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RACP Written Exam Cram Series > Immunology Cram > Flashcards

Immunology Cram Flashcards

1
Q

Physiologic nadir of immunoglobulins after birth?

A

6mths

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2
Q 
CD3/4?
CD3/8?
CD 19/20?
CD 16/56?
CD 45?
A 
3/4 = T helper cell
3/8 = Cytotoxic T
19/20 = B cell
16/56 = NK cell 
45 = Pan Leukocyte
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3
Q

Ix for B cell deficiency?

A

IgG, IgM, IgA and IgE levels
Isohaemagluttinin titres
Ab response to vaccines
CD 19/20

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4
Q

Ix for T cell deficiency?

A

Lymphocyte count
T subtypes (TREC for naive)
CXR for thyme size

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5
Q

Ix for complement deficiency?

A

CH50/AH50

C3 and C4 levels

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6
Q

T independant antibody production?

A

Polysaccharide antigens directly activate B cells
Results in IgM production
Children <2 do not have lasting response
EG pneumovax

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7
Q

T dependant antibody production?

A

Protein is processed and presented to CD4 Th cells which make IL-4
CD40-40 ligand stimulated and produces IgG
EG tetanus vax

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8
Q

Test for chronic granulomatous disease?

A 
NitroBlue Tetrazolium (NBT)
CGD neutrophils won't have blue cytoplasm
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9
Q

Low C3 and C4?

Low C3 but normal C4?

A

Both low - classical pathway

Low c3 only - alternative pathway (factor D< B and properdin)

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10
Q

Most common primary immunodeficiency?

A

IgA deficiency

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11
Q

Common presentations of B cell deficiency?

A
  • Recurrent bacterial sinopulmonary infections - esp polysaccharide encapsulated organisms (strep pneumonia, HiB)
  • Bronchiectasis
  • Recurrent gastro (giardia/enterovirus)
  • Enterovirus meningitis
  • FTT
  • Arthritis
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12
Q

Common presentations of T cell deficiency?

A
  • Recurrent/severe viral infections
  • Chronic candidiasis
  • Chronic diarrhoea
  • Lymphopenia in infancy (always abnormal)
  • PJP
  • GVHD (rash, LFT derangement, diarrhoea)
  • Severe neonatal eczema/seborrheic rash
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13
Q

Common presentations of phagocyte deficiency?

A
  • Poor wound healing
  • Delayed umbilical separation
  • Lymphadenitis/abscesses
  • Gingivitis/peridontitis
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14
Q

Common presentations of complement deficiency?

A
  • Angioedema
  • Lupus like syndromes
  • Neisseria meningidites infection
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15
Q 
Well until 6-9mths old
Enterovirus/strep pneumo/Hib infections
Hypogammaglobulinaemia
No B cells
Neutropenic during infection
Absent tonsils/LN
A

X-Linked Agammaglobulinaemia
Xq22-XL gene defect (codes for Bruton tyrosine kinase)
IVIG

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16
Q 
Older child
Resp infections - obstructive pulmonary disease
Lymphadenopathy
Splenomegaly
Giardia
Autoimmune disease (alopecia, scleroderma, vasculitis)
Low IgG and IgA
Poor Ab response to vaccines
A

Common Variable Immunodeficiency

IVIG

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17
Q

Recent blood product anaphylaxis
Giardia infection
PHx coeliac/allergies/autoimmune disease

A

IgA deficiency
DO NOT give IVIG as risk of anaphylaxis
If needs blood products must be washed

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18
Q

Fulminant EBV +/- HLH
B cell lymphoma
Acquired hypogammaglobulinaemia (low IgG, high IgA and IgM)
B and T cells normal range

A

X-Linked Lymphoproliferative Disease
Xq25 defect in SLAM assoc protein (SAP) leading to excessive T cell activation
Diagnosis by FISH for SAP

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19
Q

Immunodeficiency with hypocalcaemia, heart murmur
Absent thymic shadow
Low lymphocytes
Low T cells

A

DiGeorge
22q11 micro deletion - TBX1 mutation
3rd and 4th pharyngeal pouch abnormality

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20
Q

Candidiasis
Hypoparathyroidism/adrenal failure
Skin, nail, tooth enamel change

A

APECED

Autoimmune PolyEndocrinopathy Candidiasis and Ectodermal Dystrophy

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21
Q 
Eczema
Staph infection
Pneumatoceles
Retention of primary teeth
High IgE
A

Hyper IgE Syndrome
AD - STAT3 mutation “Job Syndrome”
AR - DOCK8 mutation

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22
Q 
Severe infections - candidiasis, viral infection, PJP
Chronic diarrhoea
Failure to thrive
Absent LN/tonsils
Low lymphocytes
Has B cells
Low/absent TREC
Low/absent mitogen response
A

