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115 Cards in this Set
- Front
- Back
adenosine deaminase defic causes
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SCID
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describe mech of SCID
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B and T cell defic (bubble boy), ATP>>GTP, causing decreased lymph production
(can be due to Adenosine Deaminase defic) |
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what type of disorder is lesch nyhan
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purine salvage (along with adenosine deaminiase defic/SCID)
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how does lesch nyhan present
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gout, MR, self mutilation
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what enzyme abnormal in lesch nyhan
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HGPRTase causing increased uric acid
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Gly Storage I dz aka
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von Gierke
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Gly Storage II which enzyme is abnormal
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lyso alpha 1,4 glucosidase (called Pompe's)
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Gly Storage III/Cori which enzyme abnormal
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alpha 1,6 glucosidase (debranching)
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Name all glycogen storage dz names and acronym
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von Gierke, Pompe, Cori, McArdle (very poor carb metabolism)
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enzyme defic in mcArdles
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skel mscl gly phophorylase
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alpha ketoacid-dehydrogenase defic in what dz
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maple syrup urine
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alpha ketoacid-dehydrogenase does what
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used in degradation of branched aa
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Name dz and enzyme defic: weak mscl, big heart, bad liver
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Pompe's (Gly II, defic of lyso alpha 1,4 glucosidase
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hypoglycemia, hi glycogen in liver
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von Gierke (Gly I, defic of glu 6 phosphate)
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mechanism of von Gierke
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glu6P enzyme doesn't work so glycogen all stuck in liver
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clinical presentation/signs/symptoms McArdles
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"PCM poor carb metabolism" Painful cramps myoglobinuria with exercise
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clinical presentation/signs/symptoms Hurlers
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severe MR, corneal clouding, skel/gargoylism, HS, respir infxn/obstruction,
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MPS IV clinical presentation
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skel short, pectus carvinatum, atlantoaxial instability (my pt)
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dermatan and heparan sulfate defic causes
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Hurler
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chondroitin6sulfate problem seen in what dz
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MPS IV (Morquio)
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general problem in MPS dz
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lysosomal storage dz in which defic enzymes to breakdown GAGs
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Gly Storage II dz aka
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Pompe
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Gly Storage III/Cori which enzyme abnormal
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alpha 1,6 glucosidase (debranching)
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alpha ketoacid-dehydrogenase defic presents clinically, and its natural history/progression
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maple syrup urine, CNS defect, MR, death
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Hunter clinical presentation, course
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mildler form of Hurler, w/o corneal clouding, presents later w slower progression, but increased aggression
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defic in fabry's
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alpha galactosidaseA
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accumulation in fabry's
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ceramide trihexoside
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clinical presentation fabry's
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peripheral neuro hands/feet, CVS dz, renal F, angiokeratomas (red/purple skin),
can present just w RF |
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defic in Krabbe
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b-galactosidase resulting in accum galactocerebroside
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accumulation in krabbe
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galactocerebroside
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clinical presentation krabbe, histol
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peripheral neuro w spasticity, MR, optic atrophy
histol: globoid cells in degen white matter of brain |
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defic in nieman pick
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sphingomyelinase
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accum in Nieman Pick
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sphingomyelin
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clinical present Nieman Pick--key difft feature
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HS, progressive neurodegen, cherry spot
HS key to difft from Tay Sach |
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prognosis Nieman Pick
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die by 3
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clinical presentation Tay Sach
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progress neurodeg, cherry red spot, lysozymes w onion skin
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lysozymes with onion skin
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Tay Sach
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defic in Tay Sach
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hexosaminidaseA
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accum in Tay Sach
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GM2 ganglioside
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arylsulfatase abnormal in what dz
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Metachrom Leuko Dys
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defic in Metachrom Leuko Dys
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arylsulfataseA
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accum in MLD, and where
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sulfatide (in brain, kidney, liver, peripheral n)
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clinical MLD
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central and peripheral demyelin w ataxia, dementia
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defic in gauchers
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b-glucocerebrosidase
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accum in gauchers
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glucocerebroside
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clinical gaucher
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HS, aseptic necrosis femur, bone crises, gaucher cells
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histol of gaucher cells
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macrophage with crinkled enlarged cytoplasm.
