Practice questions primary immunodeficiency disorders
Practice questions
Primary immunodeficiency disorders
© Jun Wang, MD, PhD
1. Use this case for next four questions. A
nine-month-old boy presents with recurrent oral ulcers, thrush, fever and
failure to thrive since 5 months. He had been hospitalized for pneumonia three
times. He has two cousins from the maternal side died before age 1, with
unknown diagnosis. Physical examination reveal general pallor. Oral cavity
examination reveal a few whitish plaques. No tonsil is seen. Laboratory test
results include: hemoglobin 9 mg/dL (normal 10.3–12.4 mg/dL), white count 17 x
109/L (normal 4.5-11 x 109/ml) and absolute lymphocytes
0.2 x 109/L (normal 1.4-22 x 109/L). Peripheral blood
smear reveals no significant morphological abnormalities. His platelet, renal
and liver function tests are within normal range. HIV ELISA is negative. What
additional tests should be performed?
A. Blood culture
B. Chest CT and MRI
C. Lymphocyte
phenotyping and serum immunoglobulin profile
D. Monospot test
E. Oral plaque
biopsy
2. A nine-month-old
boy presents with recurrent oral ulcers, thrush, fever and failure to thrive
since 5 months. He had been hospitalized for pneumonia three times. He has two
cousins from the maternal side died before age 1, with unknown diagnosis.
Physical examination reveal general pallor. Oral cavity examination reveal a
few whitish plaques. No tonsil is seen. Laboratory test results include:
hemoglobin 9 mg/dL (normal 10.3–12.4 mg/dL), white count 17 x 109/L
(normal 4.5-11 x 109/ml) and absolute lymphocytes 0.2 x 109/L
(normal 1.4-22 x 109/L). Peripheral blood smear reveals no
significant morphological abnormalities. His platelet, renal and liver function
tests are within normal range. HIV ELISA is negative.
Flow cytometry
studies reveal a markedly reduced number of circulating CD3 positive cells. The
number of CD19 positive cells are slightly reduced. What is the most likely
finding of serum immunoglobulin levels?
A. Elevated IgG,
normal IgM and IgA
B. Elevated IgM, reduced
IgG and IgA
C. Elevated monoclonal
IgG, normal IgA and IgM
D. Normal IgG and
IgM, reduced IgA
E. Reduced IgG, IgA and IgM
3. A nine-month-old
boy presents with recurrent oral ulcers, thrush, fever and failure to thrive
since 5 months. He had been hospitalized for pneumonia three times. He has two
cousins from the maternal side died before age 1, with unknown diagnosis.
Physical examination reveal general pallor. Oral cavity examination reveal a
few whitish plaques. No tonsil is seen. Laboratory test results include:
hemoglobin 9 mg/dL (normal 10.3–12.4 mg/dL), white count 17 x 109/L
(normal 4.5-11 x 109/ml) and absolute lymphocytes 0.2 x 109/L
(normal 1.4-22 x 109/L). Peripheral blood smear reveals no
significant morphological abnormalities. His platelet, renal and liver function
tests are within normal range. HIV ELISA is negative.
Flow cytometry
studies reveal a markedly reduced number of circulating CD3 positive cells. The
number of CD19 positive cells are slightly reduced. His serum immunoglobulin
levels are markedly reduced. What additional abnormality is the most likely to
be found?
A. Deletion of 22q11.2
B. Mutation of Bruton
tyrosine kinase
C. Mutation of CD40L
D. Mutation of common
gamma chain of interleukin receptor
E. Mutation of
SH2D1A
4. A nine-month-old
boy presents with recurrent oral ulcers, thrush, fever and failure to thrive
since 5 months. He had been hospitalized for pneumonia three times. He has two
cousins from the maternal side died before age 1, with unknown diagnosis.
Physical examination reveal general pallor. Oral cavity examination reveal a
few whitish plaques. No tonsil is seen. Laboratory test results include:
hemoglobin 9 mg/dL (normal 10.3–12.4 mg/dL), white count 17 x 109/L
(normal 4.5-11 x 109/ml) and absolute lymphocytes 0.2 x 109/L
(normal 1.4-22 x 109/L). Peripheral blood smear reveals no
significant morphological abnormalities. His platelet, renal and liver function
tests are within normal range. HIV ELISA is negative.
