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Dermatology
Primary Immunodeficiencies
Built from Dermatology, 5th Edition
What’s inside
8 sections · 117 slides
Overview
- What this topic covers
Introduction
What a primary immunodeficiency is, and why the skin often gives the first clue
- What is a primary immunodeficiency?
- When to suspect a primary immunodeficiency
- Primary immunodeficiencies: classification from the International Union of Immunological Societies Expert Committee and disorders discussed in other chapters. (1 of 2)
- Primary immunodeficiencies: classification from the International Union of Immunological Societies Expert Committee and disorders discussed in other chapters. (2 of 2)
- Primary immunodeficiencies: classification from the International Union of Immunological Societies Expert Committee and disorders discussed in other chapters. (2 of 2) (continued)
- Primary immunodeficiencies: classification from the International Union of Immunological Societies Expert Committee and disorders discussed in other chapters. (2 of 2) (continued)
- Cutaneous findings in primary immunodeficiency disorders. (1 of 2)
- Cutaneous findings in primary immunodeficiency disorders. (1 of 2) (continued)
- Cutaneous findings in primary immunodeficiency disorders. (2 of 2)
- Cutaneous findings in primary immunodeficiency disorders. (2 of 2) (continued)
- Screening laboratory tests to assess for a primary immunodeficiency in a patient with recurrent cutaneous infections. (1 of 2)
- Screening laboratory tests to assess for a primary immunodeficiency in a patient with recurrent cutaneous infections. (2 of 2)
- Screening laboratory tests to assess for a primary immunodeficiency in a patient with recurrent cutaneous infections. (2 of 2) (continued)
Ataxia-Telangiectasia
Progressive ataxia, ocular telangiectasias, and combined immunodeficiency from a DNA-repair gene defect
- Ataxia-telangiectasia: key features
- Epidemiology of ataxia-telangiectasia
- The ATM gene: a DNA-damage alarm
- From DNA damage to ATM activation
- Why one gene explains so many features
- Related DNA-repair gene disorders
- Ocular, facial, and cutaneous telangiectasias in ataxia-telangiectasia
- Ocular telangiectasias: the classic sign
- Progeric skin and hair changes
- Other skin findings and neurologic course
- Systemic manifestations
- Malignancy risk
- Laboratory findings
- Diagnostic clues and confirmation
- Differential diagnosis
- Treatment: supportive care
- Treatment: special precautions
Chronic Mucocutaneous Candidiasis
Recurrent Candida infections of skin, nails, and mucosa from an impaired IL-17 immune response
- Chronic mucocutaneous candidiasis: key features
- Why IL-17 matters for Candida defense
- Epidemiology of CMC
- Disruption of IL-17 immunity in CMC
- APECED: autoimmunity from a thymus defect
- STAT1 gain-of-function: the most common cause
- Other IL-17 pathway gene defects
- Variants of chronic mucocutaneous candidiasis (CMC) in children and adolescents.
