Term
| Increased orotic acid, megaloblastic anemia (not improved with B12/folic acid), failure to thrive, no hyperammonemia |
|
Definition
Orotic aciduria
Treat with oral uridine administration |
|
|
Term
| Mental retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis |
|
Definition
Lesch-Nyhan syndrome (X-linked recessive)
Defective purine salvage (HGPRT) |
|
|
Term
| Coarse facial feature, clouded cornea, restricted joint movement, high plasma levels of lysosomal enzymes |
|
Definition
I-cell disease
Failure of addition of mannose-6-phosphate to lysosome proteins |
|
|
Term
| Recurrent pyogenic infections, partial albinism, peripheral neuropathy |
|
Definition
Chediak-Higashi syndrome
Mutation in the lysosomal trafficking regulator gene (LYST) |
|
|
Term
| Male infertility, decreased female fertility, bronchiectasis, recurrent sinusitis |
|
Definition
Kartagener's syndrome (primary ciliary dyskinesia)
immotile cilia due to a dynein arm defect |
|
|
Term
| Multiple fractures, blue sclerae, hearing loss, dental imperfections |
|
Definition
Osteogenesis imperfecta
Most common form is autosomal dominant with abnormal type I collagen |
|
|
Term
| Hyperextensible skin, tendency to bleed, easy bruising, hypermobile joints |
|
Definition
Ehlers-Danlos syndrome
Many different types. Collagen III (vascular type); Type I and Type V affected in severe classic Ehlers-Danlos.
May be associated with joint dislocation, berry aneurysms, organ rupture. |
|
|
Term
| Progressive nephritis (hereditary) and deafness, may be associated with ocular disturbances |
|
Definition
Alport syndrome (X-linked recessive)
Type IV collagen |
|
|
Term
| Mental retardation, hyperphagia, obesity, hypogonadism, hypotonia (imprinting) |
|
Definition
Prader-Willi syndrome
Paternal allele is not expressed |
|
|
Term
| Mental retardation, seizures, ataxia, inappropriate laughter (imprinting) |
|
Definition
Angelman's syndrome
Matneral allele is not expressed |
|
|
Term
| Dwarfism, short limbs, larger head, trunk size normal |
|
Definition
Achondroplasia (Autosomal Dominant)
Cell-signaling defect of FGFR3. Associated with advanced paternal age. |
|
|
Term
| Bilateral, massive enlargement of kidneys due to multiple large cysts. Present with flank pain, hematuria, hypertension, progressive renal failure |
|
Definition
Autosomal-dominant polycystic kidney disease.
85% cases associated with PKD1 on Ch16.
Associated with polycystic liver disease, berry aneurysms, mitral valve prolapse.
Infantile form is recessive |
|
|
Term
| Colon covered with adenomatous polyps after puberty. |
|
Definition
| Familial adenomatous polyposis (Autosomal Dominant) Progresses to colon cancer unless colon is resected. Mutations on Ch5 (APC gene) |
|
|
Term
| Elevated LDL, severe atherosclerotic disease early in life, tendon xanthomas (Achilles tendon), MI before 20. |
|
Definition
Familial hypercholesteremia (hyperlipidemia type II, autosomal dominant)
Due to defective or absent LDL receptor. |
|
|
Term
| Telangiectasia, recurrent epistaxis, skin discolorations, arteriovenous malformations. |
|
Definition
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome, autosomal dominant)
Inherited disorder of blood vessels. |
|
|
Term
| Spheroid erythrocytes, hemolytic anemia, increased MCHC |
|
Definition
Hereditary spherocytosis (autosomal dominant)
Due to spectrin or ankyrin defect, splenectomy is curative. |
|
|
Term
