Rev25 Flashcards
What deficiency leads to hyperuricemia and Lesch-Nyhan syndrome?
HGPRT deficiency
What is the likely cause of iatrogenic chylothorax following thoracic surgery?
Thoracic duct injury
What embryologic structures are affected in DiGeorge syndrome?
Third and fourth pharyngeal pouches
What are the synovial fluid findings in rheumatoid arthritis?
Decreased Complement (C3)
What is the typical MRI finding in Wernicke encephalopathy?
Atrophy of mammillary bodies
Which monoclonal antibodies can increase the risk of TB reactivation in Crohn’s disease?
Anti-TNF-alpha antibodies (infliximab
What are the key features of antiphospholipid syndrome?
Increased PTT
What is the result of extravasated sperm post-vasectomy?
Granulomatous response forming a sperm granuloma
What is the recurrence risk for congenital heart defects in couples with one affected child?
3-5%
What can increase pulmonary lymphatic flow in experimental models?
Increased pulmonary capillary hydrostatic pressure
What are the key factors in grading breast carcinoma?
Degree of differentiation
What causes normal PT/INR during initial warfarin therapy?
Delayed effect of warfarin
What is the mechanism of primaquine in malaria treatment?
Elimination of hypnozoites to prevent relapse
What organism commonly causes diarrhea in HIV patients?
Cryptosporidium
What compound is reduced in osteoarthritic joints?
Proteoglycans
What neurodegenerative disease is associated with REM sleep behavior disorder?
Parkinson’s disease
How does the thyroid hormone receptor affect transcription in the absence of T3?
Histone deacetylase activity inhibits transcription
How does the thyroid hormone receptor affect transcription in the presence of T3?
Histone acetyltransferase activity activates transcription
What buffers calcium ion concentration in the sarcoplasmic reticulum?
Calsequestrin
What mutation prevents plasmid replication in bacteria?
Origin of replication (ori) mutation
What enzyme deficiency is associated with mucolipidosis II?
Defective mannose phosphorylation in the Golgi apparatus
What is the cause of increased CK-MB and troponin I post-stenting?
Reperfusion injury
What causes pulsus paradoxus in cardiac tamponade?
Exaggerated decrease in systolic blood pressure during inspiration
What increased serum component is indicative of cryoglobulinemia in hepatitis C?
Cryoglobulin
What causes REM sleep behavior disorder?
Absent muscle atonia during REM sleep
What embryologic sites are affected in a right-sided aortic arch and hypocalcemia?
Third and fourth pharyngeal pouches
What histologic pattern is seen in Peutz-Jeghers syndrome polyps?
Hamartomatous polyps
What enzyme activity decreases in osteoarthritic joints?
Proteoglycans
What enzyme deficiency leads to hyperuricemia?
HGPRT deficiency
What is the likely cause of iatrogenic chylothorax?
Thoracic duct injury
Question
Answer
What is the function of Interleukin-1 (IL-1)?
Causes fever, acute inflammation. Activates endothelium to express adhesion molecules. Induces chemokine secretion to recruit WBCs. Also called osteoclast-activating factor.
What is the mnemonic for Interleukin-1 (IL-1)?
Hot T-bone stEAK (IL-1: fever [hot])
What is the function of Interleukin-2 (IL-2)?
Stimulates growth of helper, cytotoxic, and regulatory T cells, and NK cells.
What is the mnemonic for Interleukin-2 (IL-2)?
T-bone stEAK (IL-2: stimulates T cells)
What is the function of Interleukin-3 (IL-3)?
Supports growth and differentiation of bone marrow stem cells. Functions like GM-CSF.
What is the mnemonic for Interleukin-3 (IL-3)?
T-bone stEAK (IL-3: stimulates bone marrow)
What is the function of Interleukin-4 (IL-4)?
Induces differentiation of T cells into Th2 cells. Promotes growth of B cells. Enhances class switching to IgE and IgG.
What is the mnemonic for Interleukin-4 (IL-4)?
Ain’t too proud 2 BEG 4 help (IL-4)
What is the function of Interleukin-5 (IL-5)?
Promotes growth and differentiation of B cells. Enhances class switching to IgA. Stimulates growth and differentiation of eosinophils.
What is the mnemonic for Interleukin-5 (IL-5)?
I have 5 BAEs
What is the function of Interleukin-6 (IL-6)?
Causes fever and stimulates production of acute-phase proteins.
What is the mnemonic for Interleukin-6 (IL-6)?
T-bone stEAK (IL-6: stimulates aKute-phase protein production)
What is the function of Tumor Necrosis Factor-α (TNF-α)?
Activates endothelium. Causes WBC recruitment, vascular leak. Causes cachexia in malignancy. Maintains granulomas in TB. Can mediate fever and sepsis.
What is the function of Interleukin-8 (IL-8)?
Major chemotactic factor for neutrophils.
What is the mnemonic for Interleukin-8 (IL-8)?
Clean up on aisle 8
What is the function of Interleukin-12 (IL-12)?
Induces differentiation of T cells into Th1 cells. Activates NK cells. Facilitates granuloma formation in TB.
What is the function of Interferon-γ (IFN-γ)?
Secreted by NK cells and T cells in response to antigen or IL-12 from macrophages. Stimulates macrophages to kill phagocytosed pathogens. Inhibits differentiation of Th2 cells. Induces IgG isotype switching in B cells. Increases MHC expression and antigen presentation by all cells. Activates macrophages to induce granuloma formation.
