Immunodeficiencies ( 5 star!!!!!) Flashcards Preview

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Flashcards in Immunodeficiencies ( 5 star!!!!!) Deck (41):
1

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

Bruton Agammaglobulinemia

2

What is defective in Brutons agammaglobulinemia

defective tyrosine kinase gene--> B-cell deficiency

3

inheritance of Brutons

X-linked recessive--> so BOYS only

4

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

IgA deficiency

5

tetany + recurrent viral, fungal, protozoal infections

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

6

What is the main pathogenesis of DiGeorge

Failure of 3rd and 4th pharyngeal POUCHES to develop

7

3rd branchial/ pharyngeal pouch derivatives

1. inferior parathyroids (dorsal wings)
2. Thymus (ventral wings)

8

4th branchial pouch derivative

1. Superior parathyroid glands (dorsal wings)

9

Branchial pouches derived from what germ layer

endoderm

10

90% of DiGeorge have what chromosomal abberation

22q11 defect

11

what two heart defects may be seen in Digeorge

1. tetralogy of fallot
2. truncus arteriosus

12

Chvostek sign

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

13

Trousseau sign

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

14

T-cell dysfunction against Candid

Chronic Mucocutaneous Candidiasis

15

elevated IgM, but low IgG

Hyper IgM syndrome

16

X-linked Hyper IgM due to

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

17

AR Hyper IgM due to

no CD40 on B-cells

*can also be due to NEMO deficiency

18

recurrent mycobacterial infections

IL-12 receptor deficiency

19

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

Severe Combined Immunodeficiency (SCID)

20

what is deficient in SCID?

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

21

what does SCID have in common with DiGeorge

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

22

young boy with recurrent infections and eczema on the trunk

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

23

4 symptoms of Wiskott-Aldrich ("WAITER")

Wiskott
Aldrich
Immunodeficiency
Thrombocytopenia and purpura
Eczema
Recurrent pyogenic infections

*thrombocytopenia= easy bleeding, so purpura

24

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

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

25

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

Ataxia-telangectasia--> defects in DNA repair

clumsiness due to cerebellar ataxia

26

what are Ataxia-telangectasia pts deficient in (Ig)

deficient IgA

27

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

AFP (alpha fetoprotein)

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

28

Ataxia-telangiectasia have increased risk of what two CA

1. lymphoma
2. acute leukemias

*dont get chronic; usually dead by age 25, so wont live long enough

29

what to avoid in Ataxia-telangiectasia pts

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

30

Chronic Granulomatous disease pts are deficient in what enzyme

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

31

Test for Chronic Granulomatous disease?

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

32

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

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

33

Tx for chronic granulomatous dz

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

34

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

Chediak-Higashi syndrome

35

what gene defective in Chediak-higashi

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

36

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

Giant cytoplasmic granules in PMNs

37

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

Hyperimmunoglobulin E syndrome (Job syndrome)

think about Job covered in boils

38

what is deficient in Hyperimmunoglobulin E

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

39

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

Leukocyte Adhesion Deficiency syndrome

40

what is defective in Leukocyte Adhesion deficiency syndrome

abnormal integrins--> inability of phagocytes to exit circulation

41

2 rows of teeth

Hyperimmunoglobulin E syndrome (Job syndrome)

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