Immunology

Question 1

X linked agammaglobulinemia is caused by mutation in which gene/protein

Answer 1

Brutons tyrosine kinase BTK

Question 2

When does x linked agammaglobulinemia present

Answer 2

6 months when mothers immunoglobulins run out

Question 3

X linked agammaglobulinemia. Maturation arrest at which stage of development of b cell

Answer 3

Pre b cell. Thus cannot mature and cannot go out into peripheral blood.

Question 4

MPA and GPA (wegener)

Answer 4

MPA associated with MPO /p-ANCA

GPA associated with Proteinase 3 / c- ANCA

Question 5

Chronic granulomatous disease

Answer 5

Dihydrorhodamine test

Question 6

Hyper IgE clinical presentation

Answer 6

Pruritic eosinophilic dermatitis
staph abscesses
Sinopulmonary infections

Osteopenia

Question 7

Clinical presentatin hyper IgM

Answer 7

PCP

Question 8

Onset before 6 months suggests

Answer 8

T cell

Question 9

Onset at 6 to 12 months suggests

Answer 9

combined B- and T-cell defects
or a B-cell defect

which becomes evident when maternal antibodies are disappearing (at about age 6 mo).

Question 10

Onset much later than 12 months

Answer 10

B-cell defect or secondary immunodeficiency.

Question 11

Wiskott aldrich

Answer 11

Thrombocytopenia
Eczema
Immune deficiency

X linked

Question 12

Neisseria infection

Answer 12

Certain complement disorders

Question 13

Chronic granulomatous disease lab findings

Answer 13

Flow cytometric
oxidative (respiratory) burst measurement
using dihydrorhodamine 123 (DHR) or nitroblue tetrazolium (NBT)
can detect whether oxygen radicals are produced during phagocytosis;

no production is characteristic of chronic granulomatous disease

Question 14

Cervical LN, adenoid, tonsils are small in

Answer 14

X-linked agammaglobulinemia, X-linkedhyper-IgM syndrome,

severe combined immunodeficiency(SCID), and other T-cell immunodeficiencies

Question 15

Low IgG caused by

Answer 15

Nephrotic syndrome

Protein losing enteropathy

Question 16

Conplement testing

Answer 16

CH50 - classical

AH50 - alternative

Question 17

How to prevent GvHD post transfusions

Answer 17

use blood products from CMV-negative donors;
Leukodepletion 
 and irradiated (15 to 30 Gy).

Question 18

Chediak higashi syndrome

Answer 18

iant lysosomal granules develop in neutrophils
Occulocutaneous albinism
Recurrent resp and other bacterial infections
LyST mutation

Phagocytic cell defect

Question 19

Hyper IgE mutstions

Answer 19

Autosomal dominant
Stat3

Autosonal recessive
Tyk2
Dock8

Question 20

Hyper IgE treatment

Answer 20

Bactrin prophylaxis
Interferon gamma for life threatening infections
Monitor bone health

Question 21

Omenn syndrome inheritance

Answer 21

Autosomal recessive

Form of scid

Question 22

Omenn syndrome clinical features

Answer 22

Erythroderma
Diarrhea
FTT

Question 23

Omenn syndrome genetics

Answer 23

Rag 1 or 2 mutation

–> impairment of V(D)J recombination

Question 24

Omenn syndrome lab

Answer 24

Oligoglonal expansion of t cell (cause hepatosplenomegaly/LN) and ABSENT b cells
Hypogammaglobulinemia
Paradox: high IgE level and eosinophils