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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
Q 
PJP
Profound neutropenia
Small tonsils/no lymph nodes
Low CD27+ T cells
High IgM
A

Hyper IgM

X-linked - CD40ligand mutation

26
Q 
Frequent infections
Short limbed dwarfism
Fine hair/eyebrows
PHx hirschprungs
Cytopenia
A

Cartilage-Hair Hypoplasia

27
Q

Immunodeficiency - bacterial/fungal/viral
Short stature
Nephropathy resistant to steroids

A

Schimke Immune-Osseous Dysplasia

28
Q

Thrombocytopenia (small sized platelets)
Strep pneumo/PJP
Eczema

A

Wiskott-Aldrich Syndrome

29
Q

Progressive ataxia
Oculocutaneous telangiectasias
Chronic sinopulmonary infections
Low Ig A,E,M and low CD3/4

A

Ataxia-Telangiectasia

30
Q

Thymic biopsy findings in ataxia-telangiectasia?

A

Hypoplastic thymus with poor organisation and no Hassle corpuscles

31
Q

Enteropathy
Autoimmune endocrinopathy - T1DM/thyroiditis
Dermatitis
Severe bacterial infections

A

IPEX
Immune dysregulation, Polendocrinopathy, Enteropathy X-linked
FOXP3 gene mutation

32
Q

Recurrent bacterial infections
Absent pus formation
Poor wound healing/delayed umbilical stump separation
Leukocytosis ++++

A

Leukocyte Adhesion Deficiency

33
Q 
Frequent infections (staph A)
Albinism/light hair
Neuropathy 
Photophobia/rotary nystagmus
Short stature
Large inclusions on nucleated blood cells (Wright stain)
A

Chediak-Higashi
85% complicated by HLH
Can manage with high dose ascorbic acid pre BMT

34
Q

Green pus

A

Myeloperoxidase Deficiency

35
Q 
Granulomas
Staph A, Aspergillosis infections
Gingivitis
Liver abscess/GI obstruction
Nitroblue test positive
A 
Chronic Granulomatous Disease
NADPH oxidase defect
Bactrim prophylaxis
Interferon gamma (unknown mechanism)
HSCT
36
Q 
Severe neutropenia in first months of life
Skin infection
Pneumonia
Peri-rectal abscess
Oral ulcers/gingivitis
A

Kostmann Syndrome

Severe Congenital Neutropenia

37
Q

Recurrent neutropenia

Fever, malaise, ulcers, pharyngitis, lymphadenopathy during neutropenia

A

Cyclical Neutropenia

38
Q

Neutropenia
Metaphyseal Dysplasia
Pancreatic insufficiency

A

Schwachmann-Diamond

39
Q

Neutropenia

Cardiomyopathy

A

Barth Syndrome

40
Q

Extreme splenomegaly

A

ALPS

Autoimmune Lymphoproliferative Syndrome

41
Q

Warts

Hypogammaglobulinaemia

A

WHIM

42
Q

Nutritional causes of neutropenia?

A

Low folate, low B12

43
Q

Immunoglobulin with longest half life, and shortest half life?

A

IgG - longest half life (28 days)

IgE - shortest half life (2 days)

44
Q

Complement responsible for transmembrane channel related cell death?

A

C 5-9

45
Q

Most common antigen sensitised in neonatal autoimmune thrombocytopenia?

A

HPA 1a

46
Q

Immunoglobulin most likely to be low in protein losing enteropathies?

A

IgG (longer half life more likely to be affected)

47
Q

Cyclosporin mechanism and SEs?

A

Calcineurin inhibitor - inhibits transcription of IL-2

SEs - gum hypertrophy, hypertrichosis, nephropathy and hyperkalaemia

48
Q

Which cells produce IL-1?

A

Macrophages

49
Q

Which cells produce IL 4 & 5?

A

Th2 lymphocytes

50
Q

Which interleukin causes T-cell proliferation?

A

IL-2

51
Q

Cryptosporidium infection and risk of cholangiocarcinoma?

A

HyperIgM

CD40 ligand deficiency

52
Q

Microcephaly
Lymphoma
Radiation sensitivity

A

Nijmegen Breakage Syndrome

53
Q

Recurrent infections
Ataxia
Low serum uric acid
T cell deficiency

A

Purine Nucleoside Phosphorylase deficiency

PNP

54
Q

Satellite dyskeratosis on skin biopsy after blood transfusion

A

Transfusion related GVHD

55
Q

Recurrent infections
Short stature
Photosensitive rash

A

Bloom Syndrome

56
Q

Which interleukin promotes eosinophil maturation?

A

IL-5

57
Q

Mechanism of fever?

A

IL-1, IL6, TNF

58
Q

IL-1 effects

A 
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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