Allergy/Imm + Heme/Onc Flashcards
DRESS syndrome:
(drug rash, eosinophilia, systemic sx)
erythema multiforme w/ eosinophilia + systemic sx, usually due to anticonvulsants
Maternal IgG passes to fetus via ___ and lasts ____. IgA passes via ___
IgG via placenta (lasts 3-6 months)
IgA via breast milk
Chronic granulmatous disease:
cause?
presentation?
dx?
XR ∆NADPH oxidase → phagocytic defect
recurrent abscesses
Dx nitroblue tetrazolium (NBT) test
Wiskott-Aldrich syndrome:
inheritance pattern?
presentation?
dx?
XR
thrombocytopenia (petechiae), recurrent infx, eczema
Dx CBC (↓plt), ↓IgM, ↑IgA, ↑IgE
Bruton agammaglobulinemia: cause? presentation? dx? tx?
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
T-cell defect:
cause?
dx?
likely DiGeorge syndrome (CATCH-22)
Dx intradermal Candida test
Combined variable immunodeficiency:
cause?
presentation?
a/w?
acquired B-cell defect (>10 y/o)
lack of all Ig types but normal B-cell levels
↑risk of lymphomas
SCID (“bubble boy disease”):
cause?
presentation?
tx?
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
Job syndrome: presentation?
FATED – coarse Facies, Abscesses, retained primary Teeth, ↑↑IgE, Derm issues (eczema)
Asplenia:
presentation?
dx?
recurrent encapsulated bacterial infx (SHiN – Strep pneumo, H. influenza, Neisseria)
*common in SCD kids
Dx CBC w/ smear (Howell-Jolly bodies)
Hereditary angioedema:
cause?
presentation?
AD ∆C1 esterase inhibitor → random activation of complement pathway
recurrent episodes of edema w/ positive family hx
IgA deficiency:
presentation?
dx?
recurrent respiratory infx + diarrhea + anaphylatic transfusion rxns (reacts to donor serum IgA)
Dx ↓IgA
Complement deficiency:
cause/presentation?
dx?
C5-C9 deficiency predisposes to recurrent Neisseria infx
Dx CH50 test
Juvenile rheumatoid arthritis (Still disease):
type __ hypersensitivity
tx?
RF+ (anti-IgG Fc domain) → type 3 HS
Tx NSAIDs > MTX > PO steroids
Polyarticular JRA =
Pauciarticular JRA=
dx?
tx?
Systemic JRA: presentation?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
Juvenile dermatomyositis:
presentation?
dx?
presents w/ progressive muscle weakness, skin rash, fatigue
Dx ↑CPK
Neonatal lupus:
- skin lesions (maternal ab-ag complexes cross placenta)
- - 3° heart block (anti-SSA attacks fetal heart conduction)
Systemic lupus erythematosus (SLE):
type __ HS
dx?
tx?
3
Dx screen w/ ANA, confirm w/ anti-dsDNA or anti-Smith (also: has incr IgG)
Tx low-dose aspirin
ITP:
presentation?
dx?
tx?
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)
Fanconi anemia:
cause?
presentation?
tx?
AR ∆DNA repair genes → aplastic anemia + short stature, hypopigmented areas, eye/ear deformities
Tx androgens + hematopoietic drugs (EPO, neupogen, etc.)
Anemia of prematurity:
dx?
tx?
MCC anemia in premature and SGA infants
Dx CBC shows profound anemia w/ ↓reticulocytes
Tx iron supplements
Transient erythroblastopenia of childhood:
dx?
tx?
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)
Blackfan-Diamond anemia: presentation?
macrocytic RBC aplasia + short stature, webbed neck, cleft lip, shield chest, triphalangeal thumbs
MC organism?
Sickle cell + sepsis:
Sickle cell + osteomyelitis:
Sickle cell + aplastic crisis:
Sickle cell + sepsis: Strep pneumo
Sickle cell + osteomyelitis: Salmonella
Sickle cell + aplastic crisis: Parvo B19
Sickle cell trait:
presentation?
dx?
MC sx is painless gross hematuria
Dx Hb electrophoresis shows HbS of 35-40%
Barts disease
pathyphys?
presentation?
dx?
4 α-chain deletion → fetal hydrops
Dx post-mortem autopsy
HbH disease pathyphys? presentation? dx? tx?
3 α-chain deletion → severe anemia sx

Dx screen w/ CBC (microcytic anemia + ↓RDW), confirm w/ ↑HbH
Tx frequent transfusions
β-thalassemia major pathyphys? presentation? dx? tx?
homozygous ∆β-chain → severe anemia sx

Dx screen w/ CBC (microcytic anemia + ↓RDW), confirm w/ ↑HbF
Tx frequent transfusions

β-thalassemia minor
pathyphys?
presentation?
dx?
heterozygous ∆β-chain → mild anemia sx
Dx screen w/ CBC (microcytic anemia + ↓RDW), confirm w/ ↑HbA2
Tx reassurance
Kasabach-Merritt phenomenon:
pathyphys?
tx?
large vascular anomalies (kaposiform hemangioendothelioma, tufted angioma) sequester RBCs, platelets, and clotting factors → anemia, thrombocytopenia, coagulopathy
Tx steroids + IFN-α
ALL:
pathophys?
Dx?
Tx?
ALL prognosis: good? poor?
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)
Hodgkin lymphoma:
presentation?
dx?
tx?
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
Langerhans cell histiocytosis: presentation?
Langerhans cell proliferation → eosinophilic granuloma → painful, solitary lytic bone lesion (MC site is skull)
Hereditary spherocytosis:
dx?
tx?
AR ∆spectrin → hemolytic anemia + jaundice in newborn
Dx CBC shows spherocytes + abnormal osmotic fragility test
Tx splenectomy
Von Willebrand disease:
dx?
tx?
AD ∆vWF → MCC hemorrhagic diathesis
Dx vWF levels + activity (ristocetin cofactor activity)
Tx DDAVP
Tumor lysis syndrome:
labs?
dx?
tx?
lysis of cancer cells → hyperkalemia + hyperuricemia + renal failure
Dx renal panel + ↑uric acid
Tx allopurinol
Cause of Dactylitis in Sickle Cell:
Acute chest syndrome in SC:
presentation?
tx?
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