SCID
NK +, X-linked = IL-2RG mutation
No NKs, AR = JAK3 mutation

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23
Q 
Severe infections
Alopecia
Raised IgE
No B cells
Has NK cells
A

Omenn Syndrome

RAG1/RAG2

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24
Q

SCID
No B cells
No NK cells
Rib cage anomalies and neurologic features

A

ADA deficiency SCID

25
``` PJP Profound neutropenia Small tonsils/no lymph nodes Low CD27+ T cells High IgM ```
Hyper IgM | X-linked - CD40ligand mutation
26
``` Frequent infections Short limbed dwarfism Fine hair/eyebrows PHx hirschprungs Cytopenia ```
Cartilage-Hair Hypoplasia
27
Immunodeficiency - bacterial/fungal/viral Short stature Nephropathy resistant to steroids
Schimke Immune-Osseous Dysplasia
28
Thrombocytopenia (small sized platelets) Strep pneumo/PJP Eczema
Wiskott-Aldrich Syndrome
29
Progressive ataxia Oculocutaneous telangiectasias Chronic sinopulmonary infections Low Ig A,E,M and low CD3/4
Ataxia-Telangiectasia
30
Thymic biopsy findings in ataxia-telangiectasia?
Hypoplastic thymus with poor organisation and no Hassle corpuscles
31
Enteropathy Autoimmune endocrinopathy - T1DM/thyroiditis Dermatitis Severe bacterial infections
IPEX Immune dysregulation, Polendocrinopathy, Enteropathy X-linked FOXP3 gene mutation
32
Recurrent bacterial infections Absent pus formation Poor wound healing/delayed umbilical stump separation Leukocytosis ++++
Leukocyte Adhesion Deficiency
33
``` Frequent infections (staph A) Albinism/light hair Neuropathy Photophobia/rotary nystagmus Short stature Large inclusions on nucleated blood cells (Wright stain) ```
Chediak-Higashi 85% complicated by HLH Can manage with high dose ascorbic acid pre BMT
34
Green pus
Myeloperoxidase Deficiency
35
``` Granulomas Staph A, Aspergillosis infections Gingivitis Liver abscess/GI obstruction Nitroblue test positive ```
``` Chronic Granulomatous Disease NADPH oxidase defect Bactrim prophylaxis Interferon gamma (unknown mechanism) HSCT ```
36
``` Severe neutropenia in first months of life Skin infection Pneumonia Peri-rectal abscess Oral ulcers/gingivitis ```
Kostmann Syndrome | Severe Congenital Neutropenia
37
Recurrent neutropenia | Fever, malaise, ulcers, pharyngitis, lymphadenopathy during neutropenia
Cyclical Neutropenia
38
Neutropenia Metaphyseal Dysplasia Pancreatic insufficiency
Schwachmann-Diamond
39
Neutropenia | Cardiomyopathy
Barth Syndrome
40
Extreme splenomegaly
ALPS | Autoimmune Lymphoproliferative Syndrome
41
Warts | Hypogammaglobulinaemia
WHIM
42
Nutritional causes of neutropenia?
Low folate, low B12
43
Immunoglobulin with longest half life, and shortest half life?
IgG - longest half life (28 days) | IgE - shortest half life (2 days)
44
Complement responsible for transmembrane channel related cell death?
C 5-9
45
Most common antigen sensitised in neonatal autoimmune thrombocytopenia?
HPA 1a
46
Immunoglobulin most likely to be low in protein losing enteropathies?
IgG (longer half life more likely to be affected)
47
Cyclosporin mechanism and SEs?
Calcineurin inhibitor - inhibits transcription of IL-2 | SEs - gum hypertrophy, hypertrichosis, nephropathy and hyperkalaemia
48
Which cells produce IL-1?
Macrophages
49
Which cells produce IL 4 & 5?
Th2 lymphocytes
50
Which interleukin causes T-cell proliferation?
IL-2
51
Cryptosporidium infection and risk of cholangiocarcinoma?
HyperIgM | CD40 ligand deficiency
52
Microcephaly Lymphoma Radiation sensitivity
Nijmegen Breakage Syndrome
53
Recurrent infections Ataxia Low serum uric acid T cell deficiency
Purine Nucleoside Phosphorylase deficiency | PNP
54
Satellite dyskeratosis on skin biopsy after blood transfusion
Transfusion related GVHD
55
Recurrent infections Short stature Photosensitive rash
Bloom Syndrome
56
Which interleukin promotes eosinophil maturation?
IL-5
57
Mechanism of fever?
IL-1, IL6, TNF
58
IL-1 effects
``` Fever Intimal inflammation - arthrosclerosis Osteoclasts - bone resorption Matrix enzymes - cartilage loss B-cell apoptosis - diabetes ```

RACP Written Exam Cram Series (19 decks)

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