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Susceptible to HPV Infections like Condyloma Acuminatum
42 secs
Leukocyte Adhesion Deficiency
Pathophysiology
Autosomal Recessive
Integrin CD18 Protein
Defect in LFA-1
Attached to ICAM
Signs and Symptoms
Neutrophilia
Bacterial Infections
Non-Pyogenic
Delayed Separation of Umbilical Cord
2 mins
Chronic Granulomatous Disease
Pathophysiology
Most Commonly X-linked Recessive
Defective NADPH Oxidase (Enzyme Complex)
Decreased Hydrogen Peroxide
Impaired Intracellular Killing in Phagocytes
Signs and Symptoms
Recurrent Purulent Skin and Lung Infections
Catalase Positive Organisms
Diagnosis
Negative Nitroblue Tetrazolium Test
DHR (Dihydrorhodamine) Flow Cytometry
Treatment
Antimicrobial Prophylaxis
TMP-SMX
Itraconazole
Interferon-Gamma
3 mins
Wiskott Aldrich
Pathophysiology
X-linked Recessive
WASp Protein Mutation
Antigen Presentation Defect
Progressive Deletion of B and T Cells
Signs and Symptoms
Thrombocytopenia
Eczema
Infections
Decreased IgM
Increased IgE, IgA
2 mins
Thymic Aplasia (DiGeorge Syndrome)
Pathophysiology
DiGeorge Syndrome
22q11 Deletion
Failure to Develop Third and Fourth Pharyngeal Pouches
Signs and Symptoms
Undeveloped Thymus
T Cell Deficiency
Recurrent Viral and Fungal Infections
Undeveloped Parathyroids
Hypocalcemia
Tetany
Aortic Defects
Congenital Heart Defects
Diagnosis
Absent Thymic Shadow on CXR
2 mins
Transplant Rejection
Hyperacute
Occurs within Minutes
Antibody Mediated Due to Preformed Antidonor Antibodies
Acute
Occurs within Weeks
Cytotoxic T Lymphocytes Cause Cell-mediated or Antibody-mediated Response
Chronic
Occurs Months to Years Later
Antibody and T Cell-mediated Vascular Damage
2 mins
Paroxysmal Nocturnal Hemoglobinuria (PNH)
Pathophysiology
Defective PIG-A Gene
Deficiency of DAF (Decay Accelerating Factor CD55)
Symptoms
Dark Urine in the Morning
Intravascular Hemolysis
Thrombosis
Diagnosis
Decreased CD55 and CD59
Treatment
RBC Transfusion
Eculizumab
Bone Marrow Transplant is Curative
3 mins
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