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 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 Sjögren’s Syndrome
Autoimmune Exocrine Gland Destruction Xerostomia Xerophthalmia Arthritis Anti SS-B (La) Anti SS-A (Ro) Schirmer's Test Salivary Gland Biopsy Symptomatic Treatment Lymphoma Sicca Syndrome Systemic Lupus Erythematosus (SLE) Diagnosis and Clinical Features
IM DAMN SHARP acronym Immunoglobulins Malar rash Discoid rash Antinuclear antibody Mucositis Neurologic disorders Serositis Hematologic disorders Arthritis Renal disorders Photosensitivity Systemic Lupus Erythematosus (SLE) Mechanism, Treatment and Complications
Systemic Autoimmune Disease 9:1 female to male ratio Glucocorticoids NSAIDS Hydroxychloroquine Cyclophosphamide Lupus nephritis Libman-Sacks Endocarditis Secondary Antiphospholipid Antibody Syndrome Drug-induced lupus Myasthenia Gravis
Antibodies to Acetylcholine Receptor Ptosis Diplopia Weakness with Muscle Use Respiratory Death Thymus Associated Acetylcholinesterase Inhibitors Plasmapheresis Thymectomy 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 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 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 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 Common Variable Immunodeficiency
Defect in B Cell Maturation Decreased Plasma Cells Decreased Immunoglobulins Sinopulmonary Infections Increased Risk of Autoimmune Disease Lymphoma 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 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 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 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 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
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