Immunology - general

Question 1

mild/moderate neutropenia, asymptomatic, with SNP in DARC

Answer 1

congenital benign neutropenia

Question 2

Moderate/severe neutropenia with autoimmune disease but no increased risk of infection

Answer 2

Familial (idiopathic) neutropenia

Question 3

Neutropenia that occurs every 4-6 weeks

Answer 3

Cyclic neutropenia

Question 4

Treatment for severe congenital neutropenia

Answer 4

G-CSF ± SCT

Question 5

ELA-2 mutation

Answer 5

Cyclic neutropenia

Question 6

HCLS-1 mutation

Answer 6

Kostmann syndrome

Question 7

Delayed umbilical cord sloughing, high neutrophil count, inability to make pus

Answer 7

Leukocyte adhesion deficiency

Question 8

Granulomas, hepatosplenomegaly and infection with pseudomonas or candida etc.

Answer 8

Chronic granulomatous disease

Question 9

Results for chronic granulomatous disease on testing

Answer 9

NBT: -ve (Does not turn from blue to yellow)
DHR: -ve (Does not turn from DHR to rhodamine (fluorescent))

Question 10

Treatment for chronic granulomatous disease

Answer 10

IFN-gamma

Question 11

mitochondrial AK2 mutation

Answer 11

Reticular dysgenesis

Question 12

Recurrent infection with encapsulated bacteria, auto-immune disease and chronic inflammation → may predispose to SLE

Answer 12

Classical complement pathway deficiency

Question 13

Recurrent infection with encapsulated bacteria with nephritic syndrome and partial lipodystrophy

Answer 13

Secondary C3 deficiency

Question 14

Sudden swelling of the lips and face, wheeze, erythema with no preceding trigger

Answer 14

C1 esterase/inhibitor deficiency → bradykinin mediated angioedema

Question 15

Haemolysis, thrombosis and pancytopenia

Answer 15

CD55, CD59

Question 16

Bloods show low T cells but normal B cells

Answer 16

X-linked SCID

Question 17

Bloods show low T cells, NK cells and low B cells

Answer 17

ADA deficiency (SCID)

Question 18

Bloods show low T cells and normal B cells with cleft palate, tetralogy of fallot and hypocalcaemia

Answer 18

DiGeorge Syndrome

Question 19

Low CD4, normal CD8, low IgG/A/E, normal B cells

Answer 19

Bare lymphocyte syndrome II

Question 20

recurrent infection with TB, salmonella, BCG

Answer 20

IL-12 or IFN-gamma deficiency

Question 21

Normal T cells (absence of CD40L), Normal B cells, High IgM, low IgG/A/E, no germinal centre development
Recurrent infection and infection with PCP, autoimmune diseases, malignancy

Answer 21

Hyper IgM syndrome

Question 22

Normal T cells, Normal B cells, raised IgE and IgA, low WCC and thrombocytopenia
Eczema

Answer 22

Wiskott aldrich syndrome

Question 23

Recurrent childhood infections with absence of tonsils/lymph nodes

Low B cells, low Ig

Answer 23

Bruton’s X-linked hypogammaglobulinaemia

Question 24

Recurrent respiratory tract and GI infections ± allergic disorders

Answer 24

Selective IgA deficiency

Question 25

Recurrent bacterial infections with severe end-organ damage 1. Pneumonia, persistent sinusitis, gastroenteritis Pulmonary - Bronchiectasis, ILD GI – IBD-like disease, sprue-like illness, bacterial overgrowth Autoimmune disease – AIHA, RA, pernicious anaemia, thyroiditis, vitiligo Malignancy – Non-Hodgkin Lymphoma

Answer 25

Common variable immune deficiency

Question 26

Marked reduction in IgG, with low IgA or IgM Poor/absent response to immunisation

Answer 26

Common variable immune deficiency

Question 27

functional testing for the classical complement pathway

Answer 27

CH50

Question 28

Functional testing for the alternative complement pathway

Answer 28

AP50

Question 29

Fevers lasting 48-91 hours, chest pain, abdominal pain, joint pain, rash

Answer 29

Familial mediterranean fever

Question 30

Raised CRP, amyloid A raised, MEFV gene identified

Answer 30

Familial mediterannean fever

Question 31

Diabetes, dermatitis, enteropathy, hypothyroidism

Answer 31

IPEX

Question 32

T1DM, vitiligo, Hypothyroidism, hypoparathyroidism, addison's, enteropathy, candidiasis

Answer 32

APECED

Question 33

Lymphadenopathy, hepatosplenomegaly, lymphocytosis, increased risk of lymphoma, autoimmune disease

Answer 33

ALPS

Question 34

FLAWS + cold peripheries, claudication + aortic arch involvement

Answer 34

Takayusu's arteritis

Question 35

Scalp tenderness, claudication of the jaw, temporal headache, raised ESR

Answer 35

Giant cell arteritis

Question 36

Biopsy shows transmural inflammation with skip lesions and giant cells

Answer 36

Giant cell arteritis

Question 37

low back pain and stiffness, enthesitis, large joint arthritis

Answer 37

Ankylosing spondylitis

Question 38

Droopy eyelids, weakness on repetitive activity, symptoms worse at the end of the day

Answer 38

Myasthenia gravis

Question 39

Test for myasthenia gravis

Answer 39

Tensilon test (injection of edrophonium/anti-cholinesterase)

Question 40

Haemoptysis with widespread crackles in the lungs, leg swelling, reduced urine output, microscopic haematuria + proteinuria

Answer 40

Goodpasture's syndrome

Question 41

Seizures, endocarditis, myocarditis, serositis, pleuritis, pericarditis glomerulonephritis, haemolytic anaemia, arhtiritis, discoid lupus, malar rash

Answer 41

SLE

Question 42

ANA raised, Anti-dsDNA raised, anti-ENA raised, anti-Ro, La, Sm, ELISA: lumpy bumpy with speckled appearance. C4 low → C3 low

Answer 42

SLE

Question 43

ANA positive, speckled staining, ENA, Ro, La with inflammatory infiltration and destruction of the exocrine glands

Answer 43

Sjogrens syndrome

Question 44

High calcium, hands turn white in the cold, difficulty swallowing, visible vessels

Answer 44

Limited cutaneous systemic sclerosis

Question 45

Anti-centromere

Answer 45

Limited cutaneous systemic sclerosis

Question 46

Abdo pain, SOB, High calcium, hands turn white in the cold, difficulty swallowing, visible vessels, skin involvement past forearms

Answer 46

Diffuse cutaneous systemic sclerosis

Question 47

Anti-topoisomerase/Anti-scl70

Answer 47

Diffuse cutaneous systemic sclerosis

Question 48

Anti-Jo1 (t-RNA synthetase), Mi2, SRP

Answer 48

dermatomyositis or polymyositis

Question 49

Muscle weakness with no pain, rash around the eyes with oedema, rash and erythema overlying the knuckles, rash over the scalp, erythema on the shoulders

Answer 49

Dermatomyositis