Immunology Flashcards
Questions from Blackboard and Meeran's book
Choose the most appropriate answer from the list: X-Linked Agammaglobulinaemia: A. Chromosome 22q11 B. Bruton’s tyrosine kinase (Btk) gene C. CD40 Ligand gene D. MHC Class II E. IL12 gene F. IFN Receptor 1 gene G. WASP gene H. CD3 mutation I. IL-2 receptor
B. Bruton’s tyrosine kinase (Btk) gene
Choose the most appropriate answer from the list: DiGeorge’s Syndrome A. Chromosome 22q11 B. Bruton’s tyrosine kinase (Btk) gene C. CD40 Ligand gene D. MHC Class II E. IL12 gene F. IFN Receptor 1 gene G. WASP gene H. CD3 mutation I. IL-2 receptor
A. Chromosome 22q11
Choose the most appropriate answer from the list: Severe Combined Immunodeficiency A. Chromosome 22q11 B. Bruton’s tyrosine kinase (Btk) gene C. CD40 Ligand gene D. MHC Class II E. IL12 gene F. IFN Receptor 1 gene G. WASP gene H. CD3 mutation I. IL-2 receptor
I. IL-2 receptor
Choose the most appropriate answer from the list: Wiskott-Aldrich Syndrome A. Chromosome 22q11 B. Bruton’s tyrosine kinase (Btk) gene C. CD40 Ligand gene D. MHC Class II E. IL12 gene F. IFN Receptor 1 gene G. WASP gene H. CD3 mutation I. IL-2 receptor
G. WASP gene
Choose the most appropriate answer from the list: Bare lymphocyte syndrome A. Chromosome 22q11 B. Bruton’s tyrosine kinase (Btk) gene C. CD40 Ligand gene D. MHC Class II E. IL12 gene F. IFN Receptor 1 gene G. WASP gene H. CD3 mutation I. IL-2 receptor
D. MHC Class II
This region encodes C2, C4 and factor B A. IFN Receptor 1 gene B. Adenosine Deaminase (ADA) gene C. WASP gene D. IL-2 receptor E. Bruton’s tyrosine kinase (Btk) gene F. Chromosome 22q11 G. CD40 Ligand gene H. MHC Class III I. IL12 gene J. CD3 mutation
H. MHC Class III
A 25 year old woman comes to her GP about family planning. She is worried because she had an older brother who died before she was born and her grandmother lost two children which she things were both boys. Her GO thinks there may be a genetic disorder in her family affecting the IL-2 receptor. If correct she has a 50% of inheriting the trait from her mother and being a carrier herself. And there would be a 50% chance of passing it to her children. If inherited, her daughters would be carriers and her sons would require treatment which is usually a bone marrow transplant but gene therapy is sometimes used.
A. Bruton’s X linked hypogammaglobulinaemia
B. Common variable immune deficiency
C. Hyper IgM syndrome
D. TAP deficiency
E. Bare lymphocyte syndrome
F. Severe combined immunodeficiency (SCID)
G. Selective IgA deficency
H. DiGeorge syndrome
I. Reticular dysgenesis
F. Severe combined immunodeficiency (SCID)
A jaundiced 8 month old child presents with failure to thrive, and a history of recurrent infections (viral, bacterial and fungal). On examination there is hepatomegally and blood tests show a raised alk phos and low CD4 count. A defect is found in the proteins that regulate MHC Class II transcription.
A. Bruton’s X linked hypogammaglobulinaemia
B. Common variable immune deficiency
C. Hyper IgM syndrome
D. TAP deficiency
E. Bare lymphocyte syndrome
F. Severe combined immunodeficiency (SCID)
G. Selective IgA deficency
H. DiGeorge syndrome
I. Reticular dysgenesis
E. Bare lymphocyte syndrome
Patient X’s GP writes inquiring about whether to vaccinate. The patient suffers from recurrent respiratory tract infections and has been diagnosed with one of the B-cell maturation defects. For which one is immunisation still effective?
