What is required if there is strong clinical suspicion of PID?

A

Assessment by a paediatric immunologist

152
Q

What does the specific management of primary immune deficiencies depend on?

A

The underlying syndrome

153
Q

What do prophylactic measures include in children with PID?

A
  • Avoidance of exposure to infection
  • Prophylactic antimicrobials
  • IV or SC immunoglobulin
154
Q

What is the purpose of IV of SC immunoglobulin in PID?

A

To maintain normal levels of IgG

155
Q

What is the role of immunisation in PID?

A

May be helpful in less severe immunodeficiencies, but live vaccines will be contraindicated in some conditions

156
Q

How are infections in PID managed?

A

Prompt and aggressive treatment

157
Q

What can immunodysregulatory problems in PID lead to?

A
  • Autoimmune disease

- Lymphoproliferation

158
Q

How are immunodysregulatory problems in PID managed?

A

Immunomodulatory treatments

159
Q

What immunomodulatory treatments may be used in immunodysregulatory problems in PID?

A
  • Monoclonal antibodies

- Immunosupressive drugs

160
Q

How are severe primary immune deficiencies managed?

A

Curative approach using haematopoietic stem cell transplantation

TAS Infection And Immunity ✅ (14 decks)

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