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22 Cards in this Set
- Front
- Back
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Pt has recurrent pyogenic infections, partial albinism, and peripheral neuropathy.
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Chediak-Higashi synrome
MT polymerization defect resulting in decreased phagocytosis |
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Pt has inc. retic count, inc. MCHC, hemolytic anemia. RBC's on peripheral smear are microcytic and lack central pallor.
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Hereditary spherocytosis
defect in cytoskeleton (spectrin, ankyrin, band 3.1) |
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Pt. treated for malaria w/ primaquine develops hemolytic anemia. Most likely dx?
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G6PD deficiency (XR)
heinz bodies, bite cells |
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Pt. has fever, hepatosplenomegaly, pharyngitis, and posterior cervical lymphadenopathy.
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Mononucleosis (EBV)
Infects B-cells; also see atypical lymphocytes (t-cell) Increased risk for hodgkin's and burkitt's |
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9 mo old male presents with recurrent bacterial infections. Labs reveal decreased number of B cells and all classes of Ig's.
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Bruton's agammaglobulinemia
XR; defect in tyrosine kinase gene (BTK) |
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Neonate has hypocalcemia, fungal infection, and congenital heart defect.
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DiGeorge syndrome
22q11 deletion failure of 3rd/4th pharyngeal pouces |
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1 yo male pt. presents w/ recurrent severe pyogenic infections. Titers reveal high IgM and other classes low.
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Hyper-IgM syndrome (B cells)
Defect in CD40L on CD4 cells |
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2 yo male pt. presents with recurrent pyogenic infections, thrombocytopenia, purpura, and eczema.
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Wiskott-Aldrich syndrome
XR; inc. IgA/IgE w/ dec. IgM |
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Pt. has coarse facies, noninflamed staph abscesses, retained baby teeth, increased IgE, & eczema
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Job's syndrome (hyper Ige)
Th cells can't produce IFN-y, so Neuts don't respond |
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Pt. is neonate w/ recurrent bacterial infections, absent pus formation, neutrophilia, and delayed detachment of umbilical cord.
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Leukocyte adhesion deficiency syndrome
Defect in LFA-1 integrin proteins on phagocytes |
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Pt. has history of recurrent infections of Staph aureus, e. coli, aspergillus. Confirmed diagnosis w/ negative nitroblue tetrazolium dye reduction test.
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Chronic Granulomatous disease
No NADPH oxidase |
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Pt. has recurrent infections of candida albicans. first thought?
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Chronic mucocutaneous candidiasis
Dysfunction of t-cells |
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Pt. has analphylaxis upon exposure to blood products containing IgA. Also has hx of sinus and lung infections, milk allergies and diarrhea.
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IgA selective deficiency
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Pt. has recurrent bacterial infections. They also have ataxia and spider angiomas.
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Ataxia-telangiectasia
Defect in DNA repair enzyomes w/ associated IgA deficiency |
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25 yo pt presents w/ recurrent bacterial infections. Titers of Ig's reveal low IgG, IgA & normal IgM.
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Common variable immunodeficiency
Increased risk of autoimmune disease & lymphoma |
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Pt. presents w/ chronic sinusitis and a perforate nasal septum. Recently SOB. Labs show positive c-ANCA.
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Wegener's granulomatosis
Look at lungs, kidneys, vasculitis |
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Biopsy of blood vessel reveals granulomatous vasculitis w/ marked eosinophilia
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churg-Strauss syndrome
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Pt. has fever, weight loss, abdominal pain, HTN. Seropositive for Hepatitis B.
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Polyarteritis Nodosa
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Little timmy has regional lymphadenopathy and a papule where is cat scratched him a few days ago. What bug does he got?
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Bartonella henselae
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Pt. had heavy exposure to benzene earlier in life. What leukemia is he at risk for?
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AML
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Radiation increases risk for all leukemias except which one?
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CLLq
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t(15;17) is pathognomonic for what type of AML?
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M3
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