Bryan Shared "4/30 week" - 56 Picmonics
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4/30 week
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
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
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
Fabry's Disease
- Pathophysiology
- X-linked Recessive
- Alpha-galactosidase A Deficiency
- Increased Ceramide trihexoside
- Early Signs and Symptoms
- Decreased Sweating (Hypohidrosis)
- Angiokeratoma
- Episodic Peripheral Neuropathy
- Late Signs and Symptoms
- Cardiovascular Disease
- Renal Failure
1 min
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
G6PD Deficiency
- X-linked Recessive
- Hemolytic Anemia
- Inflammatory Response
- Fava Beans
- Sulfonamides
- Primaquine
- Anti TB Drugs
- Heinz Bodies
- Bite Cells
- Prevalent Among African Americans due to Increased Malarial Resistance
2 mins
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
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
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
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
Salmonella Typhi
- Characteristics
- Colonizes Gallbladder
- Monocytic Immune Response
- Symptoms
- Typhoid Fever
- Abdominal Pain
- Rose Spots on Abdomen
- Constipation Followed by Diarrhea
- Treatments
- Ceftriaxone
- Fluoroquinolones
- Considerations
- Oral Vaccine - Live
- IM Vaccine - Capsular Polysaccharide
2 mins
Orotic Aciduria
- Pathophysiology
- Autosomal Recessive
- Defect in UMP Synthase
- De Novo Pyrimidine Synthesis Pathway
- Symptoms
- Increased Orotic Acid in Urine
- Megaloblastic Anemia
- No Response to B12 or Folate
- Non-Hyperammonemic
- Failure to Thrive
- Treatment
- Oral Uridine Monophosphate
2 mins
Ornithine Transcarbamylase Deficiency
- Pathophysiology
- Most Common Urea Cycle Disorder
- X-Linked Recessive
- Signs and Symptoms
- Hyperammonemia
- Decreased BUN
- Carbamoyl Phosphate is Converted to Orotic Acid
- Pyrimidine Synthesis Pathway
- Evident in Babies
3 mins
Parvovirus B19
- Characteristics
- DNA
- Single Stranded
- Linear
- Smallest DNA virus
- Non-enveloped
- Signs and Symptoms
- 5th Disease
- Slapped Cheek Rash in Children
- Erythema Infectiosum
- Hydrops Fetalis
- RBC aplasia
- Arthritis in Adults
- Aplastic Crisis in Sickle Cell
- Myocarditis
2 mins
Erythema Infectiosum (Fifths Disease)
- Mechanism
- Human Parvovirus B19
- Signs and Symptoms
- Cold-like Symptoms
- Three Stage Rash
- Slapped Face
- Maculopapular Red Spots on Trunk
- Rash Reappears
- Considerations
- Aplastic Crisis
- Joint Pain and Swelling
2 mins
Cytomegalovirus (CMV)
- Characteristics
- Enveloped
- Double Stranded DNA
- Herpesvirus 5
- Diagnosis
- Non Heterophile Antibodies
- Owl's eye inclusions
- Signs and Symptoms
- Congenital TORCH infection
- Mononucleosis
- Pneumonia
- AIDS retinitis and esophagitis
- Infection in transplant recipients
2 mins
Pox Virus
- Characteristics
- Enveloped
- Double-Stranded DNA
- Linear
- Non-Icosahedral
- Signs and Symptoms
- Smallpox
- Cowpox
- Molluscum Contagiosum
- Umbilicated Flesh-Colored Domed Lesions
1 min
Roseola
- Exanthem
- Herpesvirus 6
- Enveloped
- Double Stranded DNA
- Linear
- Signs and Symptoms
- High Fevers Can Lead to Seizures
- Diffuse Macular Rash After Fever
1 min
Varicella Zoster Virus (VZV)
- Herpesvirus 3
- Characteristics
- Enveloped
- Double Stranded DNA
- Signs and Symptoms
- Chickenpox
- Pneumonia
- Encephalitis
- Trigeminal and Dorsal Root Ganglia
- Shingles
- Diagnosis
- Tzanck Test
- Multinucleated Giant Cells
- Cowdry A Inclusion
- Treatment
- Acyclovir
2 mins
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