Immunologic Disorders 2018-2020 Flashcards
1
Q
1. Mutations in which gene are found in the greatest percentage of patients with systemic mastocytosis? A. ASXL1 B. CBL C. c-KIT D. DNMT3A
A
Chapter 25 Answers:
1. C, c-KIT.
Although mutations in all of the genes listed above have been reported in patient with systemic mastocytosis, c-KIT mutations are by far the most common, specifically the D816V mutation.
Chapter 25: Resolution of Allergic Inflammation
Middleton’s Allergy Principles and Practice, 8th Edition
2
Q
1. In granulomatosis with polyangiitis, which pattern of cytokine production is increased in response to environmental stimuli and contribute to granuloma formation? A. Th1 cytokines B. Th2 cytokines C. Th1 and Th2 cytokines D. Th1 and Th17 cytokines
A
- D, Th1 and TH17 cytokines, p. 1015.
Patients with granulomatosis with polyangiitis have an immune defect that leads to excessive production of Th1/Th17 cytokines (IL-17, TNF, and IFN-γ).
Chapter 62: Immunologic Nonasthmatic Diseases of the Lung
Middleton’s Allergy Principles and Practice, 8th Edition
3
Q
2. Tissue biopsy of an affected organ in which condition would show absence of granuloma formation? A. Churg-Strauss syndrome B. Histoplasmosis C. Hypersensitivity pneumonitis D. Microscopic polyangiitis
A
- D, Microscopic polyangiitis, p. 1019.
Absence of granulomatous inflammation in microscopic polyangiitis helps to differentiate it from other small vessel vasculitides discussed in this chapter.
4
Q
- A 50-year-old White man with vasculitis is diagnosed with mononeuritis multiplex. Which of the following is most likely to be true?
A. He has asthma and a high eosinophil count
B. He has bilateral hilar lymphadenopathy
C. He will likely develop diffuse alveolar hemorrhage
D. He has upper and lower airway involvement as well as glomerulonephritis
A
- A, He has asthma and a high eosinophil count, p. 1020.
Mononeuritis multiplex is the most common extrapulmonary manifestation of ChurgStrauss Syndrome which is characterized by asthma, allergic granulomatosis, and vasculitis. The characteristic laboratory finding in patients with Churg-Strauss Syndrome is
peripheral eosinophilia.
5
Q
- A 45-year-old woman is diagnosed with granulomatosis with polyangiitis. She is found to
have a positive ANCA.
In this condition, the ANCA can be used for what purpose?
A. A positive ANCA is diagnostic for granulomatosis with polyangiitis
B. ANCA titers can be used to determine a relapse in disease
C. ANCA titers can be used to evaluate disease severity
D. ANCA titers do not correlate well with the disease
A
- D, ANCA titers do not correlated well with the disease, p. 1015.
ANCA antibody titers do not correlate well with disease activity, and patients in remission can
continue to have a high ANCA titer.
6
Q
5. Which of the following disorders is associated with an increased genetic predisposition? A. Churg-Strauss syndrome B. Goodpasture’s syndrome C. Microscopic polyangiitis D. Sarcoidosis
A
- D, Sarcoidosis, p. 1021.
There is an increased risk of sarcoidosis among first-degree relatives of patients with sarcoidosis. Siblings have a relative risk of 5.8 of having the disorder.
7
Q
6. A CXR with bilateral hilar lymphadenopathy without parenchymal abnormalities is consistent with which stage of sarcoidosis? A. Stage 0 B. Stage I C. Stage II D. Stage III
A
- B, Stage I, p. 1023.
Stage 0 indicates no visible abnormalities. Stage I indicates bilateral hilar lymphadenopathy without parenchymal abnormalities. Stage II is bilateral hilar lymphadenopathy with pulmonary parenchymal abnormalities. Stage III is parenchymal infiltrates without hilar adenopathy.
8
Q
7. In which of the following conditions is plasmapheresis a first-line therapy? A. Granulomatosis with polyangiitis B. Goodpasture’s syndrome C. Myasthenia gravis D. Serum sickness
A
- C, Goodpasture’s syndrome, p. 1028.
Therapy for Goodpasture’s syndrome consists of prednisone, oral cyclophosphamide, and plasmapheresis daily for 14 days.
9
Q
8. A 45-year-old woman is found to have vasculitis, and her anti-proteinase 3 antibody is positive. Which of the following conditions does she most likely have? A. Churg-Strauss syndrome B. Granulomatosis with polyangiitis C. Microscopic polyangiitis D. Polyarteritis nodosa
A
- B, Granulomatosis with polyangitis, p. 1017.
