t and B cell disorders

Question 1

what does XLA stand for

Answer 1

x-linked agammaglobulinaemia

Question 2

who does XLA present in and why

Answer 2

presents predominantly in males as it is an X linked recessive cdition

Question 3

what gene is affected in XLA and what does it code for

Answer 3

BTK

bruton tyrosine kinase

Question 4

what does BTK do

Answer 4

important role in maturation of B cells in bone marrow

Question 5

serology for XLA

Answer 5

lack of B cells in circulation therefore have NO circulation antibodies of all classes

Question 6

when does XLA present and why

Answer 6

after 6 months due to still having a supply of maternal immunoglobulins

Question 7

what should you avoid in people with XLA

Answer 7

live attenuated vaccines like polio vaccine

Question 8

how does XLA present

Answer 8

atrophy of lymph nodes and tonsils - lymphoid hypoplasia

Question 9

treatment of XLA

Answer 9

lifelong transfusions of immunoglobulins

Question 10

how common is selective IgA deficieny

Answer 10

very common and least serious

Question 11

pathology of IgA deficiency

Answer 11

failure of IgA-producing B cells to mature into plasma

production of other antibodies isn’t affected

Question 12

what should you be aware of when transfusing individuals with selective IgA deficiency

Answer 12

may have anaphylaxis with blood containing IgA as immune system doesn’t recognise IgA in any regard

Question 13

what do blood tests show in selective IgA deficiency

Answer 13

low IgA
normal IgM and IgG
maybe raised IgE

Question 14

what does CVID stand for

Answer 14

common variable immunodeficiency

Question 15

serology for CVID

Answer 15

low IgA and IgG

normal IgM

Question 16

what gene is affected in Di George syndrome

Answer 16

22q11.2 - q11.2 portion on chromosome 22 is deleted

Question 17

what the of condition is di George

Answer 17

autosomal dominant

Question 18

what fails to form in di George

Answer 18

3rd and 4th pharyngeal arches thus thymus, inferior and superior parathyroid glands fail to form

Question 19

what does CATCH 22 stand for

Answer 19

C - cardiac abnormalities
A - abnormal face
T - thymic hypoplasia producing T cell dysfunction
C- cleft palate
H- hypocalcaemia
22 - chromosome 22

Question 20

serology in di George

Answer 20

low T cell
low PTH
hypocalcaemia

Question 21

what is SCID

Answer 21

severe combined immunodeficiency disorder - affects both t and B cells

Question 22

what is chromic mucocutaneous candidiasis

Answer 22

name for a group of gene disorders where T cells are unable to respond to candid antigens