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TC1
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
Bruton (X-linked) Agammaglobulinemia (DEMO)
X-linked Recessive
Blocks B Cell Maturation
Decreased Immunoglobulins of all Classes
Recurrent Bacterial Infections after 6 Months
1 min
Bruton's Agammaglobulinemia
Pathophysiology
X-linked Recessive
Defective Bruton Tyrosine Kinase
Blocks B Cell Maturation
Signs & Symptoms
Decreased Immunoglobulins of All Classes
Bacterial Infections After Six Months
Maternal IgG Protects Before Six Months
2 mins
Hypersensitivity Type IV
Delayed-Type Hypersensitivity
T Cell Mediated
Antibody Independant
Macrophages Activated
Examples
Transplant Rejection
PPD Skin Test
Contact Dermatitis
1 min
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
2 mins
Systemic Lupus Erythematosus (SLE) Mechanism, Treatment and Complications
Mechanism and Characteristics
Systemic Autoimmune Disease
9:1 female to male ratio
Treatment
Glucocorticoids
NSAIDS
Hydroxychloroquine
Cyclophosphamide
Complications
Lupus nephritis
Libman-Sacks Endocarditis
Secondary Antiphospholipid Antibody Syndrome
Other
Drug-induced lupus
2 mins
Selective IgA Deficiency
Pathophysiology
Defect in Class Switching
Decreased IgA
Signs and Symptoms
Often Asymptomatic
Increase in Atopic & Autoimmune Diseases
Sinopulmonary Infections
Increased Risk Giardia Lamblia Infections
Inflammatory Bowel Disease
Celiac Disease
Considerations
Anaphylaxis From IgA Containing Blood Products
2 mins
Sjögren’s Syndrome
Mechanism
Autoimmune Exocrine Gland Destruction
Symptoms (Classic Triad)
Xerostomia
Xerophthalmia
Arthritis
Diagnosis
Anti SS-B (La)
Anti SS-A (Ro)
Schirmer's Test
Salivary Gland Biopsy
Treatment
Symptomatic Treatment
Complications
Lymphoma
Other
Sicca Syndrome
4 mins
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