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Written exam > Immunology > Flashcards

Immunology Flashcards

1
Q

Most common type of SCID?

A

X-SCID (45%)
yC (common gamma chain) defect
T-, NK-
B+ (high B cell counts) but dysfunctional as abnormal cell surface receptors

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2
Q

JAK-3 SCID

A

Normal function of yC
Similar profile to X-SCID
AR, <10% of cases
T-, B+, NK-

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3
Q

IL7Ra deficiency

A

Growth factor receptor
T-, B+, NK+
3rd most common type of SCID (11%), AR

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4
Q

ADA deficiency

A

2nd most common SCID (15%)
AR
Involved in metabolic function of T cells
T-, B-, NK-
Other effects (neuro, cognitive, hearing, visual, movement disorders, hypotonia)
Not fully curative with HSCT

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5
Q

CD3 chain deficiencies

A

Components of the TCR complex (type of SCID)
T-, B+, NK+

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6
Q

CD45 deficiency

A

Type of SCID (rare)
aka lymphocyte common antigen/protein tyrosine phosphatase
T cell receptor signalling and T cell development in the thymus
T-, B+, NK+

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7
Q

RAG1/RAG2/artemis deficiency/cerunnos deficiency/DNA ligase 4 deficiency

A

Type of SCID
RAG1/RAG2 mutations can also cause Omenn syndrome
T-, B-, NK+
AR inheritance

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8
Q

Result of deficiency of CD40 on T cell?

A

Hyper IgM: cells unable to perform class switching therefore have normal/high IgM but all other Ig deficient
Normal B cell and T cell numbers

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9
Q

Clinical features of Hyper IgM?

A

Cryptosporidial/giardia diarrhoea
Recurrent bacterial infections
Sclerosing cholangitis
Int neutropenia
Reduced vaccine responses

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10
Q

Defect in RAG1/RAG2 somatic recombination of VDJ?

A

Omenn syndrome
- AR form of SCID
- low B and T cells
- similar to GvHD

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11
Q

Clinical features of Omenn syndrome

A

Opportunistic infections
Similar to GvHD (limited recombination of T cells -> abnormal population of self reactive T cells)
- neonatal erythroderma, eosinophilia, FTT, lymphadenopathy, splenomegaly, diarrhoea

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12
Q

Recurrent infections, thrombocytopenia, eczema?

A

Wiskott Aldrich syndrome
X linked recessive, WAS mutations (Xp11.23)
WASp = cytoskeletal actin element in haematopoietic cells
Can have autoimmune manifestations (ITP, vasculitis)

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13
Q

Investigation findings in WAS?

A

Thrombocytopenia with SMALL platelets
Low IgM, high IgA/E, variable IgG
Eosinophilia
Specific gene testing
Lymphocyte count and subsets can be variable (not diagnostic)

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14
Q

Cause of ataxia telangiectasia?

A

AR defect in ATM gene on Ch11 - enzyme involved in cellular response to DNA damage, repair

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15
Q

Clinical features of ataxia telangiectasia?

A

Ataxia, decline in motor function, oro-motor incoordination
Telangiectasia (eyes, sun exposed areas)
Immune deficiency: sinopulmonary, warts, molluscum, lesser risk of opportunistic infections
Malignancy risk

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16
Q

Investigation findings in ataxia telangiectasia?

A

Low/absent IgA
Varying degrees of IgM and IgG deficiency
Reduced T and B cell counts

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17
Q

Immunological consequence of DiGeorge?

A

Thymic aplasia - some have poor T cell production, 1-2% have absent/severely low T cells
The majority have less severe/mild deficiency and do not need therapy

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18
Q

Non invasive recurrent candida infections of skin, nails and mucosa?

A

Chronic mucocutaneous candidiasis

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19
Q

Aetiology of chronic mucocutaneous candidiasis?

A

Primarily Th17 pathway defects
CARD9
STAT3 (AD Hyper IgE)
DOCK8 (AR Hyper IgE)
IL-17Ra
AIRE gene = APECED (autoimmune polyendocrinopathy - adrenal, thyroid, hypoparathyroid, DM, candidiasis, ectodermal dysplasia)

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20
Q

AR variable immunodeficiency to viral infections, dwarfism, brittle hair?

A

Cartilage hair hypooplasia

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21
Q

Fatal EBV infections, lymphoma and combined immunodeficiency?

