Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

FRACP Paediatrics > Immunology > Flashcards

Immunology Flashcards

1
Q

Describe Bloom syndrome.

A
  • autosomal recessive mutation BLM 15q26.1
  • Disorder with increased risk of malgnancy (leukaemia, lymphoma and GI tract).
  • Short stature and develop an erythematous photosensitive rash in the first 2 years.
  • Mild immune deficiency with increased susceptibility to infections.
  • Prevalent among the Ashkenazi Jewish population
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are the primary immunological defects of the phagocytic system?

A
  • Neutropenia: Most forms are autosomal dominant (apart from Kostmann and Schwachman-Diamond). Bone marroe shows immature precursors.
  • Leukocyte adhesion defects: defect in b chain of CD 18. Prevents migration of neutrophils to site of infection. Delayed cord detachment, high peripheral neutrophils and no pus at sit of infection.
  • Chronic granulomatous disease: X-linked or autosomal dominant. Neutrophils unable to produce superoxide hampering intracellular killing.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What immunodeficiency is associated with recurrent Neisseria infection?

A

Complement particularly the terminal components C5-C9.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Apart from bacterial infection what are patients with complement deficiency predisposed to?

A

Autoimmune disorders.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Deficiency of what immunoglobulin subclass is associated with poor response to polysaccharide vaccinations and polysaccharide encapsulated bacteria?

A

IgG2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Describe Omenn syndrome.

A
  • Recombinase activating gene 1 (RAG1) defect.
  • Variant of SCID.
  • T- B- NK+
  • Recurrent infections, exudative erythroderma, lymphadenopathy, hepatosplenomegaly, chronic persistent diarrhoea and FTT.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Describe Wiskott Aldrich syndrome.

A
  • X-linked.

- Eczema, recurrent infections and microthrombopenia.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Describe Netherton syndrome.

A
  • Trichorrhexis invaginata also known as bamboo hair is pathognomic.
  • Severe disorder of cornification.
  • Caused by SPINK5 mutation.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are the actions of IL1 and IL2?

A
  • Produced by macrophages and polymorphs.
  • Target effect on T/B/NK cells.
  • Cause proliferation, differentiation and class switching.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

In what conditions is ANA positive?

A
  • Elevated in SLE.
  • 40-85% of children with JIA with oligo or polyarticular involvement, less common in systemic onset.
  • Associated with increase risk of chronic uveitis.
  • General population.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

In what conditions is ENA positive?

A
  • SLE.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

In what conditions is HLA B-27 positive?

A
  • Enthesis related arthropathy.

- Ankylosing spondylitis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

In what conditions is rheumatoid factor positive in?

A
  • JIA.
  • Adult RA.
  • SLE.
  • HIV.
  • Hepatitis.
  • Leukaemia.
  • Lymphoid malignancies.
  • Pulmonary fibrosis.
  • General population.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Discuss features of ankylosing spondylitis.

A
  • Presents with SEA
  • -> rheumatoid factor Seronegativity.
  • -> Enthesitis - around foot and knee.
  • -> oligoArthritis - legs > arms esp. hips, SI joint and axial skeleton.
  • Expect elevated inflammatory markers at diagnosis in ankylosing spondylitis.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Which immune cell population is responsible for cellular rejection in organ transplantation?

A
  • T cells - Transplant failure.
  • Acute rejection is a cell mediated hypersensitivity reaction involving CD8 cell attack on graft cells whose MHC antigen has been upregulated by IFN gamma.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the most common genetic mutation in X-linked chronic granulomatous disease?

A
  • gp91phox.

- Defect in phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase.

17
Q

What is the most common gastric pathogen in CVID?

A
  • Giardiasis causes malabsorption and weight loss along with periodic abdominal pain.
  • Giardia has epilsoid cysts most commonly seen in solid stool or kite shaped multiflagelate trophozoites - more commonly seen in loose stool.
18
Q

Which antigen presenting cell is actively phagocytic and resides in peripheral sites?

A
  • Dendritic cells.

- Reside in peripheral sites such as the skin, intestinal lamina propria and lungs.

19
Q

What mutation is responsible for X-linked hyper IgM syndrome?

A
  • Mutation in CD40L on surface of T cells.

- Impairs ability to interact with CD40 in B cells and allow class switching of antibodies –> only IgM produced.

20
Q

What are clinical fetures of X-linked hyper IgM syndrome?

A
  • Present with recurrent otitis media, pneumonia and sinusitis.
  • Develop opportunistic infections - PCP, toxoplasmosis and chronic diarrhoea from giardia and cryptosporidium.
  • Very low IgG and IgA with normal to elevated IgM.
21
Q

What mutation is the cause of X-linked SCID?

A
  • Mutation in comon gamma chain of the IL-2 receptor.

- Die in infancy without bone marrow transplant.

22
Q

What are the features of Wiskott-Aldrich syndrome?

A
  • X-linked.
  • Thrombocytopenia with small platelets, combined immunodeficiency, eczema, autoimmune disease and increased risk of malignancy.
23
Q

What infection are children with properdin deficiency susceptable to?

A
  • Meningococcal infection.
24
Q

What are cytokines typically expressed by TH1 cells?

A
  • IFN gamma, IL2, IL12, GM-CSF, TNF a/b, IL18
25
Q

What are cytokines typically expressed by TH2 cells?

A
  • IL4, IL5, IL6, IL9, IL10
26
Q

What are cytokines typically released by Treg cells?

A
  • IL10, TGF b (both anti-inflammatory).
27
Q

What is the most common cause of CGD?

A
  • X-linked (65%).
  • CYBB gene which codes for gp91phox.
  • Inability to create reactive oxygen species from NADPH.
  • Next most common mutations - p47phox, p67phox and p22phox.
28
Q

What HLA type has been associated with narcolepsy with cataplexy?

A
  • HLA-DR3
29
Q

What mutation gives amgammaglobulinaemia?

A
  • Brutins tyrosine kinase.
30
Q

What mutation gives X-linked hyper Ig M?

A
  • CD40L.
31
Q

What cell lines are mission in gamma c SCID?

A
  • T-, B+, NK-
32
Q

What cell lines are missing in ADA SCID?

A
  • T- B+, NK+/-
33
Q

What cell lines are missing in RAG1/2 SCID?

A
  • T-, B-, NK+
34
Q

What cell lines are mission in IL-7R alpha SCID?

A
  • T-. B+, NK+
35
Q

What type of SCID is X-linked?

A
  • Common cytokine receptor chain gamma.
36
Q

What types of SCID are autosomal recessive?

A
  • Jak3 and ADA.
37
Q

What non-immune issues are seen in children with ADA SCID?

A
  • Ribcage abnormalities (similar to rachitic rosary), Numerous skeletal abnormalities and chondoosseous dysplasia.

FRACP Paediatrics (16 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions