Primary Immunodeficiency

Question 1

what are immunodeficiency diseases

Answer 1

serious/fatal disorders caused by defects in one or more components of the immune system

Question 2

what are primary immunodeficiency diseases

Answer 2

congenital diseases part of the immune system is absent or not working

Question 3

aetiology of primary immunodeficiency

Answer 3

genetic defects polymorphisms polygenic disorders

Question 4

polymorphisms

Answer 4

HLA variations MBL variations

Question 5

polygenic disorders

Answer 5

IgA deficiency CVID (common variable immunodeficiency)APECED (Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy)

Question 6

when would you suspect primary immunodeficiency

Answer 6

3/4 + infections/year unusual infections infections that are difficult to treat family history of neonatal deathlow lymphocyte count antibody deficiency

Question 7

where can the defects occur

Answer 7

anywhere along the lymphocyte maturation pathway

Question 8

what are antibody defects associated with

Answer 8

pyogenic bacterial infections - strep pneumonia - h influenzae - staphylcocci

Question 9

what are complement defects associated with

Answer 9

meningitis caused by neisseria meningitis

Question 10

what are T cell or macrophage defects associated with

Answer 10

protozoaviruses intracellular bacteria herpes reinfection

Question 11

TH17 pathway defects are associated with

Answer 11

recurrent candida infection

Question 12

genetic defect in chronic granulomatous disease

Answer 12

problem with neutrophils lack of NADPH oxidase reduces ability of phagocytes to produce reactive O2 species

Question 13

features of chronic granulomatous disease

Answer 13

recurrent pneumonias

Question 14

pathology of common variable immunodeficiency

Answer 14

B-cell disorder cause not known

Question 15

features of common variable immunodeficiency

Answer 15

hypogammaglobulinaemia predisposes to autoimmune disorders and lymphoma

Question 16

pathology of bruton’s X linked congenital agammaglobinaemia

Answer 16

defect in BTK gene severe block in B cell development X linked recessive

Question 17

features of bruton’s x linked agammaglobulinaemia

Answer 17

recurrent bacterial infections

Question 18

pathology of severe IgA deficiency

Answer 18

B-cell disorder B cell maturation defect

Question 19

features of severe IgA deficiency

Answer 19

sinus and resp infection coeliac disease severe reactions to blood transfusion

Question 20

pathology of digeorge syndrome

Answer 20

failure to develop 3rd and 4th pharyngeal pouches results in absent thymus defects in T and B cells

Question 21

features of digeorge syndrome

Answer 21

congenital heart disease learding difficulties viral and fungal diseases cleft palate tetralogy of fallot

Question 22

pathology of wiskott-aldrich syndrome

Answer 22

WASP gene defectproblems with actin skeleton T and B cell defects x-linked recessive

Question 23

features of wiskott-aldrich disease

Answer 23

bacterial infections thrombocytopenia eczema low IgMautoimmune disorderscancer

Question 24

pathology of severe combined immunodeficiency SCID

Answer 24

x linked defect in common gamma chain needed to produce many ILs defect in T and B cells

Question 25

features of SCID

Answer 25

recurrent bacterial, viral, fungal infections FH of neonatal death low lymphocyte count

Question 26

treatment for SCID

Answer 26

avoid live vaccines prophylaxis against opportune infections stem cell transplant

Question 27

general treatment of primary immunodeficiency

Answer 27

identify the genetic defect prevent infections - prophylactic antibiotics if severe - immunoglobulin replacement therapy

Question 28

what is secondary immunodeficiency

Answer 28

synthesis of key immune components is suppressed or the loss of immune components increases

Question 29

what can hypogammaglobulinaemia be caused by

Answer 29

nephrotic syndrome malnutrition phenytoin

Question 30

what can T cell deficiency be caused by

Answer 30

AIDSciclosporin