Immunodeficiencies ( 5 star!!!!!)

Question 1

low levels of all immunoglobulins and reccurent bacterial infections after 6 mo

Answer 1

Bruton Agammaglobulinemia

Question 2

What is defective in Brutons agammaglobulinemia

Answer 2

defective tyrosine kinase gene–> B-cell deficiency

Question 3

inheritance of Brutons

Answer 3

X-linked recessive–> so BOYS only

Question 4

recurrent sinus and lung infections + allergies, eczema, asthma; MC immunodeficency

Answer 4

IgA deficiency

Question 5

tetany + recurrent viral, fungal, protozoal infections

Answer 5

DiGeorge Syndrome–> no thymus (T cells) and no parathyroids (hypocalcemia)

Question 6

What is the main pathogenesis of DiGeorge

Answer 6

Failure of 3rd and 4th pharyngeal POUCHES to develop

Question 7

3rd branchial/ pharyngeal pouch derivatives

Answer 7

1. inferior parathyroids (dorsal wings)

2. Thymus (ventral wings)

Question 8

4th branchial pouch derivative

Answer 8

1. Superior parathyroid glands (dorsal wings)

Question 9

Branchial pouches derived from what germ layer

Answer 9

endoderm

Question 10

90% of DiGeorge have what chromosomal abberation

Answer 10

22q11 defect

Question 11

what two heart defects may be seen in Digeorge

Answer 11

1. tetralogy of fallot

2. truncus arteriosus

Question 12

Chvostek sign

Answer 12

tap cheek and get a spasm –> hyopcalcemia; used in DiGeorge

Question 13

Trousseau sign

Answer 13

tighten BP cuff around arm and get carpospedal spasm–> hypocalcemia spasm; seen in DiGeorge

Question 14

T-cell dysfunction against Candid

Answer 14

Chronic Mucocutaneous Candidiasis

Question 15

elevated IgM, but low IgG

Answer 15

Hyper IgM syndrome

Question 16

X-linked Hyper IgM due to

Answer 16

no CD40-L on helper T-cells–> cant activate B-cells to class-switch

Question 17

AR Hyper IgM due to

Answer 17

no CD40 on B-cells

*can also be due to NEMO deficiency

Question 18

recurrent mycobacterial infections

Answer 18

IL-12 receptor deficiency

Question 19

severe recurrent or fatal infections from common viruses, chronic diarrhea, failure to thrive

Answer 19

Severe Combined Immunodeficiency (SCID)

Question 20

what is deficient in SCID?

Answer 20

adenosine deaminase–> no B-cells o T-cells

Question 21

what does SCID have in common with DiGeorge

Answer 21

no thymic shadow on CXR–> T-cells arent made, so thymus not large

Question 22

young boy with recurrent infections and eczema on the trunk

Answer 22

Wiskott-Aldrich syndrome–> is X-linked, so ALL are boys

Question 23

4 symptoms of Wiskott-Aldrich (“WAITER”)

Answer 23

Wiskott
Aldrich
Immunodeficiency
Thrombocytopenia and purpura
Eczema
Recurrent pyogenic infections

*thrombocytopenia= easy bleeding, so purpura

Question 24

Lab findings in Wiskott-Aldrich (2, are Ig)

Answer 24

1. low IgM (hence immune issues; can make IgM against capsular polysaccharides of bacteria)
2. high IgA

Question 25

young kid who can't track moving targets with smooth pursuit, is maybe clumsy

Answer 25

Ataxia-telangectasia--> defects in DNA repair clumsiness due to cerebellar ataxia

Question 26

what are Ataxia-telangectasia pts deficient in (Ig)

Answer 26

deficient IgA

Question 27

what serum value may be increased in Ataxia-telangectasia by 8 mo

Answer 27

AFP (alpha fetoprotein) *( think "A" for Ataxia, AFP, IgA)

Question 28

Ataxia-telangiectasia have increased risk of what two CA

Answer 28

1. lymphoma 2. acute leukemias *dont get chronic; usually dead by age 25, so wont live long enough

Question 29

what to avoid in Ataxia-telangiectasia pts

Answer 29

X-rays--> can't repair DNA, so exquisitely sensitive to radiation of any kind

Question 30

Chronic Granulomatous disease pts are deficient in what enzyme

Answer 30

NADPH oxidase--> phagocytes can phagocytose, but cant perform intracell killing = no generation of ROS

Question 31

Test for Chronic Granulomatous disease?

Answer 31

Nitroblue tetrazolium NBT) test--> add dye to blood, usually NADPH will oxidize NBT from yellow to blue/black; no color change in CGD pt

Question 32

chronic granulomatous pts are especiialy sensitive to pathogens with what--> 5 examples for bonus pts! (3 bact and 2 fungi)

Answer 32

Catalse + organisms: 1. S. aureus 2. E. coli 3. Klebsiella 4. Aspergillus 5. Candida

Question 33

Tx for chronic granulomatous dz

Answer 33

1. prophylactic TMP-SMX | 2. sometimes INF-gamma helpful, not always

Question 34

partial albinism, neurologic disorders, recurrent respiratory tract infections and skin infections

Answer 34

Chediak-Higashi syndrome

Question 35

what gene defective in Chediak-higashi

Answer 35

LYST gene--> lysosomal transport; cant get enzymes to lysosomes, so they dont work

Question 36

what would be diagnostic of Chediak-Higashi on a blood smear

Answer 36

Giant cytoplasmic granules in PMNs

Question 37

eczema, cold abcesses, and broad nose, frontal bossing, deep set eyes

Answer 37

Hyperimmunoglobulin E syndrome (Job syndrome) think about Job covered in boils

Question 38

what is deficient in Hyperimmunoglobulin E

Answer 38

IFN-gamma--> impaired neutrophil chemotaxis = hence the cold abcesses; cant get neutrophils there, so no imflammation, no warmth

Question 39

delayed separation of umbilical cord (stay on for a month or more)

Answer 39

Leukocyte Adhesion Deficiency syndrome

Question 40

what is defective in Leukocyte Adhesion deficiency syndrome

Answer 40

abnormal integrins--> inability of phagocytes to exit circulation

Question 41

2 rows of teeth

Answer 41

Hyperimmunoglobulin E syndrome (Job syndrome)