Immunodeficiency Syndromes
Julie V. Schaffer
Division of Pediatric and Adolescent Dermatology, Hackensack University Medical Center, Hackensack, NJ, USA
Search for more papers by this authorMelanie Makhija
Department of Pediatrics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA
Search for more papers by this authorAmy S. Paller
Department of Pediatrics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA
Department of Dermatology, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA
Search for more papers by this authorJulie V. Schaffer
Division of Pediatric and Adolescent Dermatology, Hackensack University Medical Center, Hackensack, NJ, USA
Search for more papers by this authorMelanie Makhija
Department of Pediatrics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA
Search for more papers by this authorAmy S. Paller
Department of Pediatrics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA
Department of Dermatology, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA
Search for more papers by this authorPeter Hoeger
Search for more papers by this authorVeronica Kinsler
Search for more papers by this authorAlbert Yan
Search for more papers by this authorJohn Harper
Search for more papers by this authorArnold Oranje
Search for more papers by this authorChristine Bodemer
Search for more papers by this authorMargarita Larralde
Search for more papers by this authorVibhu Mendiratta
Search for more papers by this authorDiana Purvis
Search for more papers by this authorSummary
Primary immunodeficiencies represent a heterogeneous group of disorders characterized by increased susceptibility to infection and often additional features such as autoimmunity, allergy and malignancy. Mucocutaneous manifestations are often a presenting sign, allowing one to suspect the diagnosis and initiate intervention. Improved understanding of the underlying genetic and molecular basis of many of these forms of immunodeficiency has led to reversal through stem cell transplantation or, in some cases, more targeted therapy.
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