Term
| Child has recurrent infections with H. flu and S. pneumo (general deficiency) |
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Definition
| Primary B-cell deficiency |
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Term
| Male infant has recurrent infections with H. flu, S. pneumo, and enteroviruses around 2 months of age. |
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Definition
| X-linked (Bruton's) agammablobulinemia |
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Term
| Male/female infant has less severe infections with encapsulated organisms, higher incidence of lymphom and autoimmune disease |
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Definition
| Common variable immunodeficiency |
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Term
| Child has history of mild recurrent resp, GI, and UTIs but responds to viruses normally. |
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Definition
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Term
| What diagnostic evaluation tool do you use for disorders of humoral immunity? |
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Definition
| Quantitative measurement of total and fractionated serum immunogloblulin levels |
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Term
| Patient has congenital heart disease, hypocalcemia, malformed ears and face, and have a recurrent infections with fungi and Pneumocystis carinii. (Disease, diagnostic evaluation, treatment) |
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Definition
| DiGeorge syndrome. Lab values include normal or decreased absolute lymphocyte, T-cell function, mitogen stimulation, and itnradermal delayed hypersensitivity testing is absent or compromised. No thymic shadow. Tx is thymic and bone marrow transplant. |
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Term
| Child is susceptible to encapsulated organisms, fungal and PCP, small dilated vessels on conjunctive and skin, non-Hodgkins lymphoma, gastric carcinoma |
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Definition
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Term
| Patient is susceptible to H. flu and S. pneumo, atopic dermatitis, thrombocytopenia (bleeding) |
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Definition
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Term
| Multiple infections in the first months of life, "bubble boy/girl", curative with bone marrow txplant |
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Definition
| Severe combined immunodeficiency disease |
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Term
| Patient has recurrent abscesses in LN, liver, spleen, lungs, skin, GI tract. Chronic diarrhea, persistent candidiasis, FTT, increased risk for opportunistic infections and disseminated viral disease. |
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Definition
| Chronic Granulomatous Disease. WBC ranges between 10-20,000 with 60-80% PMNs. Inability for affected cells to reduce nitroblue tetrazolium to formazan. Mgmt: PPX with TMP-SMX, gamma interferon therapy reduces infection. |
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Term
| Child has increased suceptibility to bacterial infections and increased rheum disease. N. meningitidis infections. |
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Definition
| Disorder of Complement Immunity |
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Term
| On physical exam, patient has dark circles under the eyes 2/2 venous congestion and a horizontal creased across the middle of the nose. What is the dx? |
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Definition
| Allergic rhinitis (allergic shiners and allergic salute). Type 1 hypersensitivity where allergen ginds to IgE on mast cells. Nasal topical steroids are the most effective therapy to date. |
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Term
| Pruritic, erythematous, weeping papulovesicular reaction that progresses to sealing, hypertrophy, and lichenification (on extensor surfaces of arms and legs, wrists, face, scalp). Diaper area is spared. |
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Definition
| Atopic dermatitis. DDX includes contact dermatitis, psoriasis or chronic nonallergic skin disorder. Tx with avoiding hot water, strong soaps, lotions, avoiding tight clothing and heat. Use topical corticosteroids. |
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Term
| What is the pathogenesis of juvenile rheumatoid arthritis? |
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Definition
| Chronic synovitis accompanied by villous hypertrophy, hyperplasia of synovial lining layer, edema, hyperemia, vascular endothelial hyperplasia, and infiltration of lymphocytes and plasma cells. |
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Term
| <16 yo comes with swelling or effusion, limitation of ROM, tenderness or pain, increased heat for > 6 weeks with exclusion of other forms of juvenile arthritis. |
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Definition
| Juvenile rheumatoid arthiritis. DDx includes septic arthritis, toxic synovitis, Lyme disease, and reactive arthritis. Tx with anti-inflammatory drugs and PT |
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Term
| What lab values are associated with JRA? |
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Definition
| Anemia and leukocytosis are common. ESR may be elevated. RF and ANA may not be present. Synovial fluid revels WBC 10-20,000 and high protein with decreased glucose and complement levels. |
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Term
| Patient has a history of fever, malaise, weight loss, arthritis with pain out of proportion. Patient also has a discoid rash, photosensitivty, oral or nasal mucocutaneous ulcerations, proteinuria, cellular casts. |
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Definition
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Term
| What lab studies (antibodies, other unique markers) are associated with SLE? |
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Definition
| nDNA, ANA antibody, dsDNA antibodies, Sm nuclear antigen, biologic false test for syphilis, anemia, leukopenia, thrombocytopenia. Decreased C3, C4, CH50 |
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Term
| What is the most common clinical manifestation for SLE, resulting in significant morbidity? |
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Definition
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Term
| Patient has a history of malaise, fatigue, weight loss, and intermittent fevers. Progressive muscle weakness of pelvic and shoulder girdle muscles with violaceous dermatitis of eyelids, hands, elbows, knees and ankles. May lead to calcium deposits in skin, striation, scarring and significant mucle atrophy. |
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Definition
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Term
| How do you diagnosis dermatomyositis and what is the treatment? |
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Definition
| Elevated serum creatinine kinase, EMG and histology. ESR and CRP correlate with disease severity. Treatment consists of rest, PT, and immunosuppressants. The weakness may progress to involve the respiratory and oropharyngeal muscles. |
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Term
| Waxing and waning systemic complaints, painful erythematous skin nodules, purpura, hypertension, hematuria, abdominal pain, encephalopathy, and neuropathy. Fingers and toes may become gangrenous. ESR is elevated with vascular lesions on biopsy. What is the dx and treatment? |
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Definition
| Polyarteritis nodosa. Treat with corticosteroids and immune suppressants. Renal and cardiac complications. |
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Term
| Young child who had a viral or group A strep URI with abdominal pain, vomiting, ileus, upper and lower tract bleeding. Nonthrombocytopenic purpuric or maculopapular rash over buttocks and lower extremities. |
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Definition
| Henoch-Schonlein Purpura. Supportive care. |
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Term
| Fever for >5 days, conjunctivitis, changes in lips/oral cavity, erythema of palms and soles, edema of hands and feet, membranous desquamation, polymorphous rash, acute nonpurulent swelling of cervical lymph nodes. Dx and tx? |
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Definition
| Kawasaki Disease. Corticosteroids are CONTRAINDICATED. Treat with aspirin (antiplatelet) and IVIG. |
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Term
| What are the most serious complications of Kawasaki Disease? |
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Definition
| Cardiac: coronary vasculitis, aneurysm formation. May lead to arrhythimias, infarction or CHF. |
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