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MRCPCH Clinicals > Immunology > Flashcards

Immunology Flashcards

1
Q

Features of Wiskott-Aldrich

A

T cell immune deficiency, Thrombocytopenia, Eczema, X linked

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2
Q

Features of DiGeorge syndrome

A

Heart, palatal and facial defects, absent thymus hypocalcaemia

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3
Q

Cause of DiGeorge syndrome

A

Deletion of section of chromosome 22 causing maldevelopment of 5th branchial arch

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4
Q

Features of Duncan syndrome

A

X-linked lymphoproliferative disease - unable to respond to EBV, either die of the infection or develop secondary lymphoma

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5
Q

Features of ataxia telangiectasia

A

T cell defects, defect in DNA repair, increased risk of lymphoma, cerebellar ataxia, developmental delay

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6
Q

What is the defect in Bruton agammaglobulinaemia

A

X linked; abnormal tyrosine kinase gene, which is needed for B cell maturation

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7
Q

Features of selective IgA deficiency

A

Most common primary immune deficiency; asymptomatic or recurrent ear, sinus, pulmonary infections

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8
Q

What is the defect in chronic granulomatous disease

A

Neutrophil phagocytosis - failure to produce superoxide after ingestion of microorganisms

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9
Q

What are the features of chronic granulomatous disease?

A

Recurrent bacterial infections
Poor wound healing
Invasive fungal disease
Granulomas from chronic inflammation

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10
Q

What is the defect in leukocyte adhesion deficiency?

A

Deficiency of neutrophil surface adhesion molecules, CD18 and CD11b - neutrophils are unable to migrate to sites of infection/inflammation

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11
Q

What are the features of leukocyte adhesion deficiency

A

Delayed separation of umbilical cord
Delayed wound healing
Chronic skin ulcers
Deep seated infections

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12
Q

What are the features of complement defects

A

Recurrent bacterial infections
SLE like illness
Recurrent meningococcal infections

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13
Q

What is the defect in hereditary angioedema?

A

Deficiency of C1 inhibitor leads to spontaneous activation of classic complement pathway and kinin-releasing syndrome

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14
Q

What is the defect in Duncan disease?

A

defect of SLAM associated protein which is involved in T cell stimulation

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15
Q

Which cells have defects in X-linked lymphoproliferative disease?

A

CD8+, NK cell and T cells

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16
Q

What are the clinical features of X-linked lymphoproliferative disease?

A

Fulminant mono
Lymphoma
Dysgammaglobulinaemia
Aplastic anaemia

17
Q

What are the features of IPEX?

A

Onset in infancy
Immunodysregulatory syndrome with a triad of:
○ Enteritis
○ Endocrinopathy
○ Dermatitis
Can also have cytopenia, glomerulonephritis, hepatitis
Susceptible to bacteria, viral and fungal infections
High rate of mortality - most die before 2 years without HSCT

18
Q

What is the defect in Chediak-Higashi?

A

Lysosome-related organelle disorder

19
Q

What are the clinical features of Chediak-Higashi?

A

Immunodeficiency
Neurological: weakness, ataxia, peripheral neuropathy, progressive neurodegeneration
Hypopigmentation: oculocutaneous albinism
Accelerated phase with haemophagocytosis, lymphocyte and monocyte infiltration of tissues, often fatal

20
Q

Who is more likely to get SCID?

A

Males affected more than females because X-linked SCID caused by common gamma chain deficiency is the most common form; the remaining forms are autosomal recessive

21
Q

When does classical SCID present?

A

6-7 months

22
Q

What are the clinical features of classical SCID?

A 
Respiratory infections
Diarrhoea and faltering growth
Oral thrush and perineal candidiasis
BCG complications
Disseminated viral infections
Skin rash
Absent lymphoid tissues
23
Q

What is Omenn syndrome?

A

A kind of SCID - Exaggerated inflammatory response caused by emergence of oligoclonal T cell populations, often autoreactive. Clonally expanded T cells then infiltrate tissues

24
Q

What are the clinical features of Omenn syndrome?

A

Skin - erythroderma, thickened and leathery skin, hair loss
Gut - chronic diarrhoea, protein loss leading to oedema
Reticuloendothelial system - lymphadenopathy, hepatosplenomegaly

25
Q

What is the defect in Omenn syndrome?

A

Most frequently occurs with RAG1 or RAG2 deficiency, in which B cells are absent

26
Q

What is maternofetal engraftment in SCID?

A

Patients with SCID don’t have functional T cells so can’t reject foreign lymphocytes
Maternal T lymphocytes that cross the placenta engraft in the infant, mediating a graft vs host process
Presents as morbiliform erythroderma or papular dermatitis

27
Q

What is the common defect in Wiskott-Aldrich?

A

deficiency in WASP protein which leads to global aberration in innate and adaptive immunity

28
Q

What are the features of ataxia telangiectasia?

A 
Defect in DNA repair
T-cell defects
Increased risk of lymphoma
Cerebellar ataxia
Ocular telangiectasia
Developmental delay
29
Q

What is CVID?

A

B-cell deficiency

High risk of autoimmune disorders and malignancy

30
Q

What are the clinical features of CVID?

A

Later onset than X-linked agammaglobulinaemia
Recurrent sinopulmonary infections with reduction in 2 or more Ig isotypes and impaired vaccine responses, usually >2 years
Clinically heterogeneous

31
Q

What will be the blood results in CVID?

A

Reduction in at least two of IgG, IgA and IgM

Impaired functional antibody response to vaccines

32
Q

what is the defect in hyper IgM syndrome?

A

• CD40L deficiency leads to lack of class switching, then therefore cellular and humoral immunity

33
Q

What is the triad of Hyper IgE syndrome?

A

High IgE and eosinophilia
Eczema
Recurrent skin and pulmonary infections

34
Q

What is Job syndrome?

A

AD form of Hyper IgE caused by STAT3 mutation

35
Q

How does hyper IgE syndrome present?

A

Pustular rash in newborn period, which can evolve
Cutaneous cold abscesses, lacking signs of inflammation
Otitis media, sinusitis, pyogenic pneumonia
Fungal infections

36
Q

What are the typical facies in Hyper IgE?

A 
Prominent forehead and chin
Deep set eyes
Bulbous nose
Coarse facial features
Facial asymmetry 
High palate
37
Q

What are some associated features of hyper IgE?

A

Scoliosis, midline anomalies, craniosynostosis, vascular abnormalities

38
Q

What are the features of Schwachman-Diamond?

A

Pancreatic exocrine insufficiency
Skeletal abnormalities
Recurrent infection of lungs, bones and skin
Most have neutropenia
Up to 25% have pancytopenia
Risks of myelodysplasia and leukaemia are increased

39
Q

What are the features of cyclical neutropenia?

A

Recurrent neutropenia for 3-6 days over a 21 day cycle (some variation)
Autosomal dominant
May cause stomatitis, oral ulcers or bacterial infections

MRCPCH Clinicals (17 decks)

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