Allergy/Imm + Heme/Onc

Question 1

DRESS syndrome:

Answer 1

(drug rash, eosinophilia, systemic sx)

erythema multiforme w/ eosinophilia + systemic sx, usually due to anticonvulsants

Question 2

Maternal IgG passes to fetus via ___ and lasts ____. IgA passes via ___

Answer 2

IgG via placenta (lasts 3-6 months)

IgA via breast milk

Question 3

Chronic granulmatous disease:
cause?
presentation?
dx?

Answer 3

XR ∆NADPH oxidase → phagocytic defect

recurrent abscesses

Dx nitroblue tetrazolium (NBT) test

Question 4

Wiskott-Aldrich syndrome:
inheritance pattern?
presentation?
dx?

Answer 4

XR

thrombocytopenia (petechiae), recurrent infx, eczema

Dx CBC (↓plt), ↓IgM, ↑IgA, ↑IgE

Question 5

Bruton agammaglobulinemia: 
cause?
presentation?
dx?
tx?

Answer 5

XR B-cell defect → lack of all Ig types

recurrent bacterial infx (OM, PNA, etc.) after 6 months since mom’s Ig confers passive immunity

Dx ↓serum Ig levels

Tx repeated IVIG

Question 6

T-cell defect:
cause?
dx?

Answer 6

likely DiGeorge syndrome (CATCH-22)

Dx intradermal Candida test

Question 7

Combined variable immunodeficiency:
cause?
presentation?
a/w?

Answer 7

acquired B-cell defect (>10 y/o)

lack of all Ig types but normal B-cell levels

↑risk of lymphomas

Question 8

SCID (“bubble boy disease”):
cause?
presentation?
tx?

Answer 8

XR or AR ∆adenosine deaminase → lymphocytes can’t make DNA to proliferate (**both B- and T-cells)

no T/B cells = severe infx → death at young age

Tx bone marrow txp

Question 9

Job syndrome: presentation?

Answer 9

FATED – coarse Facies, Abscesses, retained primary Teeth, ↑↑IgE, Derm issues (eczema)

Question 10

Asplenia:
presentation?
dx?

Answer 10

recurrent encapsulated bacterial infx (SHiN – Strep pneumo, H. influenza, Neisseria)
*common in SCD kids

Dx CBC w/ smear (Howell-Jolly bodies)

Question 11

Hereditary angioedema:
cause?
presentation?

Answer 11

AD ∆C1 esterase inhibitor → random activation of complement pathway

recurrent episodes of edema w/ positive family hx

Question 12

IgA deficiency:
presentation?
dx?

Answer 12

recurrent respiratory infx + diarrhea + anaphylatic transfusion rxns (reacts to donor serum IgA)

Dx ↓IgA

Question 13

Complement deficiency:
cause/presentation?
dx?

Answer 13

C5-C9 deficiency predisposes to recurrent Neisseria infx

Dx CH50 test

Question 14

Juvenile rheumatoid arthritis (Still disease):
type __ hypersensitivity
tx?

Answer 14

RF+ (anti-IgG Fc domain) → type 3 HS

Tx NSAIDs > MTX > PO steroids

Question 15

Polyarticular JRA =
Pauciarticular JRA=
    dx?
    tx?
Systemic JRA: presentation?

Answer 15

Polyarticular JRA: >5 joints

Pauciarticular JRA: 0-4 joints, can present w/ anterior uveitis (iridocyclitis)

• • Dx slit-lamp eye exam
• • Tx PO/OU steroids

Systemic JRA: systemic sx prior to arthritis, rheumatoid rash, high spiking fevers

Question 16

Juvenile dermatomyositis:
presentation?
dx?

Answer 16

presents w/ progressive muscle weakness, skin rash, fatigue

Dx ↑CPK

Question 17

Neonatal lupus:

Answer 17

• • skin lesions (maternal ab-ag complexes cross placenta)

- - 3° heart block (anti-SSA attacks fetal heart conduction)

Question 18

Systemic lupus erythematosus (SLE):
type __ HS
dx?
tx?

Answer 18

3

Dx screen w/ ANA, confirm w/ anti-dsDNA or anti-Smith (also: has incr IgG)

Tx low-dose aspirin

Question 19

ITP:
presentation?
dx?
tx?

Answer 19

autoantibodies against gpIIb/IIIa → platelet sequestration in spleen → petechiae, purpura

Dx ↓plt/↑MKC

Tx RhoGAM (if Rh+), IVIG (if Rh-), steroids (2nd line), splenectomy (if severe)

Question 20

Fanconi anemia:
cause?
presentation?
tx?

