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75 Cards in this Set

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hereditary angioedema.

ACE inhibitors are contraindicated with this deficiency
C1 esterase inhibitor deficiency
Causes severe, recurrent pyogenic sinus and respiratory tract infections;

increases susceptibility to type III hypersensitivity rxns
C3 deficiency
causes recurrent Neisseria bacteremia
C5-C8 (MAC) deficiencies
causes complement-mediated lysis of RBCs and paroxysmal nocturnal hemoglobinuria (PNH)
DAF (GPI anchored enzyme) deficiency

(decay accelerating factor)
anaphylaxis, allergic & atopic disorders are all what type hypersensitivity?
type 1: immediate, anaphylactic, atopic

What tests type 1 disorders?
scratch test and radioimmunosorbent assay
Erythroblastosis fetalis, rheumatic fever, goodpasture's syndrome, bullous & pemphigus vulgaris, Grave's disease and myasthenia gravis are all what type hypersensitivity disorders?
type 2: disease tends to be specific to tissue or site where antigen is found

What tests type 2?
direct and indirect coomb's
SLE, RA, PAD, serum sickness, arthus rxn, hypersensitivity pneumonitis are all what type hypersensitivity disorders?
type 3: can be associated w/ vasculitis and systemic manifestations

What tests type 3?
immunofluorescent staining
Type 1 DM, MS, GBS, Hashimoto's, Graft-vs-host disease, PPD, and contact dermatitis are all what type hypersensitivity rxns?
type 4: response is delayed and does NOT involve antibodies

what tests type 4?
patch test (i.e. ppd)
pemphigus vulgaris
hashimoto's thryogiditis
hashimoto's thyroiditis
anti-smooth muscle
autoimmune hepatitis
anti-glutamate decarboxylase
type 1 DM
Primary biliary cirrhosis
celiac disease
recurrent bacterial infections after 6 months (decrease in maternal IgG) due to opsonization defect.

Absence of thymic shadow
Bruton's agammaglobinemia
X-linked recessive

Defect in BTK, a tyrosine kinase--> blocks pro-B cells from forming pre-B cells
Normal pro-B
decreased maturation, number of B cells, immunoglobulins of all classes
severe pyogenic infections early in life
Hyper-IgM syndrome

Defect in CD40L on Th cells causing inability to class switch
Increased IgM
Decreased IgG, IgA, IgE
sinus and lung infections, milk allergies and diarrhea
Anaphylaxis on exposure to blood products w/ IgA
Selective Ig deficiency

defect in isotype switching --> deficiency in specific class of immunoglobulins
IgA deficiency most common

Failure to mature into plasma cells. Decreased secretory IgA
Can be acquired in 20s-30s; risk of autoimmune disease, lymphoma, sinopulmonary infections

Defect in B-cell maturation; many causes
Normal number of B cells; decreased plasma cells, immunoglobulins
Tetany (hypocalcemia), recurrent viral/fungal infections, congenital heart and great vessel defects
Thymic aplasia (DiGeorge Syndrome)

22q11 deletion; failure to develop 3rd and 4th pharyngeal pouches
Thymus and parathyroids fail to develop--< decreased T cells, decreased PTH, decreased Ca++

Absent of thymic shadow on CXR
disseminated mycobacterial infections
IL-12 receptor deficiency

Decrease in TH1 response
decreased IFN-gamma
coarse facies, cold staphylococcus abscesses, retained primary teeth, increased IgE, Dermatologic problems (eczema)
Hyper-IgE syndrome (Job's syndrome)

Th cells fail to produce IFN-gamma--> inability of neutrophils to repsond to chemotactic stimuli
increased IgE
candida albicans infections of skin and mucous membranes
Chronic mucocutaneous candidaisis:

T-cell dysfunction
recurrent viral, bacterial, fungal and protozoal infections due to both B and T cell deficiency. Absence of thymic shadow, germinal centers, and B cells.