A

X linked lymphoproliferative syndrome
XLP1 = SH2DIA: positive signalling for CD8 and NK cell proliferation
XLP2 = XIAP: regulator of lymphocytic apoptosis; colitis, IBD

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22
Q

X linked disorder, IUGR, microcephaly, pancytopenia, NK cell dysfunction, progressive combined immunodeficiency

A

Dyskeratosis congenita (Hoyeraal-Hriedarsson)

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23
Q

AR, absent T cells, short stature, IUGR, renal failure, bone marrow failure, stroke, enteropathy

A

Schimke immune-osseous dysplasia

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24
Q

AR, normal T cells, reduced B cells with elevated IgE and IgA, respiratory and skin infections, ichythosis, bamboo hair (trichorrhexis nodosa), growth failure, risk of atopy

A

Netherton syndrome

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25
Q

Inhibitory TCR that competes for co-stimulation

A

CTLA4 deficiency:
Lack of CTLA4 -> unregulated T cell activation and autoinflammation

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26
Q

Clinical features of CTLA4 deficiency

A

Low Ig GAM (CVID like phenotype)
Multi organ autoimmunity: cytopenia, IBD, psoriasis, thyroid, bronchiectasis, generalised lymphadenopathy

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27
Q

Mutations in FOXP3 gene?

A

IPEX

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28
Q

Early onset insulin dependent DM, severe watery diarrhoea, FTT, dermatitis
Haemolytic anaemia, thrombocytopenia

A

IPEX

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29
Q

Clinical features of IPEX?

A

Early onset insulin dependent DM, severe watery diarrhoea, FTT, dermatitis
Haemolytic anaemia, thrombocytopenia

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30
Q

Cause of activated P13KCD syndrome?

A

Downstream signalling in immune regulation
AD GOF mutations -> hyperactivation of signalling pathways

31
Q

Clinical features of activated P13KCD syndrome?

A

Immune deficiency (herpes, EBV, CMV)
Autoimmunity
Lymphoproliferation, lymphoma
Neurodevelopmental delay and growth deficits

32
Q

Cause of X linked agammaglobulinaeia

A

Bruton’s tyrosine kinase (Btk) deficiency: pre B cell arrest, essential element of BCR signalling pathway
Most common cause of agammaglobulinaemia

33
Q

Infant males with recurrent bacterial infections, severe enteroviral infections, absent lymphoid tissue?

A

X linked agammaglobulinaemia

34
Q

Features of X linked agammaglobulinaemia?

A

Infant males (6-18 months) with recurrent bacterial infections, severe enteroviral infections, absent lymphoid tissue

35
Q

Investigations in X linked agammaglobulinaemia

A

Neutropenia (10-25% during sepsis)
Absent B cells
Generally reduced/absent Ig GAM
Absent vaccine responses

36
Q

Management of agammaglobulinaemia?

A

3-4 weekly IVIG
Avoid live vaccines
Antibiotic prophylaxis in some cases

37
Q

Cause of CVID?

A

Inability of B cells to differentiate into plasma cells capable of secreting all immunoglobulin types

38
Q

Clinical features of CVID

A

Upper and lower resp infections and chronic GI infections
Prolonged giardia
Pulmonary manifestations in 85% (bronchiectasis)
Lymphoproliferative and granulomatous manifestations
Granulomatous interstitial lung disease
Lymphadenopathy, splenomegaly

39
Q

Testing antibody responses in CVID?

A

T dependent isotope switched plasma cell response (tetanus, diphtheria, prevenar, MMR)
T independent (polysaccharide in conjugate vaccine) IgM pneumovax 23

40
Q

Overview of IgA deficiency

A

Defect in IgA
Normal IgG, M, D and E
Normal T cell, phagocytic and complement function
1/500 Caucasians

41
Q

Clinical features of IgA deficiency

A

Varies from asymptomatic to significant illness
Recurrent ear infections, sinusitis, bronchitis, pneumonia
GI and chronic diarrhoea
25-30% develop autoimmune features

42
Q

Overview of specific antibody deficiency

A

Inability to produce IgG to specific type of organisms
Particularly polysaccharide encapsulated organisms
Normal Ig levels otherwise
Impaired polysaccharide vaccine responses but normal responses to protein vaccines

43
Q

Overview of transient hypogammaglobulinaemia

A

Persistence of nadir in Ig seen after birth
Half life of IgG = 30 days
No complications, normal growth, sinopulmonary infections (no opportunistic infections)

44
Q

Low Ig with recurrent infections, thymic tumour, mainly seen in adults, low eosinophil count

A

Immunodeficiency with thymoma (Goods syndrome)

45
Q

B12 deficiency anaemia, FTT, leukopenia, hypogammaglobulinaemia

A

Transcobalamin II deficiency

46
Q

AR defect in CXCR4, severe warts, low but not absent Ig, neutropenia?