Answer 20

AR ∆DNA repair genes → aplastic anemia + short stature, hypopigmented areas, eye/ear deformities

Tx androgens + hematopoietic drugs (EPO, neupogen, etc.)

Question 21

Anemia of prematurity:
dx?
tx?

Answer 21

MCC anemia in premature and SGA infants

Dx CBC shows profound anemia w/ ↓reticulocytes

Tx iron supplements

Question 22

Transient erythroblastopenia of childhood:
dx?
tx?

Answer 22

RBC aplasia in children following a viral infx

Dx CBC shows profound anemia w/ no reticulocytes

Tx supportive care (lasts 1-2 months, may need pRBCs)

Question 23

Blackfan-Diamond anemia: presentation?

Answer 23

macrocytic RBC aplasia + short stature, webbed neck, cleft lip, shield chest, triphalangeal thumbs

Question 24

MC organism?
Sickle cell + sepsis:
Sickle cell + osteomyelitis:
Sickle cell + aplastic crisis:

Answer 24

Sickle cell + sepsis: Strep pneumo

Sickle cell + osteomyelitis: Salmonella

Sickle cell + aplastic crisis: Parvo B19

Question 25

Sickle cell trait: presentation? dx?

Answer 25

MC sx is painless gross hematuria Dx Hb electrophoresis shows HbS of 35-40%

Question 26

Barts disease pathyphys? presentation? dx?

Answer 26

4 α-chain deletion → fetal hydrops Dx post-mortem autopsy

Question 27

``` HbH disease pathyphys? presentation? dx? tx? ```

Answer 27

3 α-chain deletion → severe anemia sx  Dx screen w/ CBC (microcytic anemia + ↓RDW), confirm w/ ↑HbH Tx frequent transfusions

Question 28

``` β-thalassemia major pathyphys? presentation? dx? tx? ```

Answer 28

homozygous ∆β-chain → severe anemia sx  Dx screen w/ CBC (microcytic anemia + ↓RDW), confirm w/ ↑HbF Tx frequent transfusions 

Question 29

β-thalassemia minor pathyphys? presentation? dx?

Answer 29

heterozygous ∆β-chain → mild anemia sx Dx screen w/ CBC (microcytic anemia + ↓RDW), confirm w/ ↑HbA2 Tx reassurance

Question 30

Kasabach-Merritt phenomenon: pathyphys? tx?

Answer 30

large vascular anomalies (kaposiform hemangioendothelioma, tufted angioma) sequester RBCs, platelets, and clotting factors → anemia, thrombocytopenia, coagulopathy Tx steroids + IFN-α

Question 31

ALL: pathophys? Dx? Tx? ALL prognosis: good? poor?

Answer 31

pre-B-cell proliferation (CALLA+/TdT+) → infiltration of RES (LAD, splenomegaly) + BM (pancytopenia) Dx bone marrow bx shows >25% lymphoblasts Tx chemotherapy good px w/ age 1-10, hyperdiploidy, WBC <50, and TEL/AML1 on t(12;21) poor px w/ Philadelphia chromosome on t(9;22)

Question 32

Hodgkin lymphoma: presentation? dx? tx?

Answer 32

B-cell proliferation into Reed-Sternberg cells → B-type sx (fever, weight loss, night sweats) Dx CXR to look for mediastinal mass then LN bx Tx chemotherapy

Question 33

Langerhans cell histiocytosis: presentation?

Answer 33

Langerhans cell proliferation → eosinophilic granuloma → painful, solitary lytic bone lesion (MC site is skull)

Question 34

Hereditary spherocytosis: dx? tx?

Answer 34

AR ∆spectrin → hemolytic anemia + jaundice in newborn Dx CBC shows spherocytes + abnormal osmotic fragility test Tx splenectomy

Question 35

Von Willebrand disease: dx? tx?

Answer 35

AD ∆vWF → MCC hemorrhagic diathesis Dx vWF levels + activity (ristocetin cofactor activity) Tx DDAVP

Question 36

Tumor lysis syndrome: labs? dx? tx?

Answer 36

lysis of cancer cells → hyperkalemia + hyperuricemia + renal failure Dx renal panel + ↑uric acid Tx allopurinol

Question 37

Cause of Dactylitis in Sickle Cell: Acute chest syndrome in SC: presentation? tx?

Answer 37

sickle cell anemia → vaso-occlusion → vascular necrosis of metacarpals/metatarsals → acute onset painful swelling of hands and feet PNA-like presentation Dx CXR shows infiltrate Tx azithromycin + ceftriaxone