May10 M3-Genetics_Immunology

Question 1

(exam) effectors of the innate immune system

Answer 1

• complement
• neutrophils
• monocytes
• NK cells
• epitheliumm
• endothelium

Question 2

(exam) effects of the adaptive immune system

Answer 2

• antibodies

- B and T lymphocytes

Question 3

(exam) diff between innate and adaptive immune system in terms of functioning and timing

Answer 3

• innate: pre-formed, PATTERN recognition, immediate resp (seconds to hours)
• adaptive: Ag induced, ANTIGEN recognition, delayed (days-weeks)

Question 4

(exam) global fct of immune system

Answer 4

sense and search, ignore or destroy

Question 5

(exam) definition of a PID (primary immunodeficiency)

Answer 5

• disease causing genotype bc of an error in a SINGLE gene
• fatal or life threatening
• can be immune system attacks self (innate system vs self = autoinflammatory, adaptive system vs self = autoimmune)

Question 6

(exam) different possible phenotypes with a PID (3)

Answer 6

• atopy (The genetic tendency to develop the classic allergic diseases)
• autoinflammatory or autoimmune diseases
• lymphoproliferative diseases and cancers (diseases resulting in cell prolif)

Question 7

(exam) pattern of transmission of PIDs

Answer 7

Mendelian pattern because single gene error

Question 8

(exam) age groups where PIDs can manifest and how they manifest

Answer 8

Diff possibilities exist. some are:

• really bad infections in childhood
• single infection in adulthood

Question 9

(exam) characteristics of a PID that has autosomal recessive transmission

Answer 9

• bi-allelic (2 bad alleles to have this PID)

- LOSS of function (need to lose fct in both alleles)

Question 10

(exam) characteristics of a PID that has autosomal dominant transmission

Answer 10

• mono-allelic (1 bad allele to have this PID)
• either loss of function: dominant negative (the bad protein suppresses the remaining good) or haploinsufficiency (loss of fct bc you don’t have enough prot left)
• OR gain of function: the mutant protein is more active than normally = is a LOSS/BAD at the cellular level

Question 11

(exam) characteristics of PID that has X-linked recessive transmission

Answer 11

• man with mutant allele = get this PID

- woman with this mutant allelle = usually no disease, even though 1 X is suppressed in every cell

Question 12

(exam) diseases that people with complement deficiencies get

Answer 12

Neisseria infections (meningitidis or gonorrhea) so

• a bad gonorrhea (severe, blood + skin)
• meningitis

Question 13

(exam) diseases of neutrophils function

Answer 13

• leukocyte adhesion deficiency
• neutropenia
• chronic granulomatous disease

Question 14

(exam) problems that people with diseases of neutrophil function (LAD, neutropenia, CGD) get

Answer 14

• oomphalitis (infection of the umbilical stump)
• peri-rectal cellulitis, abscess
• skin infections
• poor wound healing

Question 15

(exam) when to think of immunodeficiency in a patient

Answer 15

reccurent or severe or unusual infections