Flow cytometry
studies reveal a markedly reduced number of circulating CD3 positive cells. The
number of CD19 positive cells are slightly reduced. His serum immunoglobulin
levels are markedly reduced. What is most likely the diagnosis?
A. Common variable
immunodeficiency
B. DiGeorge syndrome
C. Hyper IgM
syndrome
D. Severe combined
immunodeficiency
E. X-linked
agammaglobulinemia
5. Use this case for next two questions. A
1-year-old boy presents with cough, fever and rapid breathing for one day. He
has a history of recurrent otitis media and upper respiratory tract infection
since 5-month-old. His immunization record is up to date. He has two healthy
older sisters. Physical examination reveal a pale, thin boy with height and
weight below 5th percentile. No other significant abnormality is
seen. Radiological examination reveals right lung infiltrate. Laboratory
results include: hemoglobulin 8 g/dL (normal 10.3–12.4 g/dL); white blood cells
3.42 x 109/L (normal 6-17 x 109/L), neutrophils 88% and
lymphocytes 12%; platelets, 357 × 109/L (normal 150-450 x 109/L). Blood
culture reveals Hemophilus influenza. Additional test reveal serum IgG 0.25 g/L
(normal 5.5-10.0 g/L), IgM 0.07 g/L (normal 0.4-1.8 g/L). Serum IgA is
undetectable. Flow cytometry studies reveal CD3 positive lymphocyte at 3.2 x 109/L
(normal 1.5-3.0 x 109/L); CD19 positive lymphocyte <0.1 x 109/L
(normal 0.3-1.0 x 109/L). What is the most likely diagnosis?
A. Common variable
immunodeficiency
B. Isolated IgA
deficiency
C. Severe combined
immunodeficiency
D. Transient
hypogammaglobulinemia of infancy
E. X-linked
agammaglobulinemia
6. A 1-year-old boy
presents with cough, fever and rapid breathing for one day. He has a history of
recurrent otitis media and upper respiratory tract infection since 5-month-old.
His immunization record is up to date. He has two healthy older sisters.
Physical examination reveal a pale, thin boy with height and weight below 5th
percentile. No other significant abnormality is seen. Radiological examination
reveals right lung infiltrate. Laboratory results include: hemoglobulin 8 g/dL
(normal 10.3–12.4 g/dL); white
blood cells 3.42 x 109/L
(normal 6-17 x 109/L), neutrophils 88% and lymphocytes 12%;
platelets, 357 × 109/L (normal 150-450 x 109/L). Blood
culture reveals Hemophilus influenza. Additional test reveal serum IgG 0.25 g/L
(normal 5.5-10.0 g/L), IgM 0.07 g/L (normal 0.4-1.8 g/L). Serum IgA is
undetectable. Flow cytometry studies reveal CD3 positive lymphocyte at 3.2 x 109/L
(normal 1.5-3.0 x 109/L); CD19 positive lymphocyte <0.1 x 109/L
(normal 0.3-1.0 x 109/L). Abnormality of what gene is the most
causing his presentations?
A. Adenosine
deaminase
B. Bruton’s tyrosine
kinase
C. CD40 ligand
D. Common gamma
chain of interleukin receptors
E. LYST/CHS
7. A 2-year-old girl presents with recurrent upper respiratory infections and otitis media. Her immunization is up to date. Physical examination reveals normal development. Eczematous changes are seen in her arms. Laboratory tests include CBC, liver and renal functions are within normal range. Additional tests reveal serum IgG 255 mg/dL (normal 420-1050 mg/dL), IgM 17 mg/dL (normal 48-168 mg/dL), and serum IgA 25 mg/dL (normal 14-123 mg/dL). Specific IgGs for her previous vaccination are within normal range. What is most likely the diagnosis?