Antiproteinase-3 ANCA is positive in 75-90% of granulomatosis with polyangiitis patients. It is positive in 10-50% of patients with microscopic polyangiitis and <5% of patients with Churg-Strauss Syndrome.
10
Q
- A 38-year-old African American woman is found to have bilateral hilar lymphadenopathy with parenchymal infiltrates on CXR. She is scheduled to have a bronchoscopy.
What will be true about the patient’s biopsies and bronchoalveolar lavage (BAL)?
A. BAL will show a decreased CD4 to CD8 ratio
B. BAL will show an elevated CD4 to CD8 ratio
C. BAL will show elevated neutrophils
D. Pathology will show caseating granulomas
A
- B, BAL will show an elevated CD4 to CD8 ratio, p. 1022.
This patient has sarcoidosis in which BAL shows increased lymphocytes and macrophages and an increased CD4/CD8 ratio. Pathology will show noncaseating granulomas.
11
Q
- What contributes to development of fibrosis in sarcoidosis?
A. Downregulation of a Th1 response
B. Downregulation of a Th2 response
C. Shift from a Th1 response to a Th2 response
D. Shift from a Th2 response to a Th1 response
A
- A, Downregulation of a TH1 response, Figure 62-4, page 1025.
Release of TGF-β and CCL10 as well as downregulation of the Th1 response leads to fibrosis. In the initial phase of sarcoidosis, there is an increase in Th1 cytokine production and CD4+ T cell activation.
12
Q
1. Mutations in the gene which encodes which chemokine receptor protects human cells from HIV infection? A. CXCR1 B. CCR5 C. CXCR13 D. CCR8
A
- B, CCR5, p. 1176.
HIV requires CD4 and co-receptors to infect target cells. One of these co-receptors is the chemokine receptor CCR5. CCR5 and CXCR4 are the chemokine co-receptors used by most HIV viruses with CCR5 being the co-receptor for macrophage-tropic HIV strains. Mutations in the gene for this chemokine receptor make it more difficult for HIV strains to bind and enter the human cell, and then incorporate HIV RNA into the host genome.
Chapter 73: Human Immunodeficiency Virus and Allergic Disease
Middleton’s Allergy Principles and Practice, 8th Edition
13
Q
1. Which of the following stimulate differentiation, maturation, and activation of eosinophils? A. IL-3, IL-4, IL-13 B. IL-4, IL-5, IL-13 C. GM-CSF, IL-3, IL-4 D. GM-CSF, IL-3, IL-5
A
- D, GM-CSF, IL-3, IL-5, p. 1197.
The three eosinophil growth factor cytokines are granulocyte-macrophage colony stimulating factor (GM-CSF), IL-3, and IL-5.
Chapter 75: Eosinophilia and Eosinophil-Related Disorders
Middleton’s Allergy Principles and Practice, 8th Edition
14
Q
2. A 65-year-old man with a history of intermittent asthma and chronic rhinosinusitis who was vacationing in Brazil has bilateral arm and leg numbness for one day. Physical exam shows wheezing and hyperreflexia of lower extremities. Labs show eosinophil count of 8260/mL. What is the best course of action? A. Echocardiogram, troponin, CBC, CMP B. Imatinib 400 mg C. Prednisone 1 mg/kg D. Prednisone 1 mg/kg and ivermectin
A
- D, Prednisone 1 mg/kg and ivermectin, p. 1211
This is the clinical picture of eosinophilic granulomatosis with polyangiitis (EGPA), now with neurologic involvement. Because the patient is having neurologic involvement, treatment must be started immediately, even before continuing workup. Treatment includes prednisone 1 mg/kg. However, ivermectin should be added to prevent disseminated strongyloidiasis if this cannot be excluded based on exposure history due to the steroids. Imatinib is not effective in EGPA.
15
Q
3. Which diagnosis is most consistent with a clinical picture that includes recurrent sinopulmonary infections, persistent cutaneous viral infections and elevated IgE without a newborn rash and coarse facial features? A. DOCK8 deficiency B. Job’s syndrome C. NADPH oxidase deficiency D. Wiskott-Aldrich syndrome
A
- A, DOCK8 deficiency, p. 1219.
DOCK8 deficiency is a combine immunodeficiency sharing many similarities with autosomal recessive form of Hyper-IgE syndrome. Clinical characteristics include viral skin infections with severe and difficult to treat HPV, HSV, VZV, and molluscum contagiosum. Hepatic involvement is more common in DOCK8 deficiency patients compared to Hyper-IgE syndrome patients.
Newborn rash and characteristic coarse facies are clinical characteristics more commonly seen in hyper-IgE syndromes and are absent in DOCK8 deficiency. Patients can have pneumonias but no pneumatoceles (contrast to Job’s syndrome).
Therapy includes IVIG and HSCT.
