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Y5 Pathology > Immunology - general > Flashcards

Immunology - general Flashcards

1
Q

mild/moderate neutropenia, asymptomatic, with SNP in DARC

A

congenital benign neutropenia

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2
Q

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

A

Familial (idiopathic) neutropenia

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3
Q

Neutropenia that occurs every 4-6 weeks

A

Cyclic neutropenia

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4
Q

Treatment for severe congenital neutropenia

A

G-CSF ± SCT

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5
Q

ELA-2 mutation

A

Cyclic neutropenia

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6
Q

HCLS-1 mutation

A

Kostmann syndrome

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7
Q

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

A

Leukocyte adhesion deficiency

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8
Q

Granulomas, hepatosplenomegaly and infection with pseudomonas or candida etc.

A

Chronic granulomatous disease

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9
Q

Results for chronic granulomatous disease on testing

A

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

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10
Q

Treatment for chronic granulomatous disease

A

IFN-gamma

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11
Q

mitochondrial AK2 mutation

A

Reticular dysgenesis

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12
Q

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

A

Classical complement pathway deficiency

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13
Q

Recurrent infection with encapsulated bacteria with nephritic syndrome and partial lipodystrophy

A

Secondary C3 deficiency

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14
Q

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

A

C1 esterase/inhibitor deficiency → bradykinin mediated angioedema

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15
Q

Haemolysis, thrombosis and pancytopenia

A

CD55, CD59

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16
Q

Bloods show low T cells but normal B cells

A

X-linked SCID

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17
Q

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

A

ADA deficiency (SCID)

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18
Q

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

A

DiGeorge Syndrome

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19
Q

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

A

Bare lymphocyte syndrome II

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20
Q

recurrent infection with TB, salmonella, BCG

A

IL-12 or IFN-gamma deficiency

21
Q

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

A

Hyper IgM syndrome

22
Q

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

A

Wiskott aldrich syndrome

23
Q

Recurrent childhood infections with absence of tonsils/lymph nodes

Low B cells, low Ig

A

Bruton’s X-linked hypogammaglobulinaemia

24
Q

Recurrent respiratory tract and GI infections ± allergic disorders

A

Selective IgA deficiency

25
Q

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

A

Common variable immune deficiency

26
Q

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

A

Common variable immune deficiency

27
Q

functional testing for the classical complement pathway

A

CH50

28
Q

Functional testing for the alternative complement pathway

A

AP50

29
Q

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

A

Familial mediterranean fever

30
Q

Raised CRP, amyloid A raised, MEFV gene identified

A

Familial mediterannean fever

31
Q

Diabetes, dermatitis, enteropathy, hypothyroidism

A

IPEX

32
Q

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

A

APECED

33
Q

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

A

ALPS

34
Q

FLAWS + cold peripheries, claudication + aortic arch involvement

A

Takayusu’s arteritis

35
Q

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

A

Giant cell arteritis

36
Q

Biopsy shows transmural inflammation with skip lesions and giant cells

A

Giant cell arteritis

37
Q

low back pain and stiffness, enthesitis, large joint arthritis

A

Ankylosing spondylitis

38
Q

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

A

Myasthenia gravis

39
Q

Test for myasthenia gravis

A

Tensilon test (injection of edrophonium/anti-cholinesterase)

40
Q

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

A

Goodpasture’s syndrome

41
Q

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

A

SLE

42
Q

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

A

SLE

43
Q

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

A

Sjogrens syndrome

44
Q

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

A

Limited cutaneous systemic sclerosis

45
Q

Anti-centromere

A

Limited cutaneous systemic sclerosis

46
Q

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

A

Diffuse cutaneous systemic sclerosis

47
Q

Anti-topoisomerase/Anti-scl70

A

Diffuse cutaneous systemic sclerosis

48
Q

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

A

dermatomyositis or polymyositis

49
Q

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

A

Dermatomyositis

Y5 Pathology (71 decks)

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