| Depression, profressive dementia, choreiform movements. |
|
Definition
Huntington's disease (autosomal dominant)
Caudate atrophy, decreased levels of GABA and Ach in the brain. Symptoms manifest between 20 and 50 on chromosome 4 (CAG repeat) |
|
|
Term
| Tall with long extremities, pectus excavatum, hypermobile joints, long and tapering fingers and toes (arachnodactyly), cystic medial necrosis of aorta, floppy mitral valve, subluxation of lenses. |
|
Definition
Marfan's syndrome (autosomal dominant)
Fibrillin-1 gene mutation |
|
|
Term
| Parathyroid tumors, pituitary tumors, pancreatic endocrine tumors, kidney stones, ulcers |
|
Definition
| MEN 1 (autosomal dominant) |
|
|
Term
| Medullary thyroid carcinoma, pheochromocytoma, parathyroid tumors |
|
Definition
MEN 2a (autosomal dominant)
associated with ret gene |
|
|
Term
| Medullary thyroid carcinoma, pheochromocytoma, oral/intestinal ganglioneuromatosis, marfanoid habitus |
|
Definition
MEN 2b (autosomal dominant
associated with ret gene |
|
|
Term
| Cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris harmatomas), skeletal disorders (scolosis) and optic pathway gliomas |
|
Definition
Neurofibromatosis type 1 (vonRecklinghausen's disease, autosomal dominant)
Long arm fo Ch17 |
|
|
Term
| Bilateral acoustic schwannomas, juvenile cataracts |
|
Definition
Neurofibromatosis type 2 (autosomal dominant)
NF2 gene on Ch22 |
|
|
Term
| Facial lesions (adenoma sebaceum, hypopigmented "ash leaf spots" on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts and renal angiomyolipomas, cardiac rhabdomyomas, astrocytomas |
|
Definition
| Tuberous sclerosis (autosomal dominant) |
|
|
Term
| Hemangioblastomas of retina/cerebellum/medulla, risk of developing bilateral renal cell carcinoma and other tumors |
|
Definition
von Hippel-Lindau disease (autosomal dominant)
Deletion of VHL gene (tumor suppressor) on Ch3. Results in constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors. |
|
|
Term
| Recurrent pulmonary infections (Pseudomonas, S. aureus), chronic bronchitis, bronchiectasis, pancreatic insufficiency, nasal polyps, meconium ileus in newborns. Failure to thrive, fat-soluble vitamin deficiencies. |
|
Definition
Cystic fibrosis (autosomal recessive)
Defect in CFTR gene on Ch7. Mutation causes abnormal protein folding, degrades before reaching cell surface.
Infertility in males due to bilateral absence of vas deferens. |
|
|
Term
| X-linked recessive disorders |
|
Definition
Be Wise, Fool's GOLD Heeds Silly HOpe
Bruton's agammaglobinemia Wiskott-Aldrich syndrome, Fabry's disease, G6PD deficiency, Ocular albinism, Lesch-Nyhan syndrome, Duchenne's (and Becker's) muscular dystrophy, Hunter's Syndrome, Hemophilia A and B, Ornithine transcarbamoylase deficiency |
|
|
Term
| Weakness beginning in pelvic girdle muscles and progresses superiorly. Pseudohypertrophy of calf muscles. Use of Gower's maneuver to stand up. |
|
Definition
Duchenne's (X-linked recessive)
Deleted dystrophin gene (helps anchor muscle fibers, primarily in skeletal and cardiac muscle. Increased CPK and muscle biopsy for diagnosis. Pseudohypertrophy caused by fibrofatty replacement of muscle.
Becker's is less sever |
|
|
Term
| Macro-orchidism, long face with a large jaw, large everted ears, autism, mitral valve prolapse |
|
Definition
Fragile X syndrome (X-linked recessive)
Defect affecting methylation and expression of FMR1 gene.