A

Warts, hypogammaglobulinaemia, infection, myelokathexis (WHIM syndrome)
BM failure to release granulocytes = myelokathexis
Treatment with Ig and G-CSF

47
Q

Light chain defect, AR inheritance, but highly variable and patients may be asymptomatic

A

Kappa chain deficiency

48
Q

Heavy chain deficiency

A

Extremely rare, single gene defects that encode multiple immunoglobulin
Patients only make one or a few types of Ig
Highly variable phenotype

49
Q

Overview of chronic granulomatous disease

A

67% X linked, 33% AR
Disorder of neutrophil function
Gp91phox subunit = CYBB Xp21.1 = X linked CGD is most common (65%)

50
Q

Clinical features of CGD

A

IBD
Gingivitis, stomatitis
GU infections, granulomas
Pneumonitis
Chorioretinitis
Adenopathy >90% and hepatosplenomegaly >90%

51
Q

Types of infection in CGD

A

Pneumonia 79%
Abscesses (caseating, inflammatory and granulomatous, hard to treat) 68% - mostly subset but can occur in liver or lung

52
Q

Investigations in CGD

A

Hypergammaglobulinaemia
NBT - reduction in oxidative burst
Dihydrorhodamine oxidation (DHR) - attempts to stimulate neutrophils with PMA and incubation, see if they can produce peroxide

53
Q

5 main organisms in CGD

A

Aspergillus
Staph aureus
Burkholderia cepacia
Serratia
Nocardia

54
Q

Management of CGD

A

ABx prophylaxis (bactrim)
Immunomodulatory therapy
yIFN (stimulates release of NO)
Steroids
BMT

55
Q

Physiology of leukocyte adhesion deficiency

A

Failure of neutrophil migration
Problems with beta2 integrals (e.g. CD11, CD18 in LAD type 1)

56
Q

Clinical features in LAD

A

Delayed separation of the umbilical cord (normally 10-14 days, can be up to 3 weeks)
Severe aggressive infections

57
Q

Most common type of LAD?

A

LAD1
Defect in common beta chain of beta2 integral, impaired firm adhesion of leukocytes
Severe phenotype with <1% normal expression of CD18

58
Q

Clinical features of LAD1

A

Delayed cord separation, omphalitis without pus
WBC >15 even when well
Destructive gingivitis
Severe necrotising bacterial infections (staph and GNB)
Absent pus!!!

59
Q

Types of LAD

A

LAD1 - impaired adhesion
LAD2 - impaired rolling
LAD3 - impaired activation

60
Q

Kostmann syndrome

A

AR HAX1 gene defect, severe congenital neutropenia
Treat with G-CSF and BMT

61
Q

Cyclic neutropenia

A

AD ELA1 gene defect
Neutropenia lasting 1 week, in cycles of 2-4 weeks (need to check twice per week for multiple weeks)

62
Q

Benign chronic neutropenia

A

Non-life threatening, asymptomatic chronic neutropenia

63
Q

Glycogen storage disease type 1b

A

Metabolic disorder with accumulation of glycogen in end organs
Defect in glucose-6-phosphate transporter 1
Leads to neutropenia, poor granulocyte function, hepatomegaly, hypoglycaemia

64
Q

Beta actin deficiency

A

Similar mechanism to LAD
General chemotaxis: periodontitis and early tooth loss

65
Q

Chediak Higashi syndrome

A

AR disorder with microtubule polymerisation defect
Impaired phagolysosome formation (i.e. phagocytosed bacteria are not destroyed by lysosomal enzymes)
Cx: EBV lymphoproliferative disease, HLH

66
Q

Oculo-cutaneous albinism (partial), sun sensitivity, photophobia, variable infection risk (S. aureus), neuropathy

A

Chediak Higashi syndrome

67
Q

Griscelli syndrome

A

AR disorder due to accumulation of melanosomes in melanocytes: hypomelanosis
Only type 2 (mutation in RAB27A) causes PID
Haemophagocytic syndrome common
Early BMT recommended

68
Q

Partial albinism, frequent pyogenic infections, acute episodes of fever, neutropenia and thrombocytopenia

A

Griscelli syndrome

69
Q

Classical complement pathway deficiency

A

C1q/r/s, C2 and C4 deficiency most common
Strong association with autoimmune disease
Partial C4 def in 30% of population
Infections with encapsulated bacteria common

70
Q

Alternative pathway deficiency

A

Recurrent Neisseria

71
Q

Actions of C3

A

Opsonisation
Solubilisation of immune complexes
Enhance bacterial killing via MAC
Potentiating humeral response

72
Q

C3 deficiency

A

Half life 60 microsec
Deficiency can be primary or secondary with excessive activation and consumption but even small amounts are protective against infections
Severe recurrent pyogenic infections

73
Q

MyD88 and IRAK4 deficiency

A

Susceptible to invasive (deep seated) pneumococcal, S. aureus, P. aeruginosa but normal resistance to other bacteria
Skin, bone, brain, organ abscesses
Onset within 2 years of life

74
Q

NEMO deficiency

A

Ectodermal dysplasia (thickened skin, conical teeth, absent sweat glands, thin hair, incontinentia pigmenti)
Infections - invasive pyogenic (pneumococcus, staph), mycobacterial
X-recessive, Nf-k B essential modulator/IKK gamma regulates gene expression
Ix: absence of pneumococcal vaccine response despite relatively normal Ig levels

Written exam (21 decks)

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