Peds Immunology

Question 1

X-linked agammaglobulinemia

Answer 1

dec B-cells with
dec immunoglobulins

DDx CVID which is normal B-cells

Question 2

Common variable immunodeficiency

Answer 2

normal B-cells with
dec immunoglobulins

ddx. X-linked agammaglobulinemia which is dec B-cells

Question 3

IgA deficiency

Answer 3

normal B cells

dec IgA

Question 4

Hyper IgM

Answer 4

Normal B-cells
dec IgA
dec IgG
Inc IgM

Question 5

IgG def

Answer 5

normal B cells

dec IgG

Question 6

Hyper IgM defect

Answer 6

defect in CD40 ligand

Question 7

Hyper IgM inheritance pattern

Answer 7

X-linked

Question 8

Doll-like face (fat cheeks)
thin extremities
protuberant abdomen (from enlarged liver)

lactic acidosis and low sugar

Answer 8

Von-Gierkes (Glucose 6 Phosphate deficiency)

Question 9

Acid Maltase Deficiency

Answer 9

Pompes Disease

Question 10

Pompes

Answer 10

Acid maltase Glucose 1,4 glucosidase

Question 11

Pompes presentation

Answer 11

macroglossia and floppy baby and heart failure

Question 12

Type 3 glycogen storage Cori’s

Answer 12

just like type 1 Von-Geirkes but labs have elevated LFTs and ketoacidosis

Question 13

Type 4 McArdles?

Answer 13

Progressive cirrhosis of the liver

Question 14

recurrent sinus infx from H Infl and Strep Pneumo

Giardia infx from IgA deficiency

Answer 14

B-Lymphocyte maturation problem

Question 15

B-Lymphocyte problem

Answer 15

Loss of IgA

Question 16

problem in Chronic Granulomatous Disease

Answer 16

impaired oxidative metabolism

defect in NADPH-oxidase

susceptible to catalase organisms (Aspergillus, Staph, Kleb, Seratia, Burkholderia)

Question 17

complement deficiency infx

Answer 17

Gonococcal and meningococcal

Question 18

T-cell deficiency infx

Answer 18

viral and fungal infx

(DiGeorge) thymic aplasia

Question 19

SCID deficiency

Answer 19

Adenosine deaminase resulting in B and T cell deficiencies

Question 20

serum sickness is what hypersensitivity response

Answer 20

Type 3

Question 21

what may indicate serum sickness

Answer 21

fever,
urticaria (hives)
polyarthralgia

Question 22

which hypersensitivity appears immediately after exposure

Answer 22

Type 1

Question 23

Non-Hodgkin Lymphoma

Answer 23

unexplained fever
weight loss
intestinal obstruction

Question 24

unexplained fever
weight loss
intestinal obstruction

Answer 24

Non-Hodgkin Lymphoma

Question 25

chronic granulomatous disease cause

Answer 25

dysfunction in NADPH oxidase. Susceptible to catalase positive organisms ``` lymphadenopathy hypergammaglobulinemia hepatomegally & spleenomegaly AOCD chronic diarrhea and dermatitis ```

Question 26

How to diagnose CGD

Answer 26

Nitroblue Tetrazolium slide test Flow cytometry Cytochrome C reduction

Question 27

Treatment for CGD

Answer 27

TMP-SMX Gamma-Interferon All of this three times a week

Question 28

Chediak-Higashi

Answer 28

recurrent infections from decreased degranulation and chemotaxis Neutropenia and Giant Lysosomes Oculocutaneous Albinism

Question 29

Chediak-Higashi Tx

Answer 29

TMP-SMX | daily ascorbic acid

Question 30

Leukocyte Adhesion Defect Why and How does it present

Answer 30

Neutrophilia without polymorphs in the pus (failure to localize from defective tethering and adhesion) Delayed separation of umbilical cord, necrotic skin lesions, severe gingivitis

Question 31

Hyper-IgE

Answer 31

recurrent staph infections in skin and lungs chronic pruritic dermatitis (elevated IgE too)

Question 32

Kawasaki complication

Answer 32

aseptic meningitis

Question 33

Kawasaki prodrome? tx?

Answer 33

``` conjunctivitis lympadenopathy desquamation of hands strawberry tongue coronary artery anyeurism ``` Aspirin and IVIG

Question 34

what is Reyes syndrome

Answer 34

?

Question 35

HSP

Answer 35

2/4

Question 36

What is HSP complication

Answer 36

intussuception

Question 37

sail sign on x-ray

Answer 37

thymus... if missing... think DiGeorge

Question 38

anterior mediastinal mass

Answer 38

thymoma and lymphoma

Question 39

residual thymus tissue associated with what

Answer 39

may convert to thymoma in myasthenia gravis

Question 40

Burkitt Lymphoma

Answer 40

Rapidly growing B-Cell tumor, may present as intussuception

Question 41

most common SCID infections

Answer 41

Pneumocystis Jiroveci, Candida, parainfluenza, HSV

Question 42

compliment deficiency results in what infx

Answer 42

encapsulated bacteria

Question 43

DiGeorge presentation and embryology

Answer 43

failure of 3 & 4th pouches = aplastic thymus and no parathyroids = hypocalcemic seizures

Question 44

IgA deficiency and transfusions

Answer 44

may be predisposed to transfusion reactions due to IgA antibodies

Question 45

X-linked agammaglobulinemia

Answer 45

Bruton's lacks B-cells and therefore all classes of Ig

Question 46

Bruton's infections

Answer 46

Sinopulminary and Pseudomonas are common

Question 47

Hyper IgM infections

Answer 47

Giardia and recurrent sinopulminary infections | IgA def. may also have Giardia infx

Question 48

agammaglobulinemia diagnostic test

Answer 48

flow cytometry