Trinucleotide repeat (CGG) |
|
|
Term
Trinucleotide repeats:
Huntington's
Myotonic dystrophy,
Friedreich's ataxia
Fragile X |
|
Definition
Huntingtons (CAG)
Myotonic dystrophy (CTG)
Friedreich's ataxia (GAA)
Fragile X (CGG) |
|
|
Term
| Mental retardation, flat facies, prominent epicanthal folds, simian crease, fapy between 1st 2 toes, duodenal atresia, congenital heart disease, increased risk of ALL and Alzheimer's |
|
Definition
Down syndrome
Meiotic nondisjuntion of homologous chromosomes
Decreased AFP, increased B-hCG, decreased estriol, increased inhibin A
Ultrasound shows increased nuchal translucency in first trimester |
|
|
Term
| Severe mental retardation, rocker-bottom feet, micrognathia (small jaw) low-set ears, clenched hands, prominent occiput, congenital heart disease. Death usually within 1 year. |
|
Definition
Edwards' syndrome (trisomy 18)
Most common trisomy resulting in live birth after Down syndrome.
decreased AFP, decreased B-hCG, decreased estriol, normal inhibin A |
|
|
Term
| Severe mental retardation, rocker bottom feet, microthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, congenital heart disease. Death usually within 1 year. |
|
Definition
Patau's syndrome (trisomy 13)
decreased free B-hCG, decreased PAPP-A, increased nuchal translucency. |
|
|
Term
| Microcephaly, moderate to severe mental retardation, high pitched crying/mewing, epicanthal folds, cardiac abnormalities (VSD) |
|
Definition
Cri-du-chat syndrome
Congenital microdeletion of short arm of Ch5 |
|
|
Term
| "Elfin" facies, intellectual disability, hypercalcemia (increased sensitivity to vitamin D), well-developed verbal skills, extreme friendliness with strangers, cardiovascular problems |
|
Definition
Williams syndrome
Congenital microdeletion on long arm of Ch7 (includes elastin gene) |
|
|
Term
| Cleft palate, abnormal facies, thymic aplasia, cardiac defects, hypocalcemia |
|
Definition
22q11 deletion syndroms
DiGeorge syndrome (thymic, parathyroid and cardiac defects)
Velocardiofacial syndrome (palate, facial and cardiac defects) |
|
|
Term
| Night blindness, dry skin |
|
Definition
Vitamin A deficiency
Antioxidant, constituent of visual pigments, differentitation of epithelial cells in pancreatic cells and mucus secreting cells, prevents squamous metaplasia.
**Used to treat measles and AML subtype M3 |
|
|
Term
| Arthralgias, fatigue, headaches, skin changes, sore throat, alopecia. |
|
Definition
|
|
Term
| ATP depletion worsened by glucose. |
|
Definition
Thiamine deficiency (B1)
Cofactor for pyruvate dehydrogenase, a-ketoglutarate dehydrogenase, Transketolase, Branched chain amino acid dehydrogenase |
|
|
Term
Confusion, ophthalmoplegia, ataxia (classic triad)
+ confabulation, personality change, memory loss (permanent) |
|
Definition
Wernicke-Korsakoff (Thiamine deficiency)
Damage to medial dorsal nucleus of thalamus, mamillary bodies. |
|
|
Term
| Polyneuritis, symmetrical muscle wasting, thiamine deficiency |
|
Definition
|
|
Term
| High-output cardiac failure (dilated cardiomyopathy), edema, thiamine deficiency |
|
Definition
|
|
Term
| Cheilosis, corneal vascularization |
|
Definition
Riboflavin deficiency (B2)
Cofactor in oxidation and reduction |
|
|
Term
| Glossitis, diarrhea, dementia, dermatitis, malignant carcinoid syndrome. |
|
Definition
Niacin deficiency (B3)
Pellagra: Diarrhea, Dementia, Dermatitis.
