Selective IgA Deficiency
Defect in Class Switching Decreased IgA Often Asymptomatic Increase in Atopic & Autoimmune Diseases Sinopulmonary Infections Increased Risk Giardia Lamblia Infections Inflammatory Bowel Disease Celiac Disease Anaphylaxis From IgA Containing Blood Products I-cell Disease (Inclusion Cell Disease)
Mucolipidosis II Autosomal Recessive Defective N-acetylglucosaminyl-1-phosphotransferase Absent Mannose-6-Phosphate on Glycoproteins Accumulation of Lysosomal Debris Coarse Facies Corneal Clouding Skeletal Abnormalities Increased Plasma Lysosomal Enzymes Inclusion Bodies Poor Prognosis Lesch-Nyhan Syndrome
X-linked Recessive Absence of HGPRT Hypoxanthine to IMP Guanine to GMP PRPP is Increased Excess Uric Acid Gout Intellectual Disability Self-mutilation Choreoathetosis Allopurinol Febuxostat Tay-Sachs Disease
Autosomal Recessive Hexosaminidase A Deficiency Increased GM2 Ganglioside More Common in Ashkenazi Jewish Population Cherry Red Spot on Macula Neurodegeneration Developmental Delay Onion Skin Lysosomes G6PD Deficiency
X-linked Recessive Hemolytic Anemia Inflammatory Response Fava Beans Sulfonamides Primaquine Anti TB Drugs Heinz Bodies Bite Cells Prevalent Among African Americans due to Increased Malarial Resistance Ornithine Transcarbamylase Deficiency
Most Common Urea Cycle Disorder X-Linked Recessive Hyperammonemia Decreased BUN Carbamoyl Phosphate is Converted to Orotic Acid Pyrimidine Synthesis Pathway Evident in Babies Pompe Disease
Type II Glycogen Storage Disease Autosomal Recessive Deficiency of Lysosomal Alpha 1,4 Glucosidase Acid Maltase Hypertrophic Cardiomyopathy Hepatomegaly Macroglossia Hypotonia Increased Glycogen within Lysosomes Increased Lactate Dehydrogenase (LDH) Increased Creatine Kinase (CK/CPK) Cori Disease
Type III Glycogen Storage Disease Deficiency of Alpha 1, 6 Glucosidase Debranching Enzyme Limit-Dextrin Accumulation (In Cytosolic Structures) Hypoglycemia Muscle Weakness Hypotonia Stunted Growth Hepatomegaly Normal Blood Lactic Acid Levels Gluconeogenesis Intact Increased LFT's Increased Creatine Kinase (CK/CPK) Continuous Feeding High Protein Diet Cornstarch (Uncooked) Maple Syrup Urine Disease
Defect in alpha ketoacid dehydrogenase Blocked degradation of branched chain amino acids Leucine Isoleucine Valine Seizures Intellectual Disability Vitamin C Mechanism and Deficiency
Ascorbic acid Antioxidant Protects Against Free Radicals Keeps Iron in Reduced State Hydroxylation of Proline and Lysine Necessary for Dopamine B Hydroxylase Scurvy Swollen Gums Bruising Poor Wound Healing Hemarthrosis Perifollicular Hemorrhages Anemia Adenosine Deaminase Deficiency
Adenosine to Inosine Excess ATP Inhibition of Ribonucleotide Reductase Prevents DNA Synthesis Decreases B Cells and T Cells Major cause of SCID Severe Combined Immunodeficiency (SCID)
Both B and T Cell Deficiency Recurrent Viral, Bacterial, Fungal, Protozoal Infections Defective Interleukin (IL) 2 Receptor X-Linked Adenosine Deaminase Deficiency Failure to Synthesize MHC II Antigens Treat with Bone Marrow Transplant Hypersensitivity Type I
Previous Antigen Exposure Immediate Reaction IgE Cross-linking Presensitized Mast Cells Histamine Release Vasodilation Anaphylaxis Allergies Epinephrine Hypersensitivity Type II
Cytotoxic IgM or IgG antibody-mediated Membrane Attack Complex (MAC) Opsonization Complement Activation NK Cells Direct Coombs test Indirect Coombs Test Hypersensitivity Type III
Immune Complex Antigen-antibody (IgG) complex activates complement Neutrophils release lysozomal enzymes Arthus Reaction Serum Sickness Systemic Lupus Erythematosus (SLE) Hypersensitivity Type IV
Delayed-Type Hypersensitivity T Cell Mediated Antibody Independant Macrophages Activated Transplant Rejection PPD Skin Test Contact Dermatitis Xeroderma Pigmentosum
Defective Nucleotide Excision Repair Pyrimidine Dimer Accumulation Autosomal Recessive Susceptible to UVA and UVB Rays Actinic Keratosis Neurodegeneration Photosensitivity Corneal Ulcers Hyperpigmented Lentigines Increased Risk of Skin Cancer Atopic Dermatitis / Eczema
Pruritic Vesicles Inflammatory Skin Rash Cheeks in Children Skin Flexural Areas Associated with Asthma and Allergic Rhinitis Tacrolimus Moisturizers Corticosteroids Phototherapy Avoid Triggers Antihistamines Chronic Granulomatous Disease
Most Commonly X-linked Recessive Defective NADPH Oxidase (Enzyme Complex) Decreased Hydrogen Peroxide Impaired Intracellular Killing in Phagocytes Recurrent Purulent Skin and Lung Infections Catalase Positive Organisms Negative Nitroblue Tetrazolium Test DHR (Dihydrorhodamine) Flow Cytometry Antimicrobial Prophylaxis TMP-SMX Itraconazole Interferon-Gamma McArdles Disease
Type V Glycogen Storage Disease Muscle Glycogen Phosphorylase Deficiency Increased Glycogen in Muscle Painful Muscle Cramps Myoglobinuria Normal Lactic Acid Vitamin B6 View More
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