CARMIL2-related immunodeficiency manifesting with photosensitivity

Leila H. Shayegan; Maria C. Garzon; Kimberly D. Morel; Rachel Borlack; Patricia M. Vuguin; Kara G. Margolis; Yesim Y. Demirdag; Elaine M. Pereira; Christine T. Lauren

doi:10.1111/pde.14173

CARMIL2-related immunodeficiency manifesting with photosensitivity

Leila H. Shayegan, Maria C. Garzon, Kimberly D. Morel, Rachel Borlack, Patricia M. Vuguin, Kara G. Margolis, Yesim Y. Demirdag, Elaine M. Pereira, Christine T. Lauren

Molecular Pathobiology

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Pages (from-to)	695-697
Number of pages	3
Journal	Pediatric Dermatology
Volume	37
Issue number	4
DOIs	https://doi.org/10.1111/pde.14173
State	Published - Jul 1 2020

Keywords

eczema
genodermatoses
immunodeficiency

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Dermatology

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10.1111/pde.14173

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@article{e96e6d029d544cbbb8fbdf4acdd4bd45,

title = "CARMIL2-related immunodeficiency manifesting with photosensitivity",

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.",

keywords = "eczema, genodermatoses, immunodeficiency",

author = "Shayegan, {Leila H.} and Garzon, {Maria C.} and Morel, {Kimberly D.} and Rachel Borlack and Vuguin, {Patricia M.} and Margolis, {Kara G.} and Demirdag, {Yesim Y.} and Pereira, {Elaine M.} and Lauren, {Christine T.}",

note = "Publisher Copyright: {\textcopyright} 2020 Wiley Periodicals, LLC.",

year = "2020",

month = jul,

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doi = "10.1111/pde.14173",

language = "English (US)",

volume = "37",

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T1 - CARMIL2-related immunodeficiency manifesting with photosensitivity

AU - Shayegan, Leila H.

AU - Garzon, Maria C.

AU - Morel, Kimberly D.

AU - Borlack, Rachel

AU - Vuguin, Patricia M.

AU - Margolis, Kara G.

AU - Demirdag, Yesim Y.

AU - Pereira, Elaine M.

AU - Lauren, Christine T.

PY - 2020/7/1

Y1 - 2020/7/1

N2 - 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.

AB - 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.

KW - eczema

KW - genodermatoses

KW - immunodeficiency

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UR - http://www.scopus.com/inward/citedby.url?scp=85084149684&partnerID=8YFLogxK

U2 - 10.1111/pde.14173

DO - 10.1111/pde.14173

M3 - Article

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AN - SCOPUS:85084149684

SN - 0736-8046

VL - 37

SP - 695

EP - 697

JO - Pediatric Dermatology

JF - Pediatric Dermatology

IS - 4

ER -

CARMIL2-related immunodeficiency manifesting with photosensitivity

Abstract

Keywords

ASJC Scopus subject areas

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