A. Common variable
immunodeficiency
B. Isolated IgA
deficiency
C. Severe combined
immunodeficiency
D. Transient
hypogammaglobulinemia of infancy
E. X-linked
agammaglobulinemia
8. Use this case for next five questions. A 5-year-old boy presents with generalized seizure for one day. He has a history of recurrent oral thrush. His developmental milestones are delayed. Physical examinations reveal a coarse face, with small chin. Heart murmurs are noted. Laboratory tests reveal serum calcium at 6.5 mg/dL (normal 8.5-10.5 mg/dL). His CBC, blood cell morphology and urinary analysis are within normal range. Flow cytometry studies reveal CD3 positive lymphocyte at 0.9 x 109/L (normal 1.5-3.0 x 109/L); CD19 positive lymphocyte 0.15 x 109/L (normal 0.3-1.0 x 109/L). What is most likely chest radiologic findings besides heart abnormality?
A. Absence of thymus
B. Enlarged thymus
C. Mediastinum
lymphadenopathy
D. Pulmonary
hypoplasia
E. Smaller than
normal thymus
9. A 5-year-old boy
presents with generalized seizure for one day. He has a history of recurrent
oral thrush. His developmental milestones are delayed. Physical examinations
reveal a coarse face, with small chin. Heart murmurs are noted. Laboratory
tests reveal serum calcium at 6.5 mg/dL (normal 8.5-10.5 mg/dL). His CBC, blood
cell morphology and urinary analysis are within normal range. Flow cytometry
studies reveal CD3 positive lymphocyte at 0.9 x 109/L (normal
1.5-3.0 x 109/L); CD19 positive lymphocyte 0.15 x 109/L
(normal 0.3-1.0 x 109/L). What is most likely causing his
generalized seizure?
A. Congenital
central nervous system defect
B. Malnutrition
C. Severe GI tract
infection
D. Thyroid C cell
hyperplasia
E. Underdeveloped
parathyroid gland
10. A 5-year-old boy
presents with generalized seizure for one day. He has a history of recurrent
oral thrush. His developmental milestones are delayed. Physical examinations
reveal a coarse face, with small chin. Heart murmurs are noted. Laboratory
tests reveal serum calcium at 6.5 mg/dL (normal 8.5-10.5 mg/dL). His CBC, blood
cell morphology and urinary analysis are within normal range. Flow cytometry
studies reveal CD3 positive lymphocyte at 0.9 x 109/L (normal 1.5-3.0
x 109/L); CD19 positive lymphocyte 0.15 x 109/L (normal
0.3-1.0 x 109/L). What is most likely the diagnosis?
A. Common variable
immunodeficiency
B. DiGeorge syndrome,
partial
C. Isolated IgA
deficiency
D. Severe combined
immunodeficiency
E. X-linked
agammaglobulinemia
11. A 5-year-old boy
presents with generalized seizure for one day. He has a history of recurrent
oral thrush. His developmental milestones are delayed. Physical examinations
reveal a coarse face, with small chin. Heart murmurs are noted. Laboratory
tests reveal serum calcium at 6.5 mg/dL (normal 8.5-10.5 mg/dL). His CBC, blood
cell morphology and urinary analysis are within normal range. Flow cytometry
studies reveal CD3 positive lymphocyte at 0.9 x 109/L (normal
1.5-3.0 x 109/L); CD19 positive lymphocyte 0.15 x 109/L
(normal 0.3-1.0 x 109/L). What is the most life threatening
condition of this patient?
A. Autoimmune
disorder
B. Congenital heart
defect
C. Malignant
lymphoma
D. Recurrent
infections
E. Severe anemia
12. A 5-year-old boy
presents with generalized seizure for one day. He has a history of recurrent
oral thrush. His developmental milestones are delayed. Physical examinations
reveal a coarse face, with small chin. Heart murmurs are noted. Laboratory
tests reveal serum calcium at 6.5 mg/dL (normal 8.5-10.5 mg/dL). His CBC, blood
cell morphology and urinary analysis are within normal range. Flow cytometry
studies reveal CD3 positive lymphocyte at 0.9 x 109/L (normal
1.5-3.0 x 109/L); CD19 positive lymphocyte 0.15 x 109/L
(normal 0.3-1.0 x 109/L). What genetic abnormality is most likely
seen in this patient?
