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Immunodeficiency Disorders

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Pathology | Medicine (MD/DO) School Study Aid

Immunodeficiency Disorders
25 Picmonics to Learn | 1 hr 0 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
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2 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
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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
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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
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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
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2 mins
IL-12 Receptor Deficiency
Pathophysiology
IL-12 Secreted by Macrophages
Decreased Th1 Response
Decreased IFN Gamma
Signs and Symptoms
Mycobacterial Infections
Salmonella
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1 min
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
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42 secs
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
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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
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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
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4 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
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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
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3 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
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2 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
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2 mins
Human Immunodeficiency Virus (HIV) Assessment
Assessment
RNA Retrovirus
CD4+ Helper T Cells
Primary Infection
Flu-like Symptoms
Lymphadenopathy
Symptomatic Stage
Fatigue
Diarrhea
Unexplained Weight Loss
White Spots on Tongue
Persistent Fever
Night Sweats
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2 mins
Human Immunodeficiency Virus (HIV) Diagnosis
HIV-1/2 Antigen/Antibody Immunoassay
HIV-1/2 Antibody Differentiation Immunoassay
Nucleic Acid Testing (NAT)
Viral Load
Polymerase Chain Reaction (PCR) in Neonates
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3 mins
Human Immunodeficiency Virus (HIV) Stages
Primary Infection
Within 3 Weeks
Flu-like Symptoms
Asymptomatic Stage
Years
Symptomatic Stage
CD4+ < 500
AIDS
Opportunistic Infections
CD4+ < 200
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2 mins
Human Immunodeficiency Virus (HIV) Interventions
Interventions
Adequate Nutrition
Small Frequent Meals
IV Hydration
Emotional Support
HIV Medications
HAART
Considerations
Transmission Education
Strict Asepsis for Invasive Procedures
Treat Opportunistic Infections
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2 mins
HIV Prophylaxis Medications
CD4+ < 200
TMP-SMX
Pneumocystis Pneumonia
CD4+ < 100 Susceptible to Toxoplasma Gondii
CD4+ < 50
Mycobacterium Avium and Intracellulare
Azithromycin If Delayed Therapy
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2 mins
HIV CD4+ 500
Signs and Symptoms
Candida albicans (Oral Thrush)
Kaposi's Sarcoma (HHV-8)
Human Papillomavirus (HPV)
Epstein-Barr Virus (Oral Hairy Leukoplakia)
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3 mins
HIV CD4+ 200
Signs and Symptoms
Herpes Simplex Virus (HSV)
JC Virus
Progressive Multifocal Leukoencephalopathy (PML)
Pneumocystis Pneumonia
(HIV) Dementia
Histoplasmosis
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3 mins
HIV CD4+ 100
Signs and Symptoms
Aspergillus fumigatus
Cryptococcus neoformans
Candida albicans (Esophagitis)
Mycobacterium avium complex (MAC)
Cytomegalovirus (CMV)
Epstein-Barr virus (EBV) B-cell lymphoma
Toxoplasma gondii
Cryptosporidium
Bartonella henselae
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5 mins
Complement Disorders
Early Complement Deficiency
Pyogenic Infections
SLE
Sinus Infections
Terminal Complement Deficiency
Autosomal Recessive
Neisseria Infections
C5-C9
MAC (Membrane Attack Complex)
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4 mins
C1 Esterase Inhibitor Deficiency
Pathophysiology
Autosomal Dominant
Disinhibition of Kallikrein
Increased Bradykinin
Decreased C4
Clinical Features
Recurrent Angioedema
Upper Airway Obstruction
Considerations
ACE Inhibitors Contraindicated
Avoid Triggers
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3 mins
Kaposi Sarcoma
Characteristics
Malignant Vascular Tumor
Human Herpesvirus Type 8 (HHV-8)
AIDS/Immunocompromised
CD4+ < 500
Presentation
Multifocal Purple Lesions
Skin
Mucous Membranes
Visceral Organs
Diagnosis
Spindle-shaped Cells
Management
Observation
Chemotherapy
Treat Underlying Disorder
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3 mins

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