Congenital Immunodef D/Os Flashcards Preview

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Flashcards in Congenital Immunodef D/Os Deck (13):
1

Bruton Agammaglobilinemia

Boys, B cell def, Bacterial infxns

low levels of ALL Igs
NO B CELLS on smear

2

DiGeorge Sx = Thymic aplasia

NO T CELLS
no PTH

-chrom 22q11 del
-congenital heart/great vessels defects

3

SCID

1. severe recurrent infxns - viral, fungal, bacterial
2. chronic diarrhea
3. FTT

-NO THYMIC SHADOW on newborn CXR
-NO LIVE VACCINES!!!!

4

Wiskott Aldrich Sx

WAITER:

Wiskott
Aldrich
Immunodef
Thrombocytopenia and purpura
Eczema
Recurrent pyogenic infxns

5

Ataxia-telangiectasia

-IgA def
-cerebellar ataxia and poor smooth pursuit
-telangiectasias of face > 5yo
-increased cancer: lymphoma, acute leukemia
-increased AFP if >8mos

6

IgA def

-sinus and lung infxns and GIARDIA!!!
-atopy, asthma
-anaphylaxis to blood transfusions and blood pdts

7

Chronic granulomatous Dz

-no NADPH oxidase activity
-catalase organisms: S aureus, E coli, Klebsiella, Aspergillus, Candida
-Negative NBT test (remains yellow)

-ppx TMP-SMX
-IFN-alpha helps

8

Chediak-Higashi Dz

defective phagocyte lysosome
-PMNS with giant cytopasmic granules!!! w/ no degradative enzyme

1. partial albinism
2. recurrent resp tract and skin infxns
3. neuro d/os

9

Job Sx

Hyper E syndrome
-deficient IFN-gamma
-PMNs not respond to chemotactic stimuli
-HIGH IgE and eosinophils

1. eczema
2. recurrent cold Staph aureus abscesses
3. coarse facial features - broad nose, frontal bossing, deep set eyes, doughy skin

-2 rows of teeth

10

Leukocyte adhesion Sx

abnl integrins -- phagocytes cannot exit circ
-delayed sep of umbilicus

11

Chronic mucocutaneous candidiasis

T cell dysfxn
-Rx: antifungals

12

C3 deficiency

recurrent infxns w/ encapsulated bacteria shortly after birth

gonococcal, meningococcal

13

Complement overconsumption found in...

vasculitis, GN, certain CT dz eg SLE

-think about Ab-antigen complexes