Primary immune deficiency disease

Question 1

caused by mutations in the B2 intern gene

Answer 1

LAD I

Question 2

defect in the regulatory protein codlin (aka Fermt 3)

Answer 2

LAD III

Question 3

Extremely rare; caused by primary defect in fucose transporter that oligosaccharide selection are missing

Answer 3

LAD II

Question 4

impaired wound healing

delayed loss of umbilical cord

Answer 4

LAD

Question 5

why do LAD III patients develop bleeding

Answer 5

B2 integrin in platelets is not functional

Question 6

primary failure of the development of a spleen

Answer 6

Ivemark syndrome

Question 7

Impaired phagocytic killing of microorganisms by neutrophils and macrophages

Answer 7

CGD

Question 8

typical infectious agents in CGD

Answer 8

catalase positive bacteria
(S aureus and S marcescens)
B cepacia

Question 9

lack of component of NADPH –> defective production of Reactive Oxygen Species in phagolysosome membrane

Answer 9

CGD

Question 10

defect in IL12, IFN gamma axis

Answer 10

Mendelian susceptibility of mycobacterial disease

Question 11

CGD prophylaxis

Answer 11

TMP SMX

Question 12

prone to develop in MSMD esp IL12/IL12R deficiency

Answer 12

salmonella

Question 13

Deficiencies in alternative pathway (Factors D and properdin)

Answer 13

Neisseria infection

Question 14

Dx of complement deficiency

Answer 14

CH50 and AP50

Question 15

Deficiency in coronin 1A

Answer 15

Defective egress of lymphocytes

Question 16

form of SCID resolution from adenylate kinase 2 deficiency

Answer 16

Reticular dysgenesis

Question 17

incomplete T cell deficiency that is associated with neurologic impairments

Answer 17

PNP deficiency