Treatment: bone marrow transplant

Several types: defect IL-2 receptor (most common, x-linked),
ADA deficiency
Failure to synthesize MHC II antigens
decreased IL-2R
Increased adenine
decreased dNTPs, DNA synthesis
Triad: cerebellar defects (ataxia), spider angiomas (telangectasia), IgA deficiency

Defects in ATM gene, which codes for DNA repair enzymes
IgA deficiency
Triad: Thrombocytopenic purpura, Infections, Eczema
Wiskott-Aldrich syndrome

X-linked recessive defect. Progressive deletion of B and T cells
increased IgE, IgA
Decreased IgM
recurrent bacterial infections, absent pus formation, delayed separation of umbilicus
LAD Type 1

Defect in LFA-1 antigen (CD18) protein on phagocytes
recurrent pyogenic infection by staph and strept; partial albinism, peripheral neuropathy
Chediak-Higashi syndrome

autosomal recessive; defect in lysosomal regulator trafficing gene (LYST).

Microtubule dysfunction in phago-lysosome fusion
Increased susceptibility to catalase-positive organisms (S. aureus, E. coli, Aspergillus)
Chronic granulomatous Disease

Lack of NADPH oxidase --> decrease reactive oxygen species and absent respiratory burst in neutorphils
negative nitroblue tetrazolium dye reduction test
abl (oncogene)
tyrosine kinase
c-myc (oncogene)
Burkitt's lymphoma
transcription factor
bcl-2 (oncogene)
follicular and undifferentiated lymphomas
anti-apoptotic molecule
erb-B2 (oncogene)
Gastric carcinomas
tyrosine kinase
ras (oncogene)
Colon carcinoma
L-myc (oncogene)
Lung Tumor
Transcription factor
N-myc (oncogene)
transcription factor
ret (oncogene)
Multiple Endocrine Neoplasia (MEN) types IIA and IIB
Tyrosine Kinase
c-kit (oncogene)
Gastrointestinal stromal tumor (GIST)
Cytokine receptor
Rb (tumor suppressor gene)
Retinoblastoma, osteosarcoma
Rb gene product blocks G1--> S phase of cell cycle
p53 (tumor suppressor gene)
Most cancers
Li-Fraumeni syndrome
p53 gene product blocks G1--> S phase of the cell cycle
BRCA1 (tumor suppressor gene)
Breast and Ovarian cancer
DNA repair protein
BRCA2 (tumor suppressor gene)
Breast Cancer
DNA repair protein
p16 (tumor suppressor gene)
APC (tumor suppressor gene)
Colorectal cancer (associated w/ FAP)
WT1 (tumor suppressor gene)
Wilm's Tumor
NF1 (tumor suppressor gene)
Neurofibromatosis type 1
NF2 (tumor suppressor gene)
Neurofibromatosis type 2
DPC (tumor suppressor gene)
Pancreatic Cancer
DPC: Deleted in Pancreatic Cancer
DCC (tumor suppressor gene)
Colon Cancer
DCC: deleted in Colon Cancer
Name the disease:
mental retardation
flat facies
epicanthal folds
simian crease
Down Syndrome (Trisomy 21)
associated w/ increased risk of ALL and Alzheimer's

quad screen: increased B-hCG, inhibin A
Decreased: a-FP, estriol
Name the disease:
severe mental retardation
low-set ears
clenched hands
Edward's Syndrome (18)
quad screen: all decreased
Name the disease:
severe mental retardation
cleft lip/palate
Patau's syndrome (13)
quad screen is normal
Name the disease:
growth retardation
fair skin
musty body odor
Rx: decrease phenylalanine and increase tyrosine
Name the disease:
dark connective tissue
brown pigmented sclera
black urine
Alkaptonuria (ochronosis)
Congenital deficiency of homogentisic acid oxidase
What causes albinism?
deficiency of
1) tyrosinase
2) defective tyrosine transporters
Name the disease:
tall stature
lens subluxation
joint restriction
3 forms:
1) Cystathionine synthase deficiency
2) decrease affinity of cystathionine synthase for pyridoxal phosphate
3) homocysteine methyltransferase deficiency
Cystinuria is a renal tubular amino acid transporter defect for what 4 amino acids

how can you treat the precipitation of cystine kidney stones?
acetazolamide to alkalinize the urine
Maple syrup urine disease is a defect of blocked degradation of what?
branched amino acids
Ile, Leu, Val due to decrease alpha-ketoacid dehydrogenase

