8/10/2019 Nutritional Disorders Review - Part 2 - And Primary Immunodeficiency Disorders
1/20
2013
NUTRITIONAL
DISORDERS
REVIEW
-Part
2
and
PRIMARY
IMMUNODEFICIENCY
DISORDERS
REVIEW
Barbara
D.
Bosch,
M.D.
8/10/2019 Nutritional Disorders Review - Part 2 - And Primary Immunodeficiency Disorders
2/20
2013
Nutritional
Disorders
Review
Part
2
and
Primary Immunodeficiency
Disorders
Review;
Barbara
D.
Bosch,
M.D page
2
References for
USMLE
Step
1
-format
questions
(with
modifications):
Catalano E.
Appleton
&
Lanqe
Review
of General
Pathology.
4th ed.
McGraw
Hill Medical,
2003.
Fenderson
BA,
Strayer
DS,
Rubin R, Rubin
E. Illustrated Q&A
Review
of Rubin 's
Pathology,
2nd
ed.
Lippincott
Williams
&
Wilkins, 201
1
.
Goldberg J.
Lanqe
Practice Tests
USMLE
Step
1,
2nd ed. McGraw
Hill
Medical,
2006.
Kettering JD,
Fletcher
HM .
PreTest
Microbiology,
12th
ed. McGraw
Hill
Medical,
2007.
King
MW. Lanae
Q&A
USMLE
Step
1.
6,h
ed . McGraw
Hill
Medical,
2008.
Klatt
EC,
Kumar V. Robbins and
Cotran
Review
of
Pathology,
3rd ed . Saunders
Elsevier,
2010.
Klein
RM,
Enders
GC. PreTest
Anatomy, Histology
&
Cell
Biology.
3rd ed.
McGraw Hill
Medical,
2007.
Le
T,
Klein
J,
Shivaram
A.
First Aid
Q&A
for
the
USMLE
Step
1
McGraw
Hill
Medical,
2007.
Le
T,
Krause
K, Klein
J,
Shivaram A. First
Aid
Cases
fo r the USMLE
Step
1.
McGraw
Hill
Medical,
2006.
Mufson M.
PreTest
Pathophysiology,
3rd
ed.
McGraw Hill Medical, 2005.
PreTest
Clinical
Vignettes
fo r the USMLE
Step
1,
4th
ed .
McGraw Hill
Medical,
2008.
Wilson
GN.
PreTest
Biochemistry
and
Genetics.
3rd
ed.
McGraw
Hill
Medical,
2007.
8/10/2019 Nutritional Disorders Review - Part 2 - And Primary Immunodeficiency Disorders
3/20
2013
Nutritional
Disorders Review
-
Part
2 and Primary
Immunodeficiency
Disorders
Review; Barbara D. Bosch,
M.D.
page 3
A
37 year-old woman
with a 20-year history of Crohn
disease
(a
chronic
inflammatory
bowel
disease which
frequently
affects the terminal
ileum)
presents
to
her
primary
care
physician
complaining of fatigue.
Physical examination reveals
tachycardia,
pale
conjunctivae,
and
a
sore,
smooth,
red
tongue.
Relevant
laboratory findings
include
a
hematocrit
of
21
(normal
36-
46 ), with a mean
corpuscular
volume
of
105
fL (normal
80-100
fL).
A
slide
of
her
peripheral
blood
smear is
provided
below.
Deficiency
of which of the following
vitamins is
most likely?
A.
ascorbic
acid
B.
calcitriol
C. cobalamin
D.
folic
acid
E.
niacin
F.
pyridoxine
G. retinol
H.
thiamine
I.
vitamin
K
So
.
o
&
If
this
patient's
vitamin deficiency is
not
corrected,
which
of the following neurological signs
/
symptoms
would be most
likely
to
develop?
A. confabulation
and
anterograde
amnesia
B.
horizontal
gaze
palsy and
nystagmus
C.
paresthesias
and
gait instability
D.
proximal
extremity
and facial muscleweakness
E.
upper
extremity
resting
tremor
and
rigidity
8/10/2019 Nutritional Disorders Review - Part 2 - And Primary Immunodeficiency Disorders
4/20
2013 Nutritional Disorders Review
Part
2 and
Primary
Immunodeficiency
Disorders
Review;
Barbara D.
Bosch,
M.D
page
4
What
pathologic
feature below is
associated with
the
neurological findings of
vitamin
B12
deficiency?
