Primary immunodeficiency update : Part I. Syndromes associated with eczematous dermatitis - 17/08/15

Doi : 10.1016/j.jaad.2015.01.054

Dominique C. Pichard, MD ^a, Alexandra F. Freeman, MD ^b, Edward W. Cowen, MD, MHSc ^a,^⁎
^a National Institutes of Health, National Cancer Institute, Bethesda, Maryland
^b National Institute of Allergy and Infectious Disease, Bethesda, Maryland

^∗Correspondence to: Edward W. Cowen, MD, MHSc, Senior Clinician and Head Dermatology Consultation Service, Dermatology Branch, National Cancer Institutes, National Institutes of Health, 10 Center Dr, Bethesda, MD 20892.

Abstract

In the past decade, the availability of powerful molecular techniques has accelerated the pace of discovery of several new primary immunodeficiencies (PIDs) and revealed the biologic basis of other established PIDs. These genetic advances, in turn, have facilitated more precise phenotyping of associated skin and systemic manifestations and provide a unique opportunity to better understand the complex human immunologic response. These continuing medical education articles will provide an update of recent advances in PIDs that may be encountered by dermatologists through their association with eczematous dermatitis, infectious, and non-infectious cutaneous manifestations. Part I will discuss new primary immunodeficiencies that have an eczematous dermatitis. Part II will focus on primary immunodeficiencies that greatly increase susceptibility to fungal infection and the noninfectious presentations of PIDs.

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Abbreviations used : AD, AD-HIES, AR, BMD, CMC, DOCK8, EBV, FOXP3, HIES, HPV, HSCT, HSV, IDDM, IFN, IL, IPEX, MCV, MMP, MST1, NK, PGM3, PID, STAT3, STK4, Treg, TLR, TYK2, VZV, WAS

Plan

Hyperimmunoglobulin E syndromes

Autosomal dominant hyperimmunoglobulin E syndrome

DOCK8 deficiency

Phosphoglucomutase 3 deficiency

Immune dysregulation, polyendocrinopathy, and enteropathy, X-linked syndrome

Mammalian sterile 20-like kinase 1 deficiency

	Supported by the Intramural Research Program of the National Institutes of Health, Center for Cancer Research, National Cancer Institute.
	Conflicts of interest: None declared.
	Date of release: September 2015
	Expiration date: September 2018