Primary Immunodef

Question 1

granulomas, hepatosplenomeg and LN

Answer 1

CGD

Question 2

nadph oxidase defect leading to absent respiratory burst

Answer 2

CGD

Question 3

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

Answer 3

CGD

Question 4

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

Answer 4

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

Question 5

AK2 enzyme deficiency. AR inherited.

Answer 5

Reticular dysgenesis SCID

Question 6

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

Answer 6

Reticular dysgenesis. incompatible with life without BMT

Question 7

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

Answer 7

LAD

Question 8

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

Answer 8

LAD

Question 9

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

Answer 9

Cyclical neutropenia

Question 10

neutropenia every 4-6 weeks. FHx positive.

Answer 10

cyclical neutropenia ELA-2 defect

Question 11

Defect in HAX-1 protein leading to chronically low neutrophils

Answer 11

Kostmann syndrome

Question 12

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

Answer 12

Kostmann syndrome

Question 13

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

Answer 13

LAD

Question 14

can be used to treat CGD

Answer 14

IFN-Y

Question 15

can be used to treat Kostmann

Answer 15

G-CSF

Question 16

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

Answer 16

LAD

Question 17

Recurrent infections with hepatosplenomegaly and abnormal dihydrorhodamine test

Answer 17

CGD

Question 18

Recurrent infections with no neutrophils on FBC

Answer 18

kostmann

Question 19

Infection with atypical mycobacterium. Normal FBC

Answer 19

IFN/IL-12 pathway defect

Question 20

Absence of NK cells within peripheral blood

Abnormalities described in GATA2 or MCM4 genes

Answer 20

NK cell deficiency

Question 21

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

Answer 21

NK cell defects

Question 22

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

Answer 22

NK deficiency

Question 23

FCGRA gene defects. Viral infections. Normal FBC.

Answer 23

NK functional defect

Question 24

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.

Answer 24

Dendritic cells

Question 25

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

Answer 25

DC

Question 26

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

Answer 26

classical pathway - activated by ag-ab complexes binding C1

Question 27

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

Answer 27

SLE.

Question 28

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

Answer 28

Nephritic factors.

Question 29

increased infections with encapsulated bacteria in immunocompromised patients

Answer 29

MBL pathway defect

Question 30

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

Answer 30

Alternative pathway defect

Question 31

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

Answer 31

C3 def

Question 32

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

Answer 32

C5-C9 final common pathway defect

Question 33

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

Answer 33

Classical pathway defect, most likely C2 deficiency

Question 34

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

Answer 34

MBL defect

Question 35

decreased levels of C1 inhibitor

Answer 35

hereditary angioedema

Question 36

CH50 tests

Answer 36

classical pathway

Question 37

Membranoproliferative nephritis and bacterial infections

Answer 37

c3 def with nephritic factors

Question 38

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

Answer 38

C9 def

Question 39

Severe childhood onset SLE with normal levels of C3 and C4

Answer 39

C1q/Classical pathway defect

Question 40

Recurrent infections when receiving chemotherapy but previously well

Answer 40

MBL

Question 41

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

Answer 41

CD8

Question 42

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.

Answer 42

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

Question 43

most common form of SCID

Answer 43

X linked - 45%

Question 44

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

Answer 44

All SCID

Question 45

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

Answer 45

X-linked SCID

Question 46

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

Answer 46

DiGeorge 22q11.2

Question 47

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

Answer 47

DiGeorge

Question 48

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

Answer 48

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

Question 49

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

Answer 49

BLS type 2

Question 50

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

Answer 50

X linked SCID

Question 51

Young adult with chronic infection with Mycobacterium marinum

Answer 51

Il-12/IFN-Y pathway defect

Question 52

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

Answer 52

DiGeorge

Question 53

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

Answer 53

BLS type 2

Question 54

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.

Answer 54

X-linked Brutons Hypogammaglobinaemia

Question 55

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.

Answer 55

X-linked hyper IgM

Question 56

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

Answer 56

X-linked Hyper IgM

Question 57

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

Answer 57

IgA def

Question 58

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.

Answer 58

common variable immunondef

Question 59

Adult with bronchiectasis, recurrent sinusitis and development of atypical SLE

Answer 59

CVID

Question 60

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

Answer 60

X-linked hyperIgM

Question 61

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

Answer 61

X-linked Bruton's Hypogammaglobulinaemia

Question 62

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

Answer 62

IgA def