immuno

Question 1

what is the problem in T-B+ SCid

Answer 1

cytokine receptor

Question 2

what is the gene responsible for X linked scid

Answer 2

IL2RG

Question 3

two key problems when you have T-B- SCID

Answer 3

either DNA repair problem or ADA def

Question 4

gene in X linked lymphoproliferative disease

Answer 4

SAP

Question 5

2 primary immunodeficiencies with increase risk of enterovirus meningoencephalitis

Answer 5

X linked lymphoprolifeative disease, CVID

Question 6

another name for CD40L deficiency

Answer 6

X linked hyper IgM

Question 7

how does methotrexate, MMF, sirolimus, and PTCy work

Answer 7

inhibits clonal expansion and proliferation

Question 8

4 immunodeficient where the T cells are present but broken

Answer 8

was, HyperIgM, XLP, ALPS

Question 9

all forms of scid except 1 have this inheritance

Answer 9

autosomal recessive

Question 10

when is normal physiologic red cell nadir

Answer 10

2 weeks of life

Question 11

when is max red cell production after birth

Answer 11

3 MOTNHS

Question 12

definition of erythrocytosis in a neonate

Answer 12

Hit >55

Question 13

elevated MMA and homocysteine

Answer 13

B12

Question 14

what organs get hurt with iron overload

Answer 14

liver, heart, and pancreas- can also cause other endocrine issues like hypogonadism and hypothyroid

Question 15

anemia caused by bone marrow disorder of mitochondrial dysfunction

Answer 15

sideroblastic

Question 16

most common type of sideroblastic anemia

Answer 16

X linked SA from missense in ALAS2