Constituent in NAD+ and NADP+ (redox reactions). Derived from tryptophan. Synthesis requires B2 and B6. |
|
|
Term
| Dermatitis, enteritis, alopecia, adrenal insufficiency |
|
Definition
Vitamin B5 deficiency (pantothenate)
Essential component of CoA (acyl transfers) and fatty acid synthase. |
|
|
Term
| Convulsions, hyperirritability, peripheral neuropathy (inducible by INH and oral contraceptives, sideroblastic anemias |
|
Definition
Vitamin B6 deficiency
Cofactor for (1) transamination (ALT and AST), (2) decarboxylation reactions, (3) glycogen phosphorylase, (4) synthesis of cystathione, heme, niacin, histamine, neurotransmitters |
|
|
Term
| Dermatitis, alopecia, enteritis, caused by antibiotic use or excessive ingestion of raw eggs |
|
Definition
Vitamin B7 (biotin) deficiency
Cofactor for carboxylation enzymes (1) Pyruvate carboxylase: pyruvate to OAA; (2) Acetyl CoA carboxylase: acetyl CoA to malonyl CoA; (3) Propionyl-CoA carboxylase: propionyl-CoA to methylmalonyl CoA |
|
|
Term
| Macrocytic, megaloblastic anemia, no neurologic symptoms (most common in the US). Caused by phenytoin, sulfonamides, MTX. |
|
Definition
Vitamin B9 (folic acid)
Neural tube defects in fetus
Important for the synthesis of nitrogenous bases in DNA and RNA. |
|
|
Term
| Macrocytic, megaloblastic anemia, hypersegmented PMNs, neurologic symptoms (paresthesias, subacute combined degeneration (abnormal myelin) |
|
Definition
Vitamin B12 (cobolamin)
Cofactor for homocysteine methyltransferase and methylmalonyl-CoA mutase |
|
|
Term
| Swollen gums, bruising, hemarthrosis, anemia, poor wound healing |
|
Definition
Vitamin C defiency (scurvy)
Antioxidant, facilitates iron absorption by keeping iron in Fe2+ state, necessary for hydroxylation of proline and lysine in collagen synthesis, necessary for dopamine beta-hydroxylase (dopamine to NE) |
|
|
Term
| Nausea, vomiting, diarrhea, fatigue, sleep problems, increased risk of iron toxicity in those with transfusions or hereditary hemochromatosis |
|
Definition
|
|
Term
| Bone pain and deformity, hypocalcemic tetany, |
|
Definition
Vitamin D deficiency
Breast milk has decreased vitamin D (supplement in dark-skinned patients). |
|
|
Term
| Hypercalcemia, hypercalcuria, loss of appetite, stupor |
|
Definition
| Vitamin D excess (seen in sarcoidosis) |
|
|
Term
| Increased fragility of erythrocytes, muscle weakness, posterior column and spinocerebellar tract demyelination. |
|
Definition
Vitamin E deficiency
Antioxidant |
|
|
Term
| Neonatal hemorrhage with increased PT and aPTT but nromal bleeding time. Can occur after long term use of broad spectrum antibiotics |
|
Definition
Vitamin K defciency
Catalyzes gamma carboxylation of glutamic acid residues on various proteins with blood clotting. Synthesized by intestinal flora. |
|
|
Term
| Delayed wound healing, hypogonadism, decreased adult hair, dysgeusia, anosmia, acrodermatitis enteropathica (rash around eyes, mouth, nose, arms), depressed mental function, impaired night vision, decreased fertility |
|
Definition
Zinc deficiency
Essential for the activity of 100+ enzymes. Important in the formation of zinc fingers (transcription factor motif), essential for carbonic anhydrase, lactate dehydrogenase |
|
|
Term
| Lactic acidosis, neurologic defects (starting in infancy), increased pyruvate and alanine. Treated with increased intake of ketogenic nutrients (high fat content or increased lysine and leucine) |
|
Definition
Pyruvate dehydrogenase complex deficiency
X-linked gene for E1-alpha subunit of PDC |
|
|
Term
| Hemolytic anemia caused by fava beans, sulfonamides, primaquine, antituberculosis drugs, infection |
|
Definition
G6PD deficiency
X-linked recessive disorder, increased malarial resistance |
|
|
Term
| Fructose appears in blood and urine |
|
Definition
Essential fructosuria (autosomal recessive)
Defect in fructokinase, benign, asymptomatic |
|
|
Term
| Hypoglycemia, jaundice, cirrhosis, vomiting |
|
Definition
Fructose intolerance (autosomal recessive)
Deficiency in aldolase B. Decreased in available phosphate results in inhibition of glycogenolysis and gluconeogenesis |
|
|
Term
| Sugar in blood and urine, infantile cataracts, failure to track objects or to develop social smile |
|
Definition
| Galactokinase deficiency (autosomal recessive) |
|
|
Term
| Failure to thrive, jaundice, hepatomegaly, infantile cataracts, mental retardation. |
|
Definition
Classic galactosemia (autsomal recessive)
Absence of galactose-1-uridyltransferase.