A. Deletion of 22q11.2
B. Mutation of Bruton
tyrosine kinase RNA
C. Mutation of CD40L
D. Mutation of LSYT
E. Mutation of
SH2D1A
13. Use this case for next two questions. A 3-year-old boy presents with fever and productive cough for 2 days. He has had recurrent sinopulmonary infection and diarrhea since 8 months old. He has two maternal side male cousins died before age 1. His elder sister is healthy. Physical examination reveals his weight and height are around 3rd percentile. Radiologic examination reveal bilateral lung infiltrate. His sputum and blood culture reveal Streptococcus pneumonia. Laboratory tests reveal absolute neutrophil count at 0.4 x 109/L (normal 1.5 - 8.5 x 109/L). Additional tests reveal IgA at 7.01 mg/dL (normal 20-100 mg/dL), IgG 35 mg/dL (normal 453-916 mg/dL), IgM 350 mg/dL (normal 19-146 mg/dL). Other tests are within normal range. What is the most likely diagnosis?
A. Common variable
immunodeficiency
B. Hyper IgM
syndrome
C. Isolated IgA
deficiency
D. Severe combined
immunodeficiency
E. X-linked
agammaglobulinemia
14. A 3-year-old boy
presents with fever and productive cough for 2 days. He has had recurrent
sinopulmonary infection and diarrhea since 8 months old. He has two maternal
side male cousins died before age 1. His elder sister is healthy. Physical
examination reveals his weight and height are around 3rd percentile. Radiologic
examination reveal bilateral lung infiltrate. His sputum and blood culture
reveal Streptococcus pneumonia. Laboratory tests reveal absolute neutrophil
count at 0.4 x 109/L (normal 1.5 - 8.5 x 109/L).
Additional tests reveal IgA at 7.01 mg/dL (normal 20-100 mg/dL), IgG 35 mg/dL
(normal 453-916 mg/dL), IgM 266 mg/dL (normal 19-146 mg/dL). Other tests are within
normal range. Abnormality of what gene is most likely associated his
conditions?
A. Adenosine
deaminase
B. Bruton tyrosine
kinase RNA
C. CD40L
D. LSYT
E. SH2D1A
15. Use this case for next two questions. A 45-year-old woman presents with chronic eczema on her forearms for 10 years. She has a history of recurrent sinusitis, lactose intolerance, and intermittent diarrhea for 25 year. Physical examination reveal slight thickening of the forearms. Laboratory tests results include IgG 1370 mg/dL (normal 650-1600 mg/dL), IgM 155 mg/dL (normal 50-300 mg/dL), IgA 1.5 mg/dL (normal 20-100 mg/dL), IgE 60 mg/dL (normal 0-100 mg/dL). Other tests are within normal range. What is the most likely diagnosis?
A. Common variable
immunodeficiency
B. Dermatophytosis
C. Isolated IgA
deficiency
D. Severe combined
immunodeficiency
E. X-linked
agammaglobulinemia
16. A 45-year-old woman
presents with chronic eczema on her forearms for 10 years. She has a history of
recurrent sinusitis, lactose intolerance, and intermittent diarrhea for 25 year.
Physical examination reveal slight thickening of the forearms. Laboratory tests
results include IgG 1370 mg/dL (normal 650-1600 mg/dL), IgM 155 mg/dL (normal 50-300
mg/dL), IgA 1.5 mg/dL (normal 20-100 mg/dL) , IgE 60 mg/dL (normal 0-100 mg/dL). Other tests are
within normal range. What would most likely happen if she receive blood
transfusion?
A. Anaphylactic
reaction
B. Blood borne
infection
C. Hemolytic
reaction
D. Hyperkalemia
E. Transfusion
related acute lung injury
17. A 37-year-old woman presents with fever and productive cough for a day. She has a history of isolated IgA deficiency diagnosed at age 17. Physical examination reveals bibasilar rhonchi. Laboratory test reveals white cell count 16.7 x 109/L (normal 0.45-1.1 x 109/L) with left shift. Her red blood cells and platelets are unremarkable. Additional studies reveal IgG at 160 mg/L (normal 700-1600 mg/L), IgM 5 mg/L (normal 40-230 mg/L) and undetectable IgA. What is the most likely diagnosis?
A. Common variable
immunodeficiency
B. DiGeorge syndrome
C. Isolated IgA
deficiency
D. Severe combined
immunodeficiency
E. X-linked
agammaglobulinemia
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These are great! Good content.
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