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The first 25 slides, exactly as they appear. The full deck has 131 content slides.
Dermatology
HYPERIMMUNOGLOBULIN E SYNDROMES
Built from Dermatology, 5th Edition
What’s inside
8 sections · 131 slides
Overview
- What this deck covers
Chronic Granulomatous Disease
Background on phagocyte NADPH-oxidase failure, carried over before hyper-IgE syndromes
- What chronic granulomatous disease (CGD) is
- Extracutaneous organ involvement
- Frequency of signs and symptoms in patients with chronic granulomatous disease.
- Frequency of signs and symptoms in patients with chronic granulomatous disease. (continued)
- Cutaneous and pathology findings in CGD
- Chronic granulomatous disease: cutaneous and stomal findings
- Diagnostic testing for CGD
- Other inherited phagocyte and innate-immunity defects
- Fungal infection with gain-of-function STAT1 signaling
- Other inherited defects of phagocytes and innate immunity.
- Other inherited defects of phagocytes and innate immunity. (continued)
- Other inherited defects of phagocytes and innate immunity. (continued)
- Other inherited defects of phagocytes and innate immunity. (continued)
- Other inherited defects of phagocytes and innate immunity. (continued)
- Other inherited defects of phagocytes and innate immunity. (continued)
- Other inherited defects of phagocytes and innate immunity. (continued)
- Other inherited defects of phagocytes and innate immunity. (continued)
- Other inherited defects of phagocytes and innate immunity. (continued)
- GATA2 deficiency / MonoMAC syndrome
- Lymphedema in GATA2 deficiency
- Treating infection in CGD
- Prophylaxis against infection in CGD
- Anti-inflammatory treatment in CGD
- Transplant and gene therapy for CGD
Hyperimmunoglobulin E Syndromes
Job/Buckley syndrome: recurrent infection, infancy-onset dermatitis, and extremely high IgE
- Hyperimmunoglobulin E syndromes: key features
- Discovery of STAT3-HIES
- STAT3 signalling: the normal pathway
- How STAT3 loss causes the HIES picture
- Other genes that disrupt the same pathway
- DOCK8 deficiency: an autosomal recessive HIES
- CADINS and TYK2 deficiency
- STAT3-HIES: infancy presentation
- STAT3-hyperimmunoglobulin E syndrome: cold abscesses and facial coarsening
- STAT3-HIES: the eczema-like rash
- STAT3-HIES: face, bone, and other organs
- STAT3-HIES: infantile rash on biopsy
- Papulovesicular eruption in STAT3-HIES
- DOCK8 deficiency: clinical features
- DOCK8 deficiency: dermatitis, molluscum, and warts
- DOCK8 deficiency: further cutaneous findings
- Herpes simplex ulceration in DOCK8 deficiency
- STAT3-HIES versus DOCK8 deficiency
- HIES: laboratory findings
- Scoring criteria for STAT3-HIES
- Diagnostic guidelines for autosomal dominant hyperimmunoglobulin E syndrome (AD-HIES) due to STAT3 mutations 105 .
- Diagnostic guidelines for autosomal dominant hyperimmunoglobulin E syndrome (AD-HIES) due to STAT3 mutations 105 . (continued)
- HIES: differential diagnosis
- HIES look-alikes and the wart-prone immunodeficiencies
- HIES: treatment
Immunoglobulin Deficiencies
Agammaglobulinemia, common variable immunodeficiency, IgA deficiency, and hyper-IgM syndromes
- Immunoglobulin deficiencies: key features
- How common are these disorders?
- Molecular checkpoints in immunoglobulin deficiency and SCID
- Reading the primary immunoglobulin deficiency table
- Primary immunoglobulin deficiency disorders.
- Primary immunoglobulin deficiency disorders. (continued)
- Primary immunoglobulin deficiency disorders. (continued)
- Primary immunoglobulin deficiency disorders. (continued)
- Primary immunoglobulin deficiency disorders. (continued)
- Primary immunoglobulin deficiency disorders. (continued)
- Primary immunoglobulin deficiency disorders. (continued)
- Primary immunoglobulin deficiency disorders. (continued)
- Agammaglobulinemia: skin clues
- CVID: granulomas and autoimmunity
- Cutaneous granulomas in common variable immunodeficiency
- Hyper-IgM syndromes
- Oral ulceration in hyper-IgM syndrome
- Verrucae in hyper-IgM syndrome
- WHIM syndrome
- Perianal warts in WHIM syndrome
- Transient hypogammaglobulinemia of infancy
- Dermatitis in transient hypogammaglobulinemia of infancy
- Where the antibody pathway breaks
- Treating immunoglobulin deficiency
IPEX Syndrome
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked
- IPEX syndrome: key features
- IPEX syndrome: skin findings
- Conditions that mimic IPEX
Leukocyte Adhesion Deficiency
When white blood cells cannot stick to blood-vessel walls and reach an infection
- Leukocyte adhesion deficiency: key features
- How leukocytes normally reach an infection
- Three types of leukocyte adhesion deficiency
- LAD subtypes: the molecular defect
- LAD: clinical picture
- Chronic ulcer in leukocyte adhesion deficiency type I
- LAD: pathology and look-alikes
- LAD: treatment
Severe Combined Immunodeficiency and Omenn Syndrome
When both antibody and T-cell immunity fail together
- SCID: key features
- SCID: how common, and why
- Types of severe combined immunodeficiency
- SCID: skin clues in infancy
- Omenn syndrome
- Granulomatous plaque in hypomorphic RAG1 deficiency
- The untreated course of SCID
- SCID: laboratory findings
- SCID: differential diagnosis and treatment start
- SCID: stem cell transplant
- SCID: the gene-therapy story
Wiskott–Aldrich Syndrome
Eczema, bleeding, and infection from a single actin-regulating gene
- Wiskott–Aldrich syndrome: key features
- Wiskott–Aldrich syndrome: who gets it
- Wiskott–Aldrich syndrome: the WASP gene
- One gene, five consequences
- WAS: bleeding and dermatitis
- Dermatitis in Wiskott–Aldrich syndrome, before and after transplant
- WAS: infection, autoimmunity, and outlook
- WAS: laboratory findings
- WAS: differential diagnosis
- WAS: treatment
- Two related primary immunodeficiencies pictured here
- Conjunctival telangiectasias in ataxia-telangiectasia
- Alopecia universalis in APECED syndrome
- Putting it together: hallmark clue for each condition
- Shared treatment threads
- References
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- Dermatology, 5th Edition (2-Volume Set)