Accumulation of toxic substances (galactitol)
Treat by excluding galactose and lactose (galactose + glucose) from diet |
|
|
Term
| Bloating, cramps, osmotic diarrhea |
|
Definition
|
|
Term
| Asterixis, slurring of speech, somnolence, vomiting, cerebral edema, blurring of vision |
|
Definition
Hyperammonemia
Treatment: limit protein in diet, benzoate or phenylbutyrate (both bind to amino acid), lactulose (acidifies GI tract to trap NH4+) |
|
|
Term
| Increased orotic acid in blood and urine, decreased BUN, symptoms of hyperammonemia |
|
Definition
Ornithine transcarbamoylase deficiency (X-linked recessive)
Most common urea cycle disorder, often evident in first few days of life. |
|
|
Term
| Mental retardation, growth retardation, seizures, fair skin, eczema, musty body odor |
|
Definition
Phenylketonuria (autosomal recessive)
Decrease in decrease phenylalanine hydroxylase or decrease in THB4 cofactor.
Treatment: decrease phenylalanine (in aspartame) and increase tyrosine in diet. |
|
|
Term
| Newborn has microcephaly, mental retardation, growth retardation, congenital heart defects |
|
Definition
|
|
Term
| Dark connective tissue, brown pigmented sclera, urine turns black on prolonged exposure to air, debilitating arthralgias possible |
|
Definition
Alkaptonuria (ochronosis) (autosomal recessive)
Congenital deficiency of homogentisic acid oxidase in degradative pathway of tyrosine to fumarate. Benign. |
|
|
Term
|
Definition
| Congenital deficiency of either tyrosinase (autosomal recessive) or defective tyrosine transporters or from a lack of migration of neural crest cells. |
|
|
Term
| Increased homocysteine in urine, mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation (down and in) and atherosclerosis |
|
Definition
Homocystinuria (autosomal recessive)
From (1) cystathionine synthase deficiency (tx with decreased Met and increased Cys and B12 and folate) (2) decreased affinity of cystathionine synthase for pyridoxal phosphate (tx with increased B6) or (3) homocysteine methyltransferase deficiency (needs B12) |
|
|
Term
| Precipitation of hexagonal crystals and renal staghorn calculi |
|
Definition
Cystinuria
Autosomal recessive defect of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine (COLA)
Tx: good hydration and urinary alkalinization |
|
|
Term
| Sweet smelling urine, severe CNS defects, mental retardation, death |
|
Definition
Maple Syrup Urine Disease
Autosomal recessive deficiency of alpha-ketoacid dehydrogenase. Blocked degradation of isoleucine, lysine, valine (I love vermont maple syrup). Leucine readily crosses BBB. |
|
|
Term
| Tryptophan excretion in urine, pellagra, signs of photosensitivity and episodic psych changes |
|
Definition
Hartnup disease
Autosomal recessive disorder with defective neutral amino acid transporter on renal and intestinal epithelial cells.
