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CARMIL2-related immunodeficiency manifesting with photosensitivity.
Shayegan, Leila H; Garzon, Maria C; Morel, Kimberly D; Borlack, Rachel; Vuguin, Patricia M; Margolis, Kara G; Demirdag, Yesim Y; Pereira, Elaine M; Lauren, Christine T.
Afiliação
  • Shayegan LH; Vagelos College of Physicians and Surgeons, Columbia University, New York, New York.
  • Garzon MC; Departments of Dermatology and Pediatrics, Columbia University Irving Medical Center, New York, New York.
  • Morel KD; Departments of Dermatology and Pediatrics, Columbia University Irving Medical Center, New York, New York.
  • Borlack R; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.
  • Vuguin PM; Division of Pediatric Endocrinology, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.
  • Margolis KG; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.
  • Demirdag YY; Division of Pediatric Allergy and Immunology, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.
  • Pereira EM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.
  • Lauren CT; Departments of Dermatology and Pediatrics, Columbia University Irving Medical Center, New York, New York.
Pediatr Dermatol ; 37(4): 695-697, 2020 Jul.
Article em En | MEDLINE | ID: mdl-32342551
ABSTRACT
We report a case of a newly recognized primary immunodeficiency due to biallelic mutations in CARMIL2 manifesting as an actinic prurigo-like photodermatitis, allergic diathesis and recurrent infections in a child. We present this case to highlight a rare phenotype seen in this T-cell immunodeficiency and provide an overview of other dermatologic manifestations among published reports of this condition.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos de Fotossensibilidade / Prurigo / Dermatopatias Genéticas / Síndromes de Imunodeficiência Tipo de estudo: Diagnostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos de Fotossensibilidade / Prurigo / Dermatopatias Genéticas / Síndromes de Imunodeficiência Tipo de estudo: Diagnostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article