inherited deficiencies of the immune system

Question 1

_____ is the degree to which both copies of a gene have the same genetic sequence

Answer 1

zygosity

Question 2

____ is one of two or more versions of a gene

Answer 2

allele

Question 3

_____ is both inherited alleles for a gene are the same

Answer 3

homozygous

Question 4

______ is when inherited alleles for a gene are different

Answer 4

heterozygous

Question 5

_____ syndromes are when an allele influences the phenotypes in homozygous and heterozygous individuals

Answer 5

dominant

Question 6

______ syndromes are when an allele influences the phenotypes in homozygous individuals (2 defective alleles)

Answer 6

recessive

Question 7

_____ diseases are heritable diseases caused by recessive mutations in genes carried on the X chromosome

Answer 7

X-linked

Question 8

dominant defective alleles lead to disease in _______ carriers

Answer 8

heterozygous

Question 9

recessive alleles lead to disease in _____ carriers

Answer 9

homozygous

Question 10

if parents have the disease and have unaffected offspring, then the parents are ____

Answer 10

heterozygous

Question 11

if unaffected parents have offspring with the disease, then the parents are ______

Answer 11

heterozygous

Question 12

name 6 host immune system functions that immunodeficiency diseases affect

Answer 12

IFN gamma receptor, antibody production, complement activation, phagocytosis, T cell function, IL-12 receptor

Question 13

name 2 diseases caused by antibody deficiencies

Answer 13

X-linked agammaglobulinemia (XLA) and X-linked Hyper-IgM syndrome

Question 14

what is XLA caused by

Answer 14

mutation in bruton’s tyrosine kinase (BTK)

Question 15

what is x-linked hyper-IgM caused by

Answer 15

CD40 ligand deficiency

Question 16

patients with CD40L deficiency also have ____

Answer 16

neutropenia

Question 17

why do patients with CD40L deficiency have neutropenia

Answer 17

impairs production of granulocyte-macrophage colony-stimulating factor, which stimulates development of neutrophils, so the patients have neutrophil deficiency

Question 18

deficiencies in C1INH cause _____

Answer 18

hereditary angioedema

Question 19

function of C1INH

Answer 19

inhibits the complement system

Question 20

C1INH binds to and inactivates ___ and ___

Answer 20

C1r and C1s proteases

Question 21

leukocyte adhesion deficiency is due to a mutation in ____ gene

Answer 21

CD18

Question 22

CD18 is a _____

Answer 22

integrin

Question 23

CD18 plays a significant role in _____

Answer 23

cellular adhesion, cell surface signaling needed for neutrophils and monocytes to leave the blood and enter the infection site

Question 24

deficiencies in T cell function lead to ___

Answer 24

SCID (severe combined immune deficiencies)

Question 25

what different gene defects can lead to SCID

Answer 25

adenosine deaminase, common gamma chain, WASp/WAS, MHC I/II

Question 26

a mutation in the gene that encodes the common gamma chain leads to ______. this is a form of SCID called _____

Answer 26

no cytokine signaling, X-linked SCID

Question 27

defects in MHC Class I leading to SCID are caused by ____

Answer 27

defects in TAP transporter= loss of cytotoxic T cell responses

Question 28

defects in IL-12 receptor cause impaired ___ response

Answer 28

Th1