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, 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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