A.
cerebellar
atrophy
B. demyelination
of
the posterolateral
columns of
the
spinal
cord
C.
hemorrhage
in
the
mammillary bodies
D.
neuronal degeneration
of the
basal
ganglia
E. spinal
cord
compression
Which
of the
following
laboratory
results would support a
diagnosis
of
cobalamin (vitamin
B12)
deficiency?
A.
decreased
level
of
lactate
dehydrogenase
B.
elevated level of methylmalonic acid
C. elevated WBC count
D.
hypochromic
microcytic
anemia
E.
prolonged prothrombin
time
Another
frequent
cause of vitamin
Bi2
deficiency
is autoimmune
chronic atrophic gastritis,
which
results in
mucosal
destruction
of the fundus
and body
of
the
stomach. What is the function of
the
protein that
is
diminished in this disease process?
A.
binding free vitamin
Bi2
in
ileal
cells for transport
through
the
bloodstream
B. binding free vitamin
Bi2
in the small intestine
and then to
ileal
receptors
C.
binding
free
vitamin
Bi2
in
the stomach
D.
splitting
R-protein
/
vitamin
Bi2
complexes
in
the
duodenum
E.
splitting vitamin
B12
from its
exogenous
ingested
protein-bound form
8/10/2019 Nutritional Disorders Review - Part 2 - And Primary Immunodeficiency Disorders
5/20
2013 Nutritional Disorders
Review
-
Part 2 and
Primary
Immunodeficiency Disorders Review; Barbara D. Bosch,M.D.
page
5
Vitamin
B12
-
Cobalamin
(water-soluble
vitamin)
sources
(exclusively synthesized by
microorganisms)
meats,
eggs
and
dairy
products
absorption
and
transport
vitamin
Bi2
cleaved from its exogenous
protein-bound
form by
pepsin
and
complexed
with salivary
R-binders
(stomach)
complexes
lysed
by
pancreatic
proteases
and
vitamin
B12
bound
to
intrinsic
factor (duodenum)
IF
receptor-mediated
absorption
(distal
ileum)
=t>
vitamin
B12
bound to transcobalamin
II (plasma)
o
uptake by
cells of the
body
storage
liver
(amounts
can
last for several
years)
Dial
8/10/2019 Nutritional Disorders Review - Part 2 - And Primary Immunodeficiency Disorders
6/20
2013 Nutritional Disorders
Review -
Part
2
and
Primary
Immunodeficiency
Disorders
Review;
Barbara
D.
Bosch,
M.D.
page
6
major biologic functions
methylcobalamin
-
cofactor
for methionine synthase
(necessary to
convert
homocysteine into
methionine)
and, in
the
process,
loses
its
methyl
group
which
is
donated by
methyltetrahydrofolic
acid
to
form
tetrahydrofolic
acid
(active form of
folate)
adenosylcobalamin -
cofactor
for
methylmalonyl-CoA
mutase
causes of deficiency
*
I'd
absorption
(e.g., i d
gastric
or pancreatic exocrine
function; i d
production
of intrinsic
factor, such
as
with autoimmune
chronic
atrophic gastritis [pernicious anemia];
i leal resection or
disease)
i d
intake
(rare)
competition
for dietary
vitamin
B12
(e.g.,
fish
tapeworm
infestation)
t'd requirement (e.g.,
pregnancy)
pathogenesis of
megaloblastic
changes
vitamin
B12
deficiency
=>
trapping
of folate
in
its
methylated
form
=>
impairment
of
thymidine,
and
ultimately
DNA,
synthesis
=>
defective
nuclear
maturation
and delayed cell division
in
rapidly
proliferating
cell
types
(e.g.,
erythrocytes)
features
of
deficiency
megaloblastic anemia
and
megaloblastic changes
(epithelium)
CNS myelin
degeneration,
especially in
the
posterolateral
columns
of
the spinal cord
(subacute
combined
degeneration)
=>
paresthesias, loss of vibratory
/ position
sensation,
and
weakness, especially of
the
distal
extremities
dUMP
N5
10-Methylene
FH4
X
dTMP
Thymidylate
Synthetase
Homocysteine
Methionine
Synthase
Methionine
8/10/2019 Nutritional Disorders Review - Part 2 - And Primary Immunodeficiency Disorders
7/20
8/10/2019 Nutritional Disorders Review - Part 2 - And Primary Immunodeficiency Disorders
8/20
2013
Nutritional
Disorders
Review
- Part
2
and Primary
Immunodeficiency Disorders
Review:
Barbara
D.
