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Immuno > Primary Immunodef > Flashcards

Primary Immunodef Flashcards

1
Q

granulomas, hepatosplenomeg and LN

A

CGD

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2
Q

nadph oxidase defect leading to absent respiratory burst

A

CGD

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3
Q

excessive inflammation due to lack of antigen breakdown. granuloma formation. DHR test negative (does not fluoresce). TBT test - yellow.

A

CGD

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4
Q

increased susceptibility to mycobacterial infections including NTM and BCGosis. cant make granulomas.

A

macrophage signalling defect of IL-12/IFN-Y pathway

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5
Q

AK2 enzyme deficiency. AR inherited.

A

Reticular dysgenesis SCID

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6
Q

Absolute deficiency of mono/macrophages, platelets, PMN and lymphocytes.

A

Reticular dysgenesis. incompatible with life without BMT

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7
Q

CD18 B2 subunit defect (LFA-1) - leads to inability to activate ICAM-1 on endothelium. High neutrophils in the blood. no pus.

A

LAD

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8
Q

High neutrophils, no pus formation. Recurrent deep bacterial infections/fungal infections.

A

LAD

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9
Q

ELA-2 gene defect leading to defective neutrophil elastase production. AD inheritance.

A

Cyclical neutropenia

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10
Q

neutropenia every 4-6 weeks. FHx positive.

A

cyclical neutropenia ELA-2 defect

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11
Q

Defect in HAX-1 protein leading to chronically low neutrophils

A

Kostmann syndrome

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12
Q

AR inherited defect leading to chronically low neutrophils, severe bacterial and fungal infections. BM shows arrested neutrophil precursors.

A

Kostmann syndrome

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13
Q

delayed cord separation, high neutrophil counts in the blood. bacterial infections in neonatal period, no pus.

A

LAD

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14
Q

can be used to treat CGD

A

IFN-Y

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15
Q

can be used to treat Kostmann

A

G-CSF

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16
Q

Recurrent infections with high neutrophil count on FBC but no abscess formation

A

LAD

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17
Q

Recurrent infections with hepatosplenomegaly and abnormal dihydrorhodamine test

A

CGD

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18
Q

Recurrent infections with no neutrophils on FBC

A

kostmann

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19
Q

Infection with atypical mycobacterium. Normal FBC

A

IFN/IL-12 pathway defect

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20
Q

Absence of NK cells within peripheral blood

Abnormalities described in GATA2 or MCM4 genes

A

NK cell deficiency

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21
Q

increased susceptibility to viral infections i.e HSV, CMV, EBV, VZV

A

NK cell defects

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22
Q

GATA2 or MCM4 gene defects leading to increased susceptibility to viral infection

A

NK deficiency

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23
Q

FCGRA gene defects. Viral infections. Normal FBC.

A

NK functional defect

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24
Q

cells in the peripheral tissues which have numerous receptors capable of recognition of inflammation, immune complexes, and pathogens. can migrate to LN to present ag to T cells.

A

Dendritic cells

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25
Q

cells capable of phagocytosis and communication with T cells to stim adaptive response.

A

DC

26
Q

branch of complement pathway dependent on the acquired immune system (abs)

A

classical pathway - activated by ag-ab complexes binding C1

27
Q

causes a secondary complement deficiency via activation of the classical pathway and consumption of C4 +/- C3 in severe disease.

A

SLE.

28
Q

auto-antibodies which stabilise C3 convertases leading to increased C3 activation and consumption –> depletion. associated with membranous GN and partial lipodystrophy.

A

Nephritic factors.

29
Q

increased infections with encapsulated bacteria in immunocompromised patients

A

MBL pathway defect

30
Q

proteins B I P defect leading to increased infections with encapsulated bacteria

A

Alternative pathway defect

31
Q

Severe susceptibility to encapsulated organisms and increased risk of connective tissue disease

A

C3 def

32
Q

Inability to form MAC, infections with Neisseria Meningitides, Strep Pneum and H. Influezae particularly

A

C5-C9 final common pathway defect

33
Q

increased risk of encapsulated bacterial infections, presents with SLE/severe skin disease, deposition of complexes in skin, joints and kidneys

A

Classical pathway defect, most likely C2 deficiency

34
Q

pathway activated by direct binding to carbohydrates on microbial cell surface. presents with infections in immunodeficient pts.

