John Shared "Primary Immunodeficiencies" - 14 Picmonics
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Primary Immunodeficiencies
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
Hyper IgM Syndrome
- Pathophysiology
- Deficient CD40 Ligand on Helper T-cells
- Defective CD40 Receptor on B-cells
- Inability to Class Switch
- Signs and Symptoms
- Pyogenic Abscess
- Decreased IgG, IgA, IgE
4 mins
Common Variable Immunodeficiency
- Pathophysiology
- Defect in B Cell Maturation
- Decreased Plasma Cells
- Decreased Immunoglobulins
- Signs & Symptoms
- Sinopulmonary Infections
- Increased Risk of Autoimmune Disease
- Lymphoma
1 min
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
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
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
2 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
Ataxia Telangiectasia
- Pathophysiology
- Autosomal Recessive
- ATM Gene
- Defect in DNA repair
- Signs & Symptoms
- 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
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
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
Chediak-Higashi Syndrome
- Pathophysiology
- Autosomal Recessive
- Defective Lysosomal Trafficking Regulator Gene (LYST)
- Defect In Microtubular Function
- Decrease In Phagocytosis
- Signs And Symptoms
- Recurrent Pyogenic Infections
- Staph Aureus And Streptococci
- Partial Albinism
- Peripheral Neuropathy
- Pancytopenia
- Diagnosis
- Giant Granules In Granulocytes And Platelets
2 mins
IL-12 Receptor Deficiency
- Pathophysiology
- IL-12 Secreted by Macrophages
- Decreased Th1 Response
- Decreased IFN Gamma
- Signs and Symptoms
- Mycobacterial Infections
- Salmonella
1 min
Hyper IgE Syndrome
- Job Syndrome (Autosomal Dominant Hyper IgE Syndrome)
- Pathophysiology
- Autosomal Dominant
- STAT3 Mutation
- Increased IgE
- Abnormal Chemotaxis
- Signs and Symptoms
- Leonine Facies
- Cold (Non-Inflamed) Staph Aureus Abscesses
- Retained Primary Teeth
- Eczema
- Management
- Prophylactic Antibiotics
2 mins
Chronic Mucocutaneous Candidiasis
- Mechanism and Characteristics
- T Cell Dysfunction
- Candida Albicans
- Signs and Symptoms
- Infections of Skin
- Infections of Mucous Membrane
- Susceptible to HPV Infections like Condyloma Acuminatum
42 secs
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