- Variants of chronic mucocutaneous candidiasis (CMC) in children and adolescents. (continued)
- Variants of chronic mucocutaneous candidiasis (CMC) in children and adolescents. (continued)
- Mechanisms behind chronic mucocutaneous candidiasis
- Clinical spectrum of CMC
- Oral thrush and dermatophyte infections with increased STAT1 signaling
- Nail, palm, and intravenous-site candidiasis
- Beyond Candida: other infections and lab clues
- Differential diagnosis of CMC
- Inherited disorders characterized by lymphoproliferation due to immune dysregulation. (1 of 3)
- Inherited disorders characterized by lymphoproliferation due to immune dysregulation. (1 of 3) (continued)
- Inherited disorders characterized by lymphoproliferation due to immune dysregulation. (1 of 3) (continued)
- Inherited disorders characterized by lymphoproliferation due to immune dysregulation. (2 of 3)
- Inherited disorders characterized by lymphoproliferation due to immune dysregulation. (2 of 3) (continued)
- Inherited disorders characterized by lymphoproliferation due to immune dysregulation. (2 of 3) (continued)
- Inherited disorders characterized by lymphoproliferation due to immune dysregulation. (3 of 3)
- Inherited disorders characterized by lymphoproliferation due to immune dysregulation. (3 of 3) (continued)
- Inherited disorders characterized by lymphoproliferation due to immune dysregulation. (3 of 3) (continued)
- Inherited disorders characterized by lymphoproliferation due to immune dysregulation. (3 of 3) (continued)
- Inherited disorders characterized by lymphoproliferation due to immune dysregulation. (3 of 3) (continued)
- Inherited disorders characterized by lymphoproliferation due to immune dysregulation. (3 of 3) (continued)
- Treatment of chronic mucocutaneous candidiasis
- Monitoring for CMC
Cartilage-Hair Hypoplasia Syndrome
A skeletal dysplasia with fine hypopigmented hair and variable immunodeficiency
- Cartilage-hair hypoplasia: key features
- Cause and epidemiology
- Clinical features
- Immune and other manifestations
- Treatment
Chédiak-Higashi Syndrome
A vesicle-trafficking disorder causing giant granules, silvery hair, and infection risk
- Chédiak-Higashi syndrome: key features
- Epidemiology of Chédiak-Higashi syndrome
- LYST and vesicle trafficking
- Genotype and consequences
- Chain from LYST mutation to disease
- Pigment and eye findings
- Infections and bleeding tendency
- The accelerated phase
- Neurologic course and diagnostic pathology
- Hair shaft microscopy in Chédiak-Higashi syndrome
- Features of Chédiak–Higashi syndrome (CHS) and Griscelli syndrome (GS).
- Features of Chédiak–Higashi syndrome (CHS) and Griscelli syndrome (GS). (continued)
- Other differential diagnoses
- Treatment of Chédiak-Higashi syndrome
Complement Disorders
Deficiencies in the innate-immune protein cascade that raise infection and autoimmune risk
- Complement disorders: key features
- What the complement system does
- The three complement activation pathways and their effects
- Complement split products and complexes
- Epidemiology of complement deficiencies
- Early pathway defects and lupus risk
- Why complement loss can cause lupus
- Complement disorders.
- Complement disorders. (continued)
- Complement disorders. (continued)
- Infection risk pattern by pathway
- Clinical features: SLE risk by deficiency
- Features of systemic lupus erythematosus (SLE) in C2 deficiency.
- Mannose-binding lectin deficiency
- Diagnosis of complement disorders
- Differential diagnosis
- Treatment of complement disorders
Chronic Granulomatous Disease
Failure of the neutrophil oxidative burst leads to recurrent infection and granuloma formation
- Chronic granulomatous disease: key features
- Epidemiology of chronic granulomatous disease
- NADPH oxidase: the phagocyte's bleach-maker
- Subunits of the NADPH oxidase complex
- Genetic defects affecting components of the phagocyte NADPH oxidase. (1 of 3)
- Genetic defects affecting components of the phagocyte NADPH oxidase. (2 of 3)
- Genetic defects affecting components of the phagocyte NADPH oxidase. (3 of 3)
- From phagocytosis to microbial killing (and its failure in CGD)
- Beyond killing: reactive oxygen species also limit inflammation
- Clinical pattern of chronic granulomatous disease
- Organisms that cause infections in patients with chronic granulomatous disease. (1 of 2)
- Organisms that cause infections in patients with chronic granulomatous disease. (2 of 2)
- Early skin disease in CGD
- Abscesses and non-infectious skin lesions
- Additional cutaneous manifestations
- Findings in female carriers
- Six disorders, one theme: skin as an early clue
- Clinical pearls for spotting a primary immunodeficiency
- A note on this deck's source material
- Dermatology, 5th Edition (2-Volume Set)