What is the function of Interleukin-10 (IL-10)?
Attenuates inflammatory response. Decreases expression of MHC class II and Th1 cytokines. Inhibits activated macrophages and dendritic cells. Also secreted by regulatory T cells.
What is the function of Interleukin-13 (IL-13)?
Promotes IgE production by B cells. Induces alternative macrophage activation.
What is the mnemonic for Interleukin-13 (IL-13)?
Interleukin thirtEEn promotes IgE
What is the defect in X-linked (Bruton) Agammaglobulinemia?
Defect in BTK, a tyrosine kinase gene → no B-cell maturation; X-linked recessive (↑ in Boys)
What is the presentation of X-linked (Bruton) Agammaglobulinemia?
Recurrent bacterial and enteroviral infections after 6 months (↓ maternal IgG)
What are the findings in X-linked (Bruton) Agammaglobulinemia?
Absent B cells in peripheral blood, ↓ Ig of all classes, absent/scanty lymph nodes and tonsils (1° follicles and germinal centers absent)
What is the defect in Selective IgA Deficiency?
Unknown
What is the presentation of Selective IgA Deficiency?
Majority Asymptomatic; can see airway and GI infections, autoimmune disease, atopy, anaphylaxis to IgA in blood products
What are the findings in Selective IgA Deficiency?”
↓ IgA with normal IgG, IgM levels; ↑ susceptibility to giardiasis
What is the defect in Common Variable Immunodeficiency?
Defect in B-cell differentiation. Cause unknown in most cases
What is the presentation of Common Variable Immunodeficiency?
May present in childhood but usually diagnosed after puberty. ↑ risk of autoimmune disease, bronchiectasis, lymphoma, sinopulmonary infections
What are the findings in Common Variable Immunodeficiency?
↓ plasma cells, ↓ immunoglobulins
What is the defect in Thymic Aplasia (DiGeorge Syndrome)?
22q11 microdeletion; failure to develop 3rd and 4th pharyngeal pouches → absent thymus and parathyroids
What is the presentation of Thymic Aplasia (DiGeorge Syndrome)?
CATCH-22: Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, Hypocalcemia
What are the findings in Thymic Aplasia (DiGeorge Syndrome)?
↓ T cells, ↓ PTH, ↓ Ca2+, thymic shadow absent on CXR
What is the defect in IL-12 Receptor Deficiency?
↓ Th1 response; autosomal recessive
What is the presentation of IL-12 Receptor Deficiency?
Disseminated mycobacterial and fungal infections; may present after administration of BCG vaccine
What are the findings in IL-12 Receptor Deficiency?”
↓ IFN-γ
What is the defect in Hyper-IgE Syndrome (Job Syndrome)?
Deficiency of Th17 cells due to STAT3 mutation → impaired recruitment of neutrophils to sites of infection
What is the presentation of Hyper-IgE Syndrome (Job Syndrome)?
Cold staphylococcal abscesses, retained baby teeth, coarse facies, eczema, ↑ IgE, bone fractures from minor trauma
What are the findings in Hyper-IgE Syndrome (Job Syndrome)?”
↑ IgE, ↑ eosinophils
What is the defect in Chronic Mucocutaneous Candidiasis?
T-cell dysfunction; impaired cell-mediated immunity against Candida sp.
What is the presentation of Chronic Mucocutaneous Candidiasis?
Persistent noninvasive Candida albicans infections of skin and mucous membranes
What are the findings in Chronic Mucocutaneous Candidiasis?”
Absent in vitro T-cell proliferation in response to Candida antigens, absent cutaneous reaction to Candida antigens
What is the defect in Severe Combined Immunodeficiency (SCID)?
Several types including defective IL-2R gamma chain (most common, X-linked recessive); adenosine deaminase deficiency (autosomal recessive); RAG mutation → VDJ recombination defect
What is the presentation of Severe Combined Immunodeficiency (SCID)?
Failure to thrive, chronic diarrhea, thrush, recurrent infections
What are the findings in Severe Combined Immunodeficiency (SCID)?”
↓ T-cell receptor excision circles (TRECs), absence of thymic shadow, germinal centers, and T cells
What is the defect in Ataxia-Telangiectasia?
Defects in ATM gene → failure to detect DNA damage → failure to halt cell cycle progression → mutations accumulate; autosomal recessive
What is the presentation of Ataxia-Telangiectasia?
Triad: cerebellar defects (Ataxia), spider Angiomas (telangiectasia), IgA deficiency
What are the findings in Ataxia-Telangiectasia?”
↑ AFP, ↓ IgA, IgG, and IgE, lymphopenia, cerebellar atrophy
What is the defect in Hyper-IgM Syndrome?
Most commonly due to defective CD40L on Th cells → class switching defect; X-linked recessive
What is the presentation of Hyper-IgM Syndrome?
Severe pyogenic infections early in life; opportunistic infection with Pneumocystis, Cryptosporidium, CMV
What are the findings in Hyper-IgM Syndrome?”
Normal or ↑ IgM, ↓ IgG, IgA, IgE, failure to make germinal centers
What is the defect in Wiskott-Aldrich Syndrome?
Mutation in WAS gene; leukocytes and platelets unable to reorganize actin cytoskeleton → defective antigen presentation; X-linked recessive