Bosch,
M.D.
page
8
A
newborn
girl
is born with
a small
mouth,
rather
widely
spaced
eyes and low-set
ears.
Genetic
analysis
shows a
microdeletion
on
chromosome 22q1
1
.2
leading
to
a diagnosis
of an anomaly
which
results
from failure
of
the
normal development
of the third and
fourth
branchial
pouches
during
embryonic
development.
Which
of the following
could
also
be
expected
in
a
child with
this
anomaly?
A.
absence of
serum
immunoglobulins
B. excess
activity
of osteoclasts
C. increased numbers of cells
in
the
deep
cortex
of
the lymph nodes
D. increased
serum Ca2+
levels
E.
tetany
A
neonate
who
is
born with
a
cleft
palate
and
abnormal facies becomes cyanotic
and
hypoxic
soon after birth. On
physical examination,
the neonatologist
hears a crescendo-decrescendo
murmur with a harsh systolic ejection.
Further
investigation
shows tetralogy
of
Fallot.
Laboratory
tests reveal
that the
patient
is
hypocalcemic.
This
infant most likely
has
which o f the
following
conditions?
A. Bruton
agammaglobulinemia
B. chronic granulomatous
disease
C.
DiGeorge
syndrome
D.
severe
combined
immunodeficiency
E. Wiskott-Aldrich syndrome
If
you were to
look
at this newborn's
spleen,
which of the
following
regions
would
likely
be
sparsely
cellular?
A.
capsule
B. red pulp cords
C. red pulp sinuses
D.
white
pulp
follicles
E.
white
pulp periarteriolar
lymphoid
sheaths
8/10/2019 Nutritional Disorders Review - Part 2 - And Primary Immunodeficiency Disorders
9/20
2013
Nutritional
Disorders
Review
-
Part 2 and Primary
Immunodeficiency Disorders Review; Barbara D.
Bosch,
M.D. page 9
DiGeorge syndrome
Ithymic hypoplasia
(partial
or complete)
selective
deficiency
of
T
cells and
T
cell-mediated
immunity
due to
defective
development
of the 3rd
and
4th pharyngeal
pouches
(give rise
to
the
thymus,
parathyroid glands, parafollicular
[C ]
cells
of the
thyroid,
aortic
arch,
and
parts
of
the
lips
and ears)
majority due to chromosome
22q11
deletion
hypoplastic or absent
thymus
=t>
defective
T-cell
maturation
(low-normal
lymphocyte
count, paracortical
areas of
lymph
nodes
and
periarteriolar
lymphoid
sheaths
of
spleen
depleted)
=>
I d
cell-mediated
immunity
=>
recurrent
viral,
fungal
and
mycobacterial
infections
absent or rudimentary
parathyroid glands
>
hypocalcemia
=0
tetany
(often in
f irst few
days of life)
congenital
defects of the heart and
great
vessels,
as
well
as facial
abnormalities
occasionally
treated with
transplantation
of
fetal
thymus or thymic epithelium
(often
not
needed)
Splenic
Histology
Spleen
H&E
splenic
sinuses
>
**
Jo
:f,r:
.r
V*
f
j
splenic
cord
macrophage
endothc
\
*
white pulp
white
pulp
8/10/2019 Nutritional Disorders Review - Part 2 - And Primary Immunodeficiency Disorders
10/20
2013
Nutritional
Disorders
Review
-
Part
2 and
Primary
Immunodeficiency
Disorders
Review;
Barbara
D.
Bosch.
M.D.
page
10
A 12
year-old girl
is brought
to
the pediatrician by her
mother
because
of
a fe ver. The
physician
notes
that
the girl
has features of
albinism,
and the
mother states
that
her
daughter has
always
looked
the
way
she
does. The
physician diagnoses
the
girl
with
a
staphylococcal
infection and
prescribes
a
course of antibiotics.
Three
months
later,
the child returns to the
pediatrician
with
a
streptococcal
infection.
The patient's medical
records indicate that
she
has had repeated bouts
of
staphylococcal and streptococcal infections
for
he r entire
life.
Photomicrographs
of
he r
peripheral blood
smear
(left)
and
bone
marrow aspirate (right)
are
included
below.
