Warfarin Antidotes
Vitamin K Fresh Frozen Plasma Pharyngeal Arch Derivatives: 3rd Arch
Greater Horn of Hyoid Stylopharyngeus CN IX (Glossopharyngeal) Common Carotid Internal Carotid Leukocyte Adhesion Deficiency
Autosomal Recessive Integrin CD18 Protein Defect in LFA-1 Attached to ICAM Neutrophilia Bacterial Infections Non-Pyogenic Delayed Separation of Umbilical Cord 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 Thymic Aplasia (DiGeorge Syndrome)
DiGeorge Syndrome 22q11 Deletion Failure to Develop Third and Fourth Pharyngeal Pouches Undeveloped Thymus T Cell Deficiency Recurrent Viral and Fungal Infections Undeveloped Parathyroids Hypocalcemia Tetany Aortic Defects Congenital Heart Defects Absent Thymic Shadow on CXR Bruton's Agammaglobulinemia
X-linked Recessive Defective Bruton Tyrosine Kinase Blocks B Cell Maturation Decreased Immunoglobulins of All Classes Bacterial Infections After Six Months Maternal IgG Protects Before Six Months Hyper IgE Syndrome
Job Syndrome (Autosomal Dominant Hyper IgE Syndrome) Autosomal Dominant STAT3 Mutation Increased IgE Abnormal Chemotaxis Leonine Facies Cold (Non-Inflamed) Staph Aureus Abscesses Retained Primary Teeth Eczema Prophylactic Antibiotics Werdnig Hoffman
Destruction of anterior horns of spinal cord Poliomyelitis asymmetrical Werdnig Hoffman autosomal recessive Autosomal recessive death by 7 months LMN lesions Floppy baby tongue fasciculation Cyclosporine (Sandimmune) Overview
Immunosuppressant Inhibits Calcineurin, Decreasing IL-2 Prevent Transplant Rejection Psoriasis Rheumatoid Arthritis Monitor Plasma Levels Avoid Grapefruit Juice Increased Risk of Lymphoma Cyclosporine (Sandimmune) Side Effects
Nephrotoxicity Hepatotoxicity Infection Hypertension Hirsutism Tremor Hyperkalemia Hypomagnesemia Gingival Hyperplasia Tacrolimus (Prograf) Overview
Immunosuppressant Inhibits Calcineurin, Decreasing IL-2 Transplant Rejection Atopic Dermatitis Increased Lymphoma Risk Avoid Grapefruit Juice Tacrolimus (Prograf) Side Effects
Nephrotoxicity Neurotoxicity GI Distress Infection Hypertension Hyperkalemia Hyperglycemia Sirolimus (Rapamycin)
Sirolimus (rapamycin) mTOR inhibitor Binds FKBP Blocks T cell activation and B cell differentiaion by preventing response to IL-2 Kidney Transplant rejection prophylaxis Side effect: Pancytopenia Side effect: Increased Insulin Resistance Side effect: Hyperlipidemia Also used in drug eluting stents NOT nephrotoxic IL-12 Receptor Deficiency
IL-12 Secreted by Macrophages Decreased Th1 Response Decreased IFN Gamma Mycobacterial Infections Salmonella Chronic Mucocutaneous Candidiasis
T Cell Dysfunction Candida Albicans Infections of Skin Infections of Mucous Membrane Susceptible to HPV Infections like Condyloma Acuminatum Ataxia Telangiectasia
Autosomal Recessive ATM Gene Defect in DNA repair Cerebellar defects Spider Angiomas Sensitive to Radiation Defective Tumor Suppressor Gene Increased risk of Cancer, Leukemias, and Lymphomas Increased AFP levels IgA deficiency Repeated sinopulmonary infections Wiskott Aldrich
X-linked Recessive WASp Protein Mutation Antigen Presentation Defect Progressive Deletion of B and T Cells Thrombocytopenia Eczema Infections Decreased IgM Increased IgE, IgA Hyper IgM Syndrome
Deficient CD40 Ligand on Helper T-cells Defective CD40 Receptor on B-cells Inability to Class Switch Pyogenic Abscess Decreased IgG, IgA, IgE 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 Chediak-Higashi Syndrome
Autosomal Recessive Defective Lysosomal Trafficking Regulator Gene (LYST) Defect In Microtubular Function Decrease In Phagocytosis Recurrent Pyogenic Infections Staph Aureus And Streptococci Partial Albinism Peripheral Neuropathy Pancytopenia Giant Granules In Granulocytes And Platelets View More
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