A

MBL defect

35
Q

decreased levels of C1 inhibitor

A

hereditary angioedema

36
Q

CH50 tests

A

classical pathway

37
Q

Membranoproliferative nephritis and bacterial infections

A

c3 def with nephritic factors

38
Q

Meningococcus meningitis with family history of sibling dying of same condition aged 6

A

C9 def

39
Q

Severe childhood onset SLE with normal levels of C3 and C4

A

C1q/Classical pathway defect

40
Q

Recurrent infections when receiving chemotherapy but previously well

A

MBL

41
Q

immune cell that kills cells directly via 1) fas-fasligand 2)perforin-granzyme

A

CD8

42
Q

mutation of the common gamma chain of the IL-2 receptor, leading to inability to respond to cytokines and early arrest of immune cell development.

A

X linked SCID. leads to early arrest of NK and T cell +/- immature B cell production.

43
Q

most common form of SCID

A

X linked - 45%

44
Q

unwell by 3mo, FTT, infections of all types and FHx of early death. may also present with unusual skin disease (GvHD)

A

All SCID

45
Q

Very low or absent T cell numbers
Normal B cell numbers
Poorly developed lymphoid tissue and thymus

A

X-linked SCID

46
Q

developmental defect of the pharyngeal pouch leading to absence of T cells, normal B cells, IgM production but little to no IgA/IgG

A

DiGeorge 22q11.2

47
Q

hypocalcaemia, congenital cardiac defects, low set ears, cleft palate, oesophageal atresia and presents with recurrent viral and fungal infections

A

DiGeorge

48
Q

no CD4, normal CD8, no IgG and IgA. Associated with primary sclerosing cholangitis. Unwell by 3mo.

A

Bare Lymphocyte syndrome type 2 - no MHC II expression leads to no CD4 prod

49
Q

defect in Class II Transactivator and Regulatory factor X in the thymus - leading to low numbers of CD4 cells.

A

BLS type 2

50
Q

Severe recurrent infections from 3 months,CD4 and CD8 T cells absent, B cell present but immature phenotype, some IgM present, IgA and IgG absent. Normal facial features and cardiac echocardiogram

A

X linked SCID

51
Q

Young adult with chronic infection with Mycobacterium marinum

A

Il-12/IFN-Y pathway defect

52
Q

Recurrent infections in childhood, abnormal facial features, congenital heart disease, normal B cells, low T cells, normal IgM, borderline low IgA and IgG

A

DiGeorge

53
Q

6 month baby with two recent serious bacterial infections. T cells present – but only CD8+ population. B cells present. IgM present but IgG absent

A

BLS type 2

54
Q

abnormal B cell tyrosine kinase caused by X-linked gene defect. leads to inabilty of Pre-B cells to mature into B cells. Absence of mature B cells in the blood, no Igs >3mo. Recurrent bacterial infections.

A

X-linked Brutons Hypogammaglobinaemia

55
Q

X-linked defect in the CD40L leading to increased IgM levels but decreased IgG/IgA. increased risk of malignancy and autoimmunity.
No germinal centre development in lymph nodes.

A

X-linked hyper IgM

56
Q

1 year old male presents with PCP. Normal B cells, normal CD4/CD8. High IgM, no IgA/G

A

X-linked Hyper IgM

57
Q

immunodeficiency with a prevalence of 1 in 600. presents with recurrent resp and GI infections. 2/3rds ASx.

A

IgA def

58
Q

Recurrent bacterial infection, often with severe end organ damage, and poor responses to vaccination. increased incidence of AI disease and malignancy. Bloods show low IgA, IgG and IgE.

A

common variable immunondef

59
Q

Adult with bronchiectasis, recurrent sinusitis and development of atypical SLE

A

CVID

60
Q

Recurrent bacterial infections in a child, episode of pneumocystis pneumonia, T and B cells present, high IgM, absent IgA and IgG

A

X-linked hyperIgM

61
Q

1 year old boy. Recurrent bacterial infections. CD4 and CD8 T cells present. B cells absent, IgG, IgA, IgM absent

A

X-linked Bruton’s Hypogammaglobulinaemia

62
Q

Recurrent respiratory tract infections, absent IgA, normal IgM and IgG

A

IgA def

Immuno (8 decks)

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