St
A
,&s\
This
patient
most likely
has
which o f
the
following
types
of immune
deficiency?
A. Chediak-Higashi
syndrome
B.
chronic granulomatous
disease
C.
hyper-IgM syndrome
D. Job
syndrome
E.
selective
IgA
deficiency
F. severe
combined
immunodeficiency
G. Wiskott-Aldrich syndrome
i
8/10/2019 Nutritional Disorders Review - Part 2 - And Primary Immunodeficiency Disorders
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2013 Nutritional
Disorders Review
-
Part
2 and
Primary Immunodeficiency
Disorders
Review;
Barbara D.
Bosch,
M.D. page 11
Chediak-Higashi
syndrome
rare,
autosomal
recessive disease
characterized
by
a defective
membrane-associated,
lysosomal
trafficking
regulator
protein
= >
abnormal organellar synthesis,
trafficking
&/or
fusion
generalized
t'd
fusion
of
cytoplasmic granules in leukocytes (especially
neutrophils),
NK
cells,
melanocytes,
platelets,
and
cells of the nervous
system
enlarged lysosomes
=>
neutropenia
and
impaired
neutrophil
function
(e.g., chemotaxis,
phagocytosis,
phagolysosome
fusion,
microbial
killing)
recurrent
infections,
especially
by
pyogenic
bacteria
partial
oculocutaneous albinism
(due
to
melanin
trapping
in
giant melanosomes)
mild bleeding tendency
(abnormal
dense bodies
in
platelets)
progressive
neurologic
dysfunction
and
eventual accelerated
phase
with
lymphoproliferative
infiltrates
A
7 month-old male infant is
admitted to the
hospital with
chronic diarrhea and an overall
failure
to
thr ive. Review
of his
medical
records
reveals that he
has
had several
episodes
of
bacterial
pneumonia
and oti tis
media,
along with
oral
candidiasis
and herpes
simplex
virus
gingivostomatitis.
Chest
X-ray
reveals
the
absence of
a thymic
shadow,
and both B
and
T
lymphocytes
are
decreased
in
number
in
the
peripheral
blood. Serum
calc ium levels
are within
normal l imi ts . Which
one of
the
following listed
defects
is
associated with the X-linked recessive
form of this infant's
immunodeficiency
disease?
A.
decreased
production
of
NADPH
oxidase
B.
decreased
synthesis
of
adenosine
deaminase in lymphocytes
C.
defects in
the
common gamma
chain
subunit of
interleukin
receptors
D.
mutation
in
the
gene
coding
for
CD40L
E.
mutation
in the
gene
coding
for the Wiskott-Aldrich
syndrome protein
(WASp)
Which
of
the
following
is
the best
therapy for
the
infant
described
above?
A.
bone marrow transplant
B.
IgG
from
pooled
random donors
C. immunization
with
attenuated vaccines
D.
infusion of the
deficient
enzyme
E. thymic
grafting
8/10/2019 Nutritional Disorders Review - Part 2 - And Primary Immunodeficiency Disorders
12/20
2013
Nutritional
Disorders Review - Part
2 and
Primary
Immunodeficiency
Disorders
Review;
Barbara
D.
Bosch,
M.D.
page
12
Severe combined
immunodeficiency diseases
(SCID)
-
heterogeneous
group
profound
deficiency
of BOTH cell-mediated
and
humoral immunity
(although
T-cell
immunity
is
usually
more
severely
affected) due
to
abnormal development &/or
activation
of
both
T
and
B lymphocytes
X-linked recessive form is
the
most common
(50-60 of
cases)
due
to
an
abnormal
gamma chain
shared
by
several
interleukin
receptors
autosomal
recessive fo rms are due to other
abnormal receptor
or
signaling
proteins,
impaired
expression
of
class II MHC molecules
(bare
lymphocyte
syndrome),
or
PNP
or
*
adenosine deaminase (ADA)
deficiencies
(which
result
in
the
accumulation
of
metabolites
toxic to
developing
T
cells)
typical findings
include
virtual
absence of
systemic lymphoid
tissue,
severe
lymphopenia
and
scant
immunoglobulins
if
untreated,
patients generally
die
by 1
year
of age
due
to
multiple,
severe,
recurrent
infections
with al l types
of
pathogens (bacterial,
fungal,
viral,
protozoan)
individuals are
also
extremely
susceptible to graft-versus-host disease
treated
with early
allogeneic stem cell
transplantation
Which one
of the
following complement
component
deficiencies
is associated
with
frequent
pyogenic bacterial
infections?