Tx: Nicotinic acid/nicotinamide and high protein diet. |
|
|
Term
| Severe fasting hypoglycemia, increased glycogen in liver, increased blood lactate, hepatomegaly, hyperuricemia, hyperlipidemia |
|
Definition
| Von Gierke's disease (type I); Glucose-6-phosphatase deficiency; Autosomal recessive |
|
|
Term
| Cardiomegaly and systemic finds (liver and muscle) that lead to death. Normal blood sugar and glycogen structure. |
|
Definition
| Pompe's disease (type II); Lysosomal alpha-1,4-glucosidase deficiency; Autosomal recessive |
|
|
Term
| Severe fasting hypoglycemia, increased glycogen in liver, normal blood lactate levels. |
|
Definition
Cori's disease (type III); Debranching enzyme/alpha-1,6-glucosidase deficiency; Autosomal recessive
Milder form of Type I |
|
|
Term
| Increased glycogen in muscle, painful muscle cramps, myoglobinuria with strenuous exercise. |
|
Definition
| McArdle's disease (Type V); Skeletal muscle glycogen phosphorylase deficiency; Autosomal recessive |
|
|
Term
| Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease |
|
Definition
| Fabry's disease; alpha-galactosidase A deficiency, build up of ceramide trihexoside; XR |
|
|
Term
| Hepatosplenomegaly, aseptic necrosis of femur, bone crises, Macrophages that look like crumpled tissue paper. |
|
Definition
| Gaucher's disease; glucocerebrosidase deficiency, build up of glucocerebroside; AR (most common) |
|
|
Term
| Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells |
|
Definition
| Niemann-Pick disease; Sphingomyelinase deficiency; sphingomyelin; AR |
|
|
Term
| Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin, no hepatosplenomegaly |
|
Definition
| Tay-Sachs; Hexosaminidase A deficiency; build up of GM2 ganglioside; AR |
|
|
Term
| Peripheral neuropathy, developmental delay, optic atrophy, globoid cells |
|
Definition
| Krabbe's disease; Galactocerebrosidase deficiency; build up of galactocerebroside; AR |
|
|
Term
| Central and peripheral demyelination with ataxia and dementia |
|
Definition
| Metachromatic leukodystrophy; Arylsulfatase A deficiency; build up of cerebroside sulfate; AR |
|
|
Term
| Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly |
|
Definition
| Hurler's syndrome; alpha-L-iduronidase deficiency; build up of heparan sulfate/dermatan sulfate; AR |
|
|
Term
| Developmental delay, gargoylism, airway obstruction, no corneal clouding, hepatosplenomegaly, agressive behavior |
|
Definition
| Hunter's syndrome; iduronate sulfatase; build up of heaparan sulfate/dermatan sulfate; XR |
|
|
Term
| Weakness, hypotonia, hypoketotic hypoglycemia |
|
Definition
Carnitine deficiency
Inability to transport LCFAs into mitochondria |
|
|
Term
| Pancreatitis, hepatosplenomegaly, eruptive/pruitic xanthomas (no increased risk for atherosclerosis) |
|
Definition
Type I hyperchylomicronemia, AR, lipoprotein lipase deficiency or altered apolipoprotein C-II
Increased blood level of chylomicrons, TGs, cholesterol |
|
|
Term
| Autosomal dominant disease that causes hepatic overproduction of VLDL and causes pancreatitis |
|
Definition
| Type III hypertriglyceridemia |
|
|
Term
| Newborn presents with failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindness |
|
Definition
| Abetalipoproteinemia; AR mutation in microsomal triglyceride transfer protein MTP that leads to decreased B-48 and/or B-100. |
|
|
Term
|
Definition
C1 esterase inhibitor deficiency
ACE inhibitors are contraindicated, bradykinin levels high |
|