A. Bruton’s X linked hypogammaglobulinaemia
B. Common variable immune deficiency
C. Hyper IgM syndrome
D. TAP deficiency
E. Bare lymphocyte syndrome
F. Severe combined immunodeficiency (SCID)
G. Selective IgA deficency
H. DiGeorge syndrome
I. Reticular dysgenesis
G. Selective IgA deficency
For which disorder would a bone marrow transplant be unhelpful but a thymic transplant may provide a cure?
A. Bruton’s X linked hypogammaglobulinaemia
B. Common variable immune deficiency
C. Hyper IgM syndrome
D. TAP deficiency
E. Bare lymphocyte syndrome
F. Severe combined immunodeficiency (SCID)
G. Selective IgA deficency
H. DiGeorge syndrome
I. Reticular dysgenesis
H. DiGeorge syndrome
A 4-month-old girl is referred to a paediatrician with failure to thrive, after suffering from recurrent infections since birth, especially recurrent candida infections of her skin and mouth. Blood tests reveal a diminished T-cell count; further lymphocyte testing demonstrates non-functional B cells. A Kostmann syndrome B Severe combined immunodeficiency C Hyper IgM syndrome D Leukocyte adhesion deficiency E Protein-losing enteropathy F Cyclic neutropenia G Bruton’s agammaglobulinaemia H Di George’s syndrome I AIDS
B Severe combined immunodeficiency
A 5-month-old boy is referred to a paediatrician after suffering with recurrent infections since his birth. His mother has noticed increased irritability. Blood tests reveal a neutrophil count of 350/μL. NBT test is normal. A Kostmann syndrome B Severe combined immunodefi- ciency C Hyper IgM syndrome D Leukocyte adhesion deficiency E Protein-losing enteropathy F Cyclic neutropenia G Bruton’s agammaglobulinaemia H Di George’s syndrome I AIDS
A Kostmann syndrome
A 4-year-old girl is referred to a paediatrician after experiencing recurrent chest infections. Blood tests demonstrate a reduced B-cell count as well as low IgA, IgM and IgG levels. A Kostmann syndrome B Severe combined immunodefi- ciency C Hyper IgM syndrome D Leukocyte adhesion deficiency E Protein-losing enteropathy F Cyclic neutropenia G Bruton’s agammaglobulinaemia H Di George’s syndrome I AIDS
G Bruton’s agammaglobulinaemia
A 48-year-old woman presents to her GP with a history of diarrhoea for 3 weeks, which occasionally contains blood. She has felt increasingly tired and feverish. The patient has had similar episodes in the past which were treated with mesalazine. She also reports recurrent chest infections since her first epi- sode of diarrhoea. A Kostmann syndrome B Severe combined immunodefi- ciency C Hyper IgM syndrome D Leukocyte adhesion deficiency E Protein-losing enteropathy F Cyclic neutropenia G Bruton’s agammaglobulinaemia H Di George’s syndrome I AIDS
E Protein-losing enteropathy
A 3-year-old girl is seen by a GP due to recurrent mild chest infections. The doctor notices the girl has a cleft lip. Blood tests reveal a reduced T-cell count as well as hypocalcaemia. A Kostmann syndrome B Severe combined immunodefi- ciency C Hyper IgM syndrome D Leukocyte adhesion deficiency E Protein-losing enteropathy F Cyclic neutropenia G Bruton’s agammaglobulinaemia H Di George’s syndrome I AIDS
H. Di George’s syndrome
A 4-year-old boy is referred to a paediatrician after suffering recurrent chest infections over the preceding few months. The boy has a history of eczema as well as recurrent nose bleeds. Blood tests reveal a reduced IgM level but raised IgA and IgE levels. A Selective IgA deficiency disease B Common variable immuno- deficiency C Nephrotic syndrome D Bare lymphocyte syndrome deficiency E Sickle cell anaemia F Chronic granulomatous G Reticular dysgenesis H Wiskott–Aldrich syndrome I Interferon-gamma receptor
H Wiskott–Aldrich syndrome
