MCM 2-26 V2

Question 1

MHC antigen deficiencies

Answer 1

wont have CD4 or CD8 t cells = B cells will be crippled, get lots of common and opporunitistc infections

auto-somal recessive, various genes, lots of respiratory, common and opportunistic infections

Question 2

SCIDS

Answer 2

IL2 receptor error, RAG error = wont get T cell receptors or antibody made by B-cells

will see diseases seen in aids (candidiasis), GFVD

Question 3

Chronic Granulomatous Disease

Answer 3

NADPH oxidase mutation = phagocyte issues = cant make oxygen reactive species used by phags to kill. When phags cant kill they form granulomas

Increased susceptibility to catalase + bacteria that can break down the small amounts of H202 generated

impaired neutrophil function

chronic bacterial and fungal infections

Question 4

Selective IgA Deficiency

Answer 4

no specific deficiencies, most common immunodeficiency. may be asymptomatic,

those who are symptomatic may have frequent respirartory and GI infections

Question 5

X linked agammablobulinemia

Answer 5

No IgG antibody made
do not give live vaccines

Brutons tyrosine kinase

B cells blocked at pro-B stage

Recurrent bacterial infections

Question 6

DiGeorge’s Sundrome

Answer 6

deletion of 22q11.2 messes up head/neck/chest development

missing T cells
heart issues

unusual faces

absense of thymus and T-cells, need thymus transplant

GVHD is a problem, must only give irradiated blood products

Question 7

Hyper IgM

Answer 7

without CD40L on t-cells, cant activate B-cells to class switch

Question 8

Aids defining diseases

Answer 8

immunocompetent patients will not frequently get thrush, esophageal candidiasis, toxplasmosis

as cd4 decreases, these infections come at expected intervals

Question 9

who should not get live vaccines?

Answer 9

anyone with combined humoral deficiency - AKA missing B cells or T cells

Question 10

describe the common IL2 gamma chain defect

Answer 10

The IL2 gamma chain in interleuken2, invovled in signal transduction, is also involved in IL4, 7, 9, 15, 21 tranduction

Missing the common gamma chain causes failure of major cytokine receptors required to make T and B cells

Result - don’t make T and B cells.

Common gamma chain.

Missing big chunks of immune response - children very ill, cant make B or T cells

Question 11

scids heredity?

treatment?

Answer 11

x linked and auto recessive
75% male

bone marrow transplant to prevent early death

Question 12

treatment of cancer vs others?

Answer 12

in cancer we want to boost immune response, generally in other conditions we want to dial it down.

Question 13

oral yeast infection is a sign of

Answer 13

Weak CMI

Question 14

consequence of lacking MHC1? MHC2?

Answer 14

missing mhc1 - cant educate CD8+ t cells

missing MHC2 - cant educate CD4+ t cells

Question 15

missing the common gamma chain of IL2 receptor causes

Answer 15

failure of major cytokine receptors required to make T and B cells

Question 16

combined immunodeficiency will often show

Answer 16

CBC often shows lymphopehnia or no lymphocytes at all

Question 17

diagnosis of combined immunodeficiency

Answer 17

• complete blood count will show lymphopenia
• enumeration of specific lymphocyte subsets assists in diagnosis
• analysis of lymphocyte proliferation in response to mitogens, non-self HLA antigens in a mixed lymphocyte culture, specific antigens

Question 18

treatment of combined immunodeficiency

Answer 18

needs bone marrow transplant

do not give live vaccine

treat with antibotics, antivirals, antifungals etc..