Immuno (immune deficiencies)

Question 1

What happens with no T cells?

Answer 1

Bacterial sepsis/CMV/EBV/VZV chronic infection and superficial candida

Question 2

What happens with no B cells

Answer 2

Encapsulated bacterial infections, enteroviruses infections, Giardia infections given low IgA

Question 3

What happens with no Granulocytes

Answer 3

staph, burkholderia, serratioa, nocardia, invasive candida

Question 4

X-linked recessive disease w/ recurrent bacterial infections after 6 months

Answer 4

X-linked brutons agammaglobulinemia

Defect in BTK so no B cell maturation. No tonsils/Germinal centers seen. Normal pro-B with decreased maturation and decreased numbers of B cells/Igs

Question 5

Which immunodeficiency produces false positive beta HCG?

Answer 5

selective IgA deficiency – due to presence of heterophile antibody

Question 6

Which disease has normal number of B cells with decreased plasma cells and immunoglobulin?

Answer 6

Common variable immunodeficiency – increased risk of autoimmune disease, lymphoma, can be acquired as an adult

Question 7

Which disease may present with disseminated mycobacterial infections?

Answer 7

IL-12 receptor deficiency – decreased TH1 response and therefore decreased IFN-gamma, so poor cell mediated immunity

Question 8

What disease corresponds to coarse Faceies, cold staph abscesses, retained primary teeth, increased IgE, derm problems

Answer 8

Hyper-IgE syndrome (Job’s syndrome) = Th1 cells fail to produce IFN gamma so neutrophiles can’t respond to chemotactic stimuli

See increased IgE, my guess would be because of overactive TH2 cells

Question 9

which disease presents with candida infections of skin and mucous membranes as well as endocrine dysfunction?

Answer 9

Chronic mucocutaneous candidiasis – T-cell dysfunction

Question 10

Which mutations can lead to SCID?

Answer 10

X-linked defective IL-2 receptor, adenosine deaminase deficiency

Question 11

ATM gene mutations and triad of findings =?

Answer 11

ataxia-telangiectasia = ataxia, spider angiomas, IgA deficiency w/ increased AFP

Question 12

How does one come down with Hyper-IgM?

Answer 12

Defective CD40L on helper T cells, therefore B cells can’t class swith and patient gets severe pyogenic infections early in life

Question 13

Patient has thrombocytopenic purpura, infections, and eczema.

Answer 13

Wiskott aldrich – X linked mutation in WAS gene leads to T cells unable to reorganize cytoskeleton.

See increased IgE, IgA, with decreased IgM

Question 14

Little baby has delayed separation of the umbilical cord. Which infections is she susceptible too and what does she have?

Answer 14

Leukocyte adhesion deficiency – defect in LFA-1 integrin protein on phagocytes predisposes to recurrent bacterial ifnections and absent pus formation

Question 15

Patient has recurrent pyogenic infections with giant granules in neutrophils

Answer 15

Chediak-Higashi syndrome – AR, defect in lysosomal trafficking regulator. Microtubule dysfunction in phagosome lysosome fusion. Also see partial albinism and peripheral neuropathy.

Question 16

THe patient has an abnormal DHR flow cytometry test and nitroblue tetrazolium dye reduction is abnormal. WHich enzyme is mutated?

Answer 16

Lack of NADPH oxidase = Chronic granulomatous disease, patient is not able to generate reactive oxygen species from oxygen, and can be ifnected with catalase positive organisms.

Question 17

Hyper actute rejection

Answer 17

Type II HS w/ preformed anti-donar abs leading to DIC and occluded vessels

Question 18

Acute rejection

Answer 18

cell mediated due to CTL reaction against foreign MHCs. Leads to vasculitis of graft vessels w/ lymphocytic infiltarte

Question 19

Chronic rejection

Answer 19

Class I-MHC nonself is perceived as class IMHC self presenting non self antigen by the CTL’s. Leads to vascular damage/bronchiolar damage (fibrosis).