|
Term
| Severe, recurrent pyogenic sinus and respiratory tract infections; increased susceptibility to type III hypersensitivity reactions |
|
Definition
|
|
Term
| Recurrent Neisseria infections |
|
Definition
|
|
Term
| Complement-mediated lysis of RBCs and paroxysmal nocturnal hemoglobinuria |
|
Definition
| DAF (GPI anchored enzyme) deficiency |
|
|
Term
|
Definition
| Measles, mumps, polio (Sabin), rubella, varicella, yellow fever, intranasal influenza |
|
|
Term
| Inactivated or killed vaccines |
|
Definition
| Cholera, hepatitis A, polio (Salk), rabies, IM influenza |
|
|
Term
|
Definition
|
|
Term
| Recurrent bacterial infections after 6 months as a result of opsonization defect |
|
Definition
X-linked Bruton's Agammaglobinemia
Defect in BTK tyrosine kinase gene; no B cell maturation |
|
|
Term
| Anaphylaxis to IgA-containing blood products |
|
Definition
Selective IgA deficiency
False positive beta-HCG tests due to presence of heterophile antibody |
|
|
Term
| Can be acquired in 20s-30s, increased risk of autoimmune disease, lymphoma, sinopulmonary infections |
|
Definition
| Common Variable Immunodeficiency (Defect in B-cell maturation) |
|
|
Term
| Tetany, recurrent viral/fungal infections, congenital heart and great vessel defects |
|
Definition
Thymic aplasia (DiGeorge syndrome)
22q11 deletion, absent thymic shadow on CXR |
|
|
Term
| What immunodeficiency leads to disseminated mycobacterial infections |
|
Definition
| IL-12 receptor deficiency (decreased Th1 response and decreased IFN gamma) |
|
|
Term
| Coarse facies, cold staphlococcal abscesses, retained primary teeth, eczema |
|
Definition
Hyper-IgE syndrome (Job's)
Th1 cells fail to produce IFN gamma-- inability of neutrophils to respond to chemotactic stimuli |
|
|
Term
| Immunodeficiency that leads to Candia albicans infections of skin and mucous membranes |
|
Definition
| Chronic mucocutaneous candidiasis (T-cell dysfunction) |
|
|
Term
| Failure to thrive, chronic diarrhea, thrush, absence of thymic shadow, recurrent infections |
|
Definition
SCID; most common is XLR caused by adenosine deaminase deficiency.
Decreased T-cell recombinant excision circles (TRECs) |
|
|
Term
| Cerebellar defects, spider angiomas, IgA deficiency |
|
Definition
Ataxia-telangiectasia; defect in ATM gene that codes for DNA repair enzymes
Increase in AFP and increased risk of lymphoma/leukemia |
|
|
Term
| Severe pyogenic infections early in life |
|
Definition
Hyper-IgM syndrome
Most common- defect in CD40L on helper T cells (cannot class switch) |
|
|
Term
| Thrombocytopenic purpura, Infections, Eczema |
|
Definition
Wiskott-Aldrich syndrom; XLR on WASP gene
T cells unable to reorganize actin cytoskeleton. |
|
|
Term
| Recurrent bacterial infections, absent pus formation, delayed separation of umbilical cord |
|
Definition
Leukocyte adhesion deficiency Type 1
Defect in LFA-1 integrin (CD18) protein on phagocytes |
|
|
Term
| Recurrent pyogenic infections by staph and strep, partial albinism, peripheral neuropathy |
|
Definition
Chediak-Higashi syndrome (AR)
Defect in lysosomal trafficking regulator gene (LYST). Microtubule dysfunction in phagosome-lysosome fusion. |
|
|
Term
| Increase susceptibility to S. aureus, E. coli, Aspergillus |
|
Definition
Chronic granulomatous disease
Lack of NADPH oxidase; susceptible to catalase positive organisms. Abnormal dihydrorhodamine (DHR) flow cytometry (Nitroblue tetrazolium dye reduction no longer preferred). |
|
|