A. C1q
B.
C1
inhibitor
C. C2
D.
C3
E.
C4
Patients with C5-9
(membrane
attack
complex)
complement
deficiencies
are most
susceptible
to
infections
with
which
of
the following pathogens?
A.
Aspergillus
sp .
B.
Giardia lamblia
C. Neisseria sp .
D.
Staphylococcus
aureus
E,
Streptococcus
sp.
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13/20
Genetic deficiencies of
the
complement system
- rare disorders
C1(q, r or
s),
*
C2
and
C4 deficiencies
autoimmune
&/or
immune
complex
diseases
(e.g.,
lupus-like
disorder,
glomerulonephritis)
C3
deficiency
frequent,
serious,
pyogenic bacterial
infections
C5-9
deficiencies
recurrent
disseminated
infections
by Neisseria
Suspecting an
immune
dysfunction,
further
testing
is
performed.
A
defect
in
which
of the following
would be
most
likely
in
this
patient?
A.
adenosine
deaminase
B.
CD40
ligand
on CD4+
T-helper
cells
C. DNA
repair
enzyme
D.
interferon-y
E.
LFA-1
adhesion proteins
on phagocytes
F.
tyrosine kinase
A 2 year-old
girl
is
brought
to the
pediatrician
for
a routine
visit.
History
reveals recurrent infections and
more
falls
than usual lately.
(Physical
findings
seen
in
this condition
are shown
in
the accompanying
images.)
8/10/2019 Nutritional Disorders Review - Part 2 - And Primary Immunodeficiency Disorders
14/20
2013
Nutritional Disorders
Review
-
Part
2 and
Primary Immunodeficiency
Disorders
Review;
Barbara
D.
Bosch,
M D. page
14
Ataxia-telangiectasia
autosomal
recessive,
multisystem disorder
(due
to
ATM
gene
mutations
and
resultant
chromosomal instability)
ATM protein
plays an
important role in the
recognition
of damaged
DNA
and the
coordination
of its
repair,
in
addition
to
functions related to cell
proliferation
and
normal development
/
activity
of
the nervous and
immune systems
characterized
by
progressive neurologic
dysfunction,
cerebellar
ataxia,
oculocutaneous
telangiectasia,
abnormal
sensitivity
to radiation,
impaired
organ
development,
variable
types
of
immunodeficiency, and
an
T'd
frequency
of
malignancies
A
2
year-old boy has
had
almost continuous
infections since
he was
6 months
old. These
infections have
included otitis
media,
pneumonia
and impetigo.
Organisms cultured
have been
Haemophilus
influenzae,
Streptococcus pneumoniae,
and
Staphylococcus
aureus.
He has a lso
had
diarrhea,
with Giardia
lamblia
cysts identified
in stool specimens.
The family
history
indicates
that an older brother
with
a similar condition
d ied because of
overwhelming
infections.
The
boy's five
sisters
and
both
parents are normal.
Which
o f the
following
laboratory
findings
would
most
like ly be seen in
this boy?
A.
variable loss of cellular immunity
commonly
I'd
IgM,
normal
IgG, T'd IgA and
IgE
characterized
by
recurrent
infections,
bleeding
complications
and
malignancies
(especially lymphomas)
can be treated with
stem
cell
transplantation
Parents of
an
18 month-old
boy
bring
their
child
to a
pediatrician as they are concerned
about
their
son's
recurring skin
and
lung
infections.
Biopsy
of
one
of
the boy's
current
skin
lesions
reveals aggregates of
neutrophils
surrounded
by
a rim
of
large,
eosinophilic, epithelioid
macrophages
(depicted in
the
image below).
Culture
of
the
les ion is positive for
Staphylococcus
aureus.
Which o f the
following
would best account for this
patient's
condition?
A.
absence
of
T-helper
cell
activity
B.
adenosine
deaminase
enzyme
deficiency
C. complement
C3b
opsonization
abnormality
D.
decreased hydrogen
peroxide production
E. defective
macrophage phagocytosis
What
is the
name
of this
disease?
Which of the
following
neutrophil
functions
is
severely
impaired
in
this disorder?