Causes increased ketoacids in the blood (esp. Leu)
What disease causes tryptophan excretion in urine and decreased absorption from gut leading to pellagra?
Hartnup disease (AR) - defect in neutral amino acid transporter on renal and intestinal epithelial cells
Name the disease:
severe fasting hypoglycemia (seizures)
Increased glycogen in liver
Increased blood lactate
Von Gierke's disease
Type 1 Glycogen storage dz

What is the deficient enzyme?
Name the disease:
Systemic findings
early death
Pompe's Dz
Type II Glycogen storage Dz

Deficient enzyme?
lysosomal alpha-1,4-glucosdiase (acid maltase)
Type III glycogen storage disease is called what?
Cori's Dz - milder form of type I with normal lactate levels

Enzyme deficiency?
Debranching enzyme
(alpha-1,6 glucosidase)

**gluconeogenesis is intact**
Name the disease:
Increase in glycogen in muscle, but cannot break it down, leading ot painful muscle cramps, myoglobinuria w/ strenuous exercise

no Hepatomeagaly
Type V Glycogen storage Dz: McArdle's Disease

Enzyme deficiency?
Skeletal muscle glycogen phosphorylase
Name the disease:
Peripheral neuropahty of hands/feet
cardiovascal & renal disease
Fabry's Dz

What is the deficient enzyme, accumulated substrate and inheritance pattern?
DE: alpha-galactosidase A

AS: Ceramide trihexose

Name the disease:
aseptic necrosis of femur
bone crisis
Macrophages that look like crumpled tissue paper
Gaucher's Dz

What is the deficient enzyme, accumulated substrate and inheritance pattern?
DE: Glucocerebrosidase

AS: Glucocerebroside

Name the disease:
Progressive neurodegeneration
Cherry-red spot on macula
foam cells
Niemann-Pick Disease

What is the deficient enzyme, accumulated substrate and inheritance pattern?
DE: Sphingomyelinase

AS: Sphingomyelin

Name the disease:
Developmental delay
Cherry-red spot on macula
Lysosomes w/ onion skin
Tay-Sachs Dz

What is the deficient enzyme, accumulated substrate and inheritance pattern?
DE: Hexosamindase A

AS: Gm2 Ganglioside

Name the disease:
Peripheral neuropathy
Developmental delay
Optic atrophy
Globoid cells
Krabbe's Dz

What is the deficient enzyme, accumulated substrate and inheritance pattern?
DE: B-galactocerebrosidase

AS: Galactocerebroside

Name the disease:
Central and peripheral demyelination with ataxia
metachromic leukodystrophy

What is the deficient enzyme, accumulated substrate and inheritance pattern?
DE: Arylsulfatase A

AS: Cerebroside sulfate

Name the disease:
Developmental delay
Airway obstruction
Corneal Clouding
Cardiomyopathy/vavular defects
Hurler's Syndrome

What is the deficient enzyme, accumulated substrate and inheritance pattern?
DE: alpha-L-iduronidase

AS: Heparin sulfate, dermatan sulfate

Name the disease:
Mild Hurler's
aggressive behavior
No corneal clouding
Hunter's syndrome

What is the deficient enzyme, accumulated substrate and inheritance pattern?
DE: Iduronate sulfatase

AS: Heparan sulfate, dermatan sulfate

Name the disease:
eruptive/pruritix xantomas
Increased TG, cholesterol

Increased chylomicrons --> increased TG, cholesterol in blood

What enzyme deficiency?
Lipoprotein Lipase deficiency or altered apolipoprotein C-II
Name the disease:
accelerated atherosclerosis
tendon (Achilles) xanthomas
corneal arcus
IIa-Familial hypercholesterolemia

Increased LDL --> increased cholesterol in blood

What deficiency?
absent or decreased LDL receptors
Name the disease:
Increased TG
IV Hypertriglyceridemia

Hepatic overproduction of what?