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defic in Hurler
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a-L iduronidase
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defic in Hunter
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iduronate sulfatase
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defic in fruc intolerance
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aldolase B
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defic in esstl fructosemia
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fructokinase
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defic in galactosemia
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gal 1P uridyl trx
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general pathophysio of problem in fruc intolerance
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Fru 1P decreases available phopshate, inhiibiting glycogenolysis and gluconeogenesis
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problem in galactosemia, clinical presentation
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accum of toxins (galacitol) (causing cataracts, HS, MR, +/- jaundice, vomit)
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clinical present of fruc intolerance
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hypogly, jaundice, cirrhosis
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galactokinase defic presents
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galactosemia and uria
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which sugar disorders treatable by diet
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galactosomia, no galactose and no lactose
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problem in G6PD defic
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decr NADPH in RBC to keep glutathione reduced, leads to hemo anemia with oxidative stress
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triggers of hemo anemia in G6PD defic
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fava, sulfonamides, primaquine (latent form malaria), TB Rx
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pathognemonic finding of G6PD (PBS)
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Heinz bodies (ppt of Hb in RBC)
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problem in CGD
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PMN can't phago (no H2O2)
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CGD present
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skin, LN, lung infxn with opp bac, esp Staph, E Coli, Aspergillus--in boys
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LAD clinically presents
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gingiva and skin infection
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problem in LAD
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PMN,
LAD1=no b2 integrins, LFA LAD2=no sialyl lewis x |
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present of Chediak Higashi
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Staph and strep infxns
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problem in Chediak Higashi
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defect phago (microtubules and lysosomes empty)
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problem in PKU
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accum of phenylalanine, Tyr becomes essential
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defici in PKU
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low THF, low phenyl. hydroxylase
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PKU present
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MR, fair skin, exczema, musty odor
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defic in alkaptonuria
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homogentisic acid oxidase (degrades tyr)
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clinical present alkaptonuria
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urine dark on standing, connective tissue dark, ***arthralgia
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tyrosinase defic results in what
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albinism
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problem in albinism
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no tyrosinase, can't make melanin
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homocystinuria defic in
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cytathionine synthase or meth synthase
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clinical present of homocystinuria (besides UA)
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(UA has homocys), MR, osteo, lens dislocate
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defic in cystinuria
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defic tubular aa transporter Cys, Orn, Lys, Arg
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clinical present of cystinuria
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kidney stones (tx acetazolamide which alkalinizes the urine)
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how does sel IgA defic present
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GI, respir infxns, milk allergy, transfusion rxn
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how common is sel IgA and what is it assoc w?
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common, assoc with CVID, autoimmune and allergy
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labs on selIgA, tx?
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labs: only IgA defic
tx: IV Ig |
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clinical presentation CVID
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PNA, bronchitis, sinusitis, GI in 15-35yo
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labs in CVID
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immuniz gives low IgM, no IgG
overall low Ig levels |
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CVID assoc w
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autoimmune, cancer, selIgA
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clinical present Hyper IgM
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pyogenic infxns, young male
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problem in HyperIgM
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problem CD40L so no IgG switch
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labs in HyperIgM
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no IgG, IgA,
IgM very high |
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Bruton's problem?
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arrest in preB cells bc no tyr kinase
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clinical present Brutons
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6mo male, with PNA, sinusitis, otitis
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labs Brutons
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no Ig, no B cells
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Bruton's also called
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X linked gamma globulin
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tx for Brutons
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NO LIVE vaccines
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Wiskott Aldrich clinically present
pathophysio of the problem lab studies |
WIPE Wiskott, Infxns, thrombocytopenic Purpuea, Eczema
can't mount IgM ag encapsulated org hi IgA, normal IgE, low IgM |
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Wiskott Aldrich problem
labs |
no IgM--unable to mount IgM response to encapsulated orgs
labs: hi IgA, normal IgE, low IgM |
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Ataxia telangiectasia clinical present
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ataxia, spider angiomas
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Problem in Ataxia Telangiectasia, labs
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problem: DNA repair in response to xray
labs: low IgA |
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difft Ig defic
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all Ig=Brutons
IgA=sel IgA or atxia telang hyperIgM (no CD40) IgM=Wiskott Aldrich hyperIgE=Job's |
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ceramide formed from
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sphingosine plus fa
(where sphingosine=serine + palmitate) |
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gangliosides made up of
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ceramide + oligosacc + sialic
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cerebrosides made up of
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ceramide + glucose/galactose
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sphingomyelin made up of
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ceramide + phosphoryl Cl
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ceramide is used in...
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gangliosides (add oligosacc and sialic)
cerebrosides (add glu/galactose) sphingomyelin (add phosphoryl chol) |
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Gardners syndrome
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SOD (sebaceous cysts, osteomas, desmoid), + polyps SI and colon
(v FAP polyps in rectum and colon) |
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Peutz Jegher
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polyps (hamartomas) anywhere GI
buccal pigment, increase likely extra-GI malignancy |
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Plummer Vinson
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eso web, Fe defic, dysphagia, spoon nails, atrophic oral, RISK SCC
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Turcot syndrome
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colon polyps and CNS tumor
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von Hippel Lindau
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cystic and Cb hemangioblastomas, angiomalform retina, ??pheo (CCAP)
**50% RCC** |
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difft polyps in difft parts GI
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colon/rectum=FAP
anywhere=Peutz Jegher colon=Turcot SI/colon=Gardners |
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NF1
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cafe au lait
iris hamartomas (Lisch) axillary freckle bone neurofibroma (8% malig) |
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NF2
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bilateral acoustic neuroma
note: 50% new mutation |
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MENI
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Parathyroid, Pancreas, pituitary
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MENIIa
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medullary thyroid (bilat), pheo (bilat), parathyroid hyperplasia
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MENIIb
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medullary thyroid bilat, pheo bilat, muccosal neuromas, marfanoid, constipation (NO PTH)
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Sipples dz aka
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MEN IIa: medullary thyroid (bilat), pheo (bilat), parathyroid hyperplasia
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Osler Rendu Weber
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GI telangiectasia, AV malform
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Waterhouse Friedrichson
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adrenal insuff bc hemorrhage bc meningo
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