A. adhesion to endothelial
cells
B.
chemotaxis
C.
phagocytosis of
bacteria
D.
phagosome-lysosome fusion
E.
microbial killing
i
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17/20
2013
Nutritional
DisordersReview
-
Part
2
and
Primary
Immunodeficiency Disorders
Review;
Barbara
D. Bosch,M.D.
page 17
Name the
enzyme that is
deficient in
this
disorder.
Why are
streptococcal
infections not
usually found in patients
with
this
disorder?
Chronic
granulomatous
disease
(CGD)
rare disorder
of
neutrophils
characterized
by
a
lack
of respiratoryburst with
phagocytosis
defective
activation
of
membrane NADPH-oxidase
impaired production
of
superoxide
anion during
phagocytosis
deficient
H202
production
in
the
phagolysosome
o
failure
of
H202-MP0-halide
killing
system
(converts
H202
to HOCI
[powerful
oxidant])
-2/3 are X-linked
recessive
(neutrophils
deficient
in
neutrophil
cytochrome b); rest are
autosomal recessive
(other
components
of
NADPH-oxidase
system
affected)
frequent, severe,
chronic bacterial
infections
with
granulomatous
abscesses
of multiple
organs
(including
the subcutaneous
tissue,
lymph
nodes,
lungs,
liver)
infectious pathogens are typically
catalase-positive
bacteria
(e.g.,
Staphylococcus
aureus
,
Serratia,
Salmonella
,
Escherichia
coli)
and
fungi
An 18
year-old
woman
presents
to
your
clinic with a recurrent sinus
infection.
She has also
suffered from
bronchitis,
otitis media
complicated
by meningitis,
diarrhea,
and
pneumonia
over
the
last
year.
You
order serum
studies,
which demonstrate a
markedly
depressed
IgG
level and
subnormal serum
IgA
and IgM
levels.
You
treat the
sinusitis with
antibiotics
and
suggest
IV
gamma
globulin
therapy
for treatment
of
her
underlying condi tion. Which
of
the following would
most
likely
also
be found
in
this
patient?
A.
absence of
lymphoid
germinal centers
B.
failure of phagosome-lysosome fusion within macrophages
C.
lymphadenopathy
D.
lymphocytopenia
E.
negative
nitroblue tetrazolium
dye
reduction test
treatment
includes
y-interferon
8/10/2019 Nutritional Disorders Review - Part 2 - And Primary Immunodeficiency Disorders
18/20
2013
Nutritional
Disorders Review
-
Part
2
and
Primary
Immunodeficiency Disorders
Review;
Barbara
D.
Bosch,
M.D.
page
18
Common variable immunodeficiency disease
(CVID)
-
relatively common, heterogeneous
characterized by
hypogammaglobulinemia
(usually
all immunoglobulins, occasionally
only
IgG)
Sc-Vo .
often
diagnosed
irK{eenagers and
young
adults)
congenital
or
acquired
usually due to an intrinsic B-cell defect
(B
cells can proliferate
in
response
to antigens,
but fail
to
differentiate
into
plasma
cells); occasionally also T-cell
dysfunction
typically a normal
number
of
circulating
B cells with markedly
~ce areas
(lymphoid
follicles)
in
lymph
nodes,
spleen and
Gl
tract (due to
persistent
antigen stimulation),
bu t no
plasma
cells;
non-necrotizing granulomas may also
be seen
recurrent
infections
by
pyogenic
bacteria,
as
well
as
intestinal
infections with Giardia
lambliaCX=*\
\
treated
with
periodic
immunoglobulin
infusions
COMMON VARIABLE
IMMUNODEFICIENCY
DUODENAL
NODULAR LYMPHOID
HYPERPLASIA
(ENDOSCOPY)
S>
associated
with
an T'd f requency of autoimmune diseases
and
lymphoma P
exrakoe
A
x
V.o m
u?\KVifceL.
Bonus questions:
What
is
the
most common primary immunodeficiency in the U.S.?
A 22
year-old man is evaluated
for repeated
episodes
of pulmonary
infections, including
a
recent
one productive of
foul, purulent
sputum
and accompanied
by
shortness
of
breath . Pas t
medical
history
is also significant for chronic
sinus
infections
with
mucopurulent
discharge.
Physical examination
is
remarkable
for
scattered
rhonchi
and
rales
throughout all lung
fields.
Imaging
studies show
abnormally
dilated
and
thickened
airways extending close
to the pleural
surface and
a cardiac
silhouette
in
the right thorax. Bronchoscopy demonstrates
numerous
mucopurulent plugs.
