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Immunology Flashcards

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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
Inhibitory TCR that competes for co-stimulation
CTLA4 deficiency: Lack of CTLA4 -> unregulated T cell activation and autoinflammation
26
Clinical features of CTLA4 deficiency
Low Ig GAM (CVID like phenotype) Multi organ autoimmunity: cytopenia, IBD, psoriasis, thyroid, bronchiectasis, generalised lymphadenopathy
27
Mutations in FOXP3 gene?
IPEX
28
Early onset insulin dependent DM, severe watery diarrhoea, FTT, dermatitis Haemolytic anaemia, thrombocytopenia
IPEX
29
Clinical features of IPEX?
Early onset insulin dependent DM, severe watery diarrhoea, FTT, dermatitis Haemolytic anaemia, thrombocytopenia
30
Cause of activated P13KCD syndrome?
Downstream signalling in immune regulation AD GOF mutations -> hyperactivation of signalling pathways
31
Clinical features of activated P13KCD syndrome?
Immune deficiency (herpes, EBV, CMV) Autoimmunity Lymphoproliferation, lymphoma Neurodevelopmental delay and growth deficits
32
Cause of X linked agammaglobulinaeia
Bruton's tyrosine kinase (Btk) deficiency: pre B cell arrest, essential element of BCR signalling pathway Most common cause of agammaglobulinaemia
33
Infant males with recurrent bacterial infections, severe enteroviral infections, absent lymphoid tissue?
X linked agammaglobulinaemia
34
Features of X linked agammaglobulinaemia?
Infant males (6-18 months) with recurrent bacterial infections, severe enteroviral infections, absent lymphoid tissue
35
Investigations in X linked agammaglobulinaemia
Neutropenia (10-25% during sepsis) Absent B cells Generally reduced/absent Ig GAM Absent vaccine responses
36
Management of agammaglobulinaemia?
3-4 weekly IVIG Avoid live vaccines Antibiotic prophylaxis in some cases
37
Cause of CVID?
Inability of B cells to differentiate into plasma cells capable of secreting all immunoglobulin types
38
Clinical features of CVID
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
Testing antibody responses in CVID?
T dependent isotope switched plasma cell response (tetanus, diphtheria, prevenar, MMR) T independent (polysaccharide in conjugate vaccine) IgM pneumovax 23
40
Overview of IgA deficiency
Defect in IgA Normal IgG, M, D and E Normal T cell, phagocytic and complement function 1/500 Caucasians
41
Clinical features of IgA deficiency
Varies from asymptomatic to significant illness Recurrent ear infections, sinusitis, bronchitis, pneumonia GI and chronic diarrhoea 25-30% develop autoimmune features
42
Overview of specific antibody deficiency
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
Overview of transient hypogammaglobulinaemia
Persistence of nadir in Ig seen after birth Half life of IgG = 30 days No complications, normal growth, sinopulmonary infections (no opportunistic infections)
44
Low Ig with recurrent infections, thymic tumour, mainly seen in adults, low eosinophil count
Immunodeficiency with thymoma (Goods syndrome)
45
B12 deficiency anaemia, FTT, leukopenia, hypogammaglobulinaemia
Transcobalamin II deficiency
46
AR defect in CXCR4, severe warts, low but not absent Ig, neutropenia?
Warts, hypogammaglobulinaemia, infection, myelokathexis (WHIM syndrome) BM failure to release granulocytes = myelokathexis Treatment with Ig and G-CSF
47
Light chain defect, AR inheritance, but highly variable and patients may be asymptomatic
Kappa chain deficiency
48
Heavy chain deficiency
Extremely rare, single gene defects that encode multiple immunoglobulin Patients only make one or a few types of Ig Highly variable phenotype
49
Overview of chronic granulomatous disease
67% X linked, 33% AR Disorder of neutrophil function Gp91phox subunit = CYBB Xp21.1 = X linked CGD is most common (65%)
50
Clinical features of CGD
IBD Gingivitis, stomatitis GU infections, granulomas Pneumonitis Chorioretinitis Adenopathy >90% and hepatosplenomegaly >90%
51
Types of infection in CGD
Pneumonia 79% Abscesses (caseating, inflammatory and granulomatous, hard to treat) 68% - mostly subset but can occur in liver or lung
52
Investigations in CGD
Hypergammaglobulinaemia NBT - reduction in oxidative burst Dihydrorhodamine oxidation (DHR) - attempts to stimulate neutrophils with PMA and incubation, see if they can produce peroxide
53
5 main organisms in CGD
Aspergillus Staph aureus Burkholderia cepacia Serratia Nocardia
54
Management of CGD
ABx prophylaxis (bactrim) Immunomodulatory therapy yIFN (stimulates release of NO) Steroids BMT
55
Physiology of leukocyte adhesion deficiency
Failure of neutrophil migration Problems with beta2 integrals (e.g. CD11, CD18 in LAD type 1)
56
Clinical features in LAD
Delayed separation of the umbilical cord (normally 10-14 days, can be up to 3 weeks) Severe aggressive infections
57
Most common type of LAD?
LAD1 Defect in common beta chain of beta2 integral, impaired firm adhesion of leukocytes Severe phenotype with <1% normal expression of CD18
58
Clinical features of LAD1
Delayed cord separation, omphalitis without pus WBC >15 even when well Destructive gingivitis Severe necrotising bacterial infections (staph and GNB) Absent pus!!!
59
Types of LAD
LAD1 - impaired adhesion LAD2 - impaired rolling LAD3 - impaired activation
60
Kostmann syndrome
AR HAX1 gene defect, severe congenital neutropenia Treat with G-CSF and BMT
61
Cyclic neutropenia
AD ELA1 gene defect Neutropenia lasting 1 week, in cycles of 2-4 weeks (need to check twice per week for multiple weeks)
62
Benign chronic neutropenia
Non-life threatening, asymptomatic chronic neutropenia
63
Glycogen storage disease type 1b
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
Beta actin deficiency
Similar mechanism to LAD General chemotaxis: periodontitis and early tooth loss
65
Chediak Higashi syndrome
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
Oculo-cutaneous albinism (partial), sun sensitivity, photophobia, variable infection risk (S. aureus), neuropathy
Chediak Higashi syndrome
67
Griscelli syndrome
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
Partial albinism, frequent pyogenic infections, acute episodes of fever, neutropenia and thrombocytopenia
Griscelli syndrome
69
Classical complement pathway deficiency
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
Alternative pathway deficiency
Recurrent Neisseria
71
Actions of C3
Opsonisation Solubilisation of immune complexes Enhance bacterial killing via MAC Potentiating humeral response
72
C3 deficiency
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
MyD88 and IRAK4 deficiency
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
NEMO deficiency
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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