A 20-year-old man presents to his GP with signs of a mild pneumonia. The patient states he has had several similar episodes in the past. Further investigations by an immunologist reveal the patient has a genetic condition caused by a mutation of MHC III. A Selective IgA deficiency disease B Common variable immuno- deficiency C Nephrotic syndrome D Bare lymphocyte syndrome deficiency E Sickle cell anaemia F Chronic granulomatous G Reticular dysgenesis H Wiskott–Aldrich syndrome I Interferon-gamma receptor
B Common variable immuno-
deficiency
A 3-year-old girl is referred to a paediatrician after concerns about recurrent skin infections she has suffered from since birth. A nitro-blue-tetrazolium test is negative (remains colourless). A Selective IgA deficiency disease B Common variable immuno- deficiency C Nephrotic syndrome D Bare lymphocyte syndrome deficiency E Sickle cell anaemia F Chronic granulomatous G Reticular dysgenesis H Wiskott–Aldrich syndrome I Interferon-gamma receptor
F Chronic granulomatous
A 4-year-old boy is referred to a paediatrician after a period of mild but chronic diarrhoea. On examination the child is found to have icteric sclera and hepatomegaly. Following blood tests, the doctor has a high suspicion that the child could have a defect in MHC I. A Selective IgA deficiency disease B Common variable immuno- deficiency C Nephrotic syndrome D Bare lymphocyte syndrome deficiency E Sickle cell anaemia F Chronic granulomatous G Reticular dysgenesis H Wiskott–Aldrich syndrome I Interferon-gamma receptor
D Bare lymphocyte syndrome
deficiency
A 22-year-old woman visits her GP after several chest infections in the past few years. As well as the chest infections, the patient reports that she has had several bouts of diarrhoea over the same time period. A Selective IgA deficiency disease B Common variable immuno- deficiency C Nephrotic syndrome D Bare lymphocyte syndrome deficiency E Sickle cell anaemia F Chronic granulomatous G Reticular dysgenesis H Wiskott–Aldrich syndrome I Interferon-gamma receptor
A Selective IgA deficiency disease
A 2-year-old girl is seen by an infectious disease paediatrician after suffering recurrent infections since she was born. Her neutrophil count is normal. A nitro- blue-tetrazolium (NBT) test is performed, which remains colourless. What is the diagnosis? A Kostmann syndrome B Cyclic neutropenia C Leukocyte adhesion deficiency D Chronic granulomatous disease E Von Gierke’s disease
D Chronic granulomatous disease
A 29-year-old woman presents to her GP with recent onset joint pain and tiredness. On examination she has a malar rash. Further blood tests reveal she is anti- nuclear antibody and anti-double stranded DNA positive. Which component of the complement system is she most likely to be deficient in? A C3 B C4 C C6 D C9 E C1 inhibitor
B C4
A 4-year-old girl is seen by a paediatrician to investigate possible developmental delay and learning difficulties. Initial blood tests reveal hypocalcaemia, reduced CD4+ and CD8+ T-cell counts as well as deficiency in IgG and IgA. FISH analysis reveals the child has a deletion of 22q11. What is the diagnosis? A Di George’s syndrome B Severe combined immunodeficiency C Bare lymphocyte syndrome D Wiskott–Aldrich syndrome E Interferon-gamma receptor deficiency
A Di George’s syndrome
A 24-year-old man with a history of coeliac disease visits his GP after several bouts of chest and gastrointestinal infections in the past few years. Although the infections are mild, the patient is worried about the cause. What is the diagnosis? A Severe combined immunodeficiency B Bruton’s agammaglobulinaemia C Hyper IgM syndrome D Selective IgA deficiency E Common variable immunodeficiency
D Selective IgA deficiency