Which
of
the
following
is
most
likely
responsible
for these
findings?
A.
abnormal
neutrophilic function resulting in
impaired degranulation
B.
alpha-1
antiprotease deficiency
(PiZZ
phenotype)
C. cell
membrane
defect
resulting in abnormally
viscous
glandular secretions
D.
defect in ciliary motility
due to the
absence
of
dynein
arms
E.
hypersensitivity
reaction
associated with
c-ANCA
and granuloma
formation
i
8/10/2019 Nutritional Disorders Review - Part 2 - And Primary Immunodeficiency Disorders
19/20
2013 Nutritional
Disorders
Review
-
Part
2 and
Primary
Immunodeficiency Disorders
Review;
Barbara
D.
Bosch.
M.D. page
19
A
5 year-old
boy
has had
multiple
recurrent
infections,
including Pneumocystis jiroveci
pneumonia,
Streptococcus
pneumoniae
otitis media and
Pseudomonas
aeruginosa
urinary
tract
infections. On
physical
examination,
he
is
now
noted
to
have
pharyngeal
erythema
with
an
exudate. Laboratory
studies show
hemoglobin 9.1 g/dL (nl 13.5-17.5);
platelet
count
130,900/mm3
(nl 150,000-400,000);
and
WBC
count 3440/mm3
(nl
4500-11,000)
with
47
segmented
neutrophils,
3
bands,
40
lymphocytes,
and 10
monocytes.
Serum
immunoglobulin
levels
are
IgG
88
mg/dL
(nl 650-1500);
IgM
721
mg/dL
(nl
40-345);
and
IgA
undetectable
(nl 76-390 mg/dL).
A
peripheral
blood smear
shows
nucleated
RBCs.
Which of
the
following
immunological
defects is most
likely in
this
patient?
A.
a defect
in DNA
repair
enzymes
B.
a defect
in
LFA-1
adhesion
proteins
on
phagocytes
C. abnormal CD40-CD40L interaction
D.
absence
of
adenosine deaminase
E.
deletion
of
chromosome
22q1
1
F.
failure
of interferon-y
production
G.
lack
of
IgA production
by
B
lymphocytes
H.
mutation
in
the
BTKgene
Where
does
immunoglobulin
switching from IgM to
IgG
primarily
occur?
A.
bone
marrow
B.
germinal
centers
C.
peripheral
blood
D.
splenic
red
pulp
E.
thymus
A
24
year-old woman with a
history of
allergic
rhinitis is involved
in
an automobile accident and
sustains
a
splenic
laceration.
She
undergoes
abdominal
surgery
and is then
transfused with
four
units
of blood of
the
appropriate
ABO
and
Rh type.
As the
transfusion
progresses,
she
becomes
rapidly hypotensive
and
develops airway
edema,
consistent with
anaphylaxis.
Which
of the
following pre-existing
conditions best
accounts fo r these symptoms?
A.
C1 esterase
inhibitor
deficiency
B.
common
variable
immunodeficiency
C.
DiGeorge
syndrome
D.
hyper-IgM syndrome
E. selective
IgA
deficiency
F.
Wiskott-Aldrich
syndrome
8/10/2019 Nutritional Disorders Review - Part 2 - And Primary Immunodeficiency Disorders
20/20
2013
Nutritional Disorders
Review
-
Part
2
and
Primary Immunodeficiency
Disorders
Review:
Barbara
D.
Bosch,
M
D. page 20
A
15
year-old boy
is
brought
to the emergency
department because
of
the
acute
onset
of fever,
chills and
a
productive cough.
Samples
taken
of
the
sputum
show
a-hemolytic
gram-positive
diplococci
that show
a
positive quellung
reaction.
The patient
says
that
he has had
similar
infections over the past
year. A
peripheral
blood smear is
done,
and results
show
several
sickle-shaped
RBCs.
Which of
the
following
explains
why
this
patient
is
susceptible
to
this
particular
type of infection?
A.
bone
marrow
infiltration
resulting in neutropenia and compromised immune
function
B.
large
vessel occlusions
in
the
cerebral vasculature
resulting
in neurologic
events
and
aspiration pneumonia
C.
microvascular
infarcts
resulting in pulmonary
failure
D.
microvascular
infarcts
resulting in splenic
dysfunction
E. vaso-occlusion in
the
renal medulla resulting
in
renal
failure
and uremia