Peds Immunology Flashcards
X-linked agammaglobulinemia
dec B-cells with
dec immunoglobulins
DDx CVID which is normal B-cells
Common variable immunodeficiency
normal B-cells with
dec immunoglobulins
ddx. X-linked agammaglobulinemia which is dec B-cells
IgA deficiency
normal B cells
dec IgA
Hyper IgM
Normal B-cells
dec IgA
dec IgG
Inc IgM
IgG def
normal B cells
dec IgG
Hyper IgM defect
defect in CD40 ligand
Hyper IgM inheritance pattern
X-linked
Doll-like face (fat cheeks)
thin extremities
protuberant abdomen (from enlarged liver)
lactic acidosis and low sugar
Von-Gierkes (Glucose 6 Phosphate deficiency)
Acid Maltase Deficiency
Pompes Disease
Pompes
Acid maltase Glucose 1,4 glucosidase
Pompes presentation
macroglossia and floppy baby and heart failure
Type 3 glycogen storage Cori’s
just like type 1 Von-Geirkes but labs have elevated LFTs and ketoacidosis
Type 4 McArdles?
Progressive cirrhosis of the liver
recurrent sinus infx from H Infl and Strep Pneumo
Giardia infx from IgA deficiency
B-Lymphocyte maturation problem
B-Lymphocyte problem
Loss of IgA
problem in Chronic Granulomatous Disease
impaired oxidative metabolism
defect in NADPH-oxidase
susceptible to catalase organisms (Aspergillus, Staph, Kleb, Seratia, Burkholderia)
complement deficiency infx
Gonococcal and meningococcal
T-cell deficiency infx
viral and fungal infx
(DiGeorge) thymic aplasia
SCID deficiency
Adenosine deaminase resulting in B and T cell deficiencies
serum sickness is what hypersensitivity response
Type 3
what may indicate serum sickness
fever,
urticaria (hives)
polyarthralgia
which hypersensitivity appears immediately after exposure
Type 1
Non-Hodgkin Lymphoma
unexplained fever
weight loss
intestinal obstruction
unexplained fever
weight loss
intestinal obstruction
Non-Hodgkin Lymphoma
chronic granulomatous disease cause
dysfunction in NADPH oxidase. Susceptible to catalase positive organisms
lymphadenopathy hypergammaglobulinemia hepatomegally & spleenomegaly AOCD chronic diarrhea and dermatitis
How to diagnose CGD
Nitroblue Tetrazolium slide test
Flow cytometry
Cytochrome C reduction
Treatment for CGD
TMP-SMX
Gamma-Interferon
All of this three times a week
Chediak-Higashi
recurrent infections from decreased degranulation and chemotaxis
Neutropenia and Giant Lysosomes
Oculocutaneous Albinism
Chediak-Higashi Tx
TMP-SMX
daily ascorbic acid
Leukocyte Adhesion Defect
Why and How does it present
Neutrophilia without polymorphs in the pus (failure to localize from defective tethering and adhesion)
Delayed separation of umbilical cord, necrotic skin lesions, severe gingivitis
Hyper-IgE
recurrent staph infections in skin and lungs
chronic pruritic dermatitis
(elevated IgE too)
Kawasaki complication
aseptic meningitis
Kawasaki prodrome?
tx?
conjunctivitis lympadenopathy desquamation of hands strawberry tongue coronary artery anyeurism
Aspirin and IVIG
what is Reyes syndrome
?
HSP
2/4
What is HSP complication
intussuception
sail sign on x-ray
thymus… if missing… think DiGeorge
anterior mediastinal mass
thymoma and lymphoma
residual thymus tissue associated with what
may convert to thymoma in myasthenia gravis
Burkitt Lymphoma
Rapidly growing B-Cell tumor, may present as intussuception
most common SCID infections
Pneumocystis Jiroveci,
Candida,
parainfluenza,
HSV
compliment deficiency results in what infx
encapsulated bacteria
DiGeorge presentation and embryology
failure of 3 & 4th pouches = aplastic thymus and no parathyroids = hypocalcemic seizures
IgA deficiency and transfusions
may be predisposed to transfusion reactions due to IgA antibodies
X-linked agammaglobulinemia
Bruton’s
lacks B-cells and therefore all classes of Ig
Bruton’s infections
Sinopulminary and Pseudomonas are common
Hyper IgM infections
Giardia and recurrent sinopulminary infections
IgA def. may also have Giardia infx
agammaglobulinemia diagnostic test
flow cytometry
