Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiency

STAT1 Consortium

doi:10.70962/jhi.20250015

Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiency

STAT1 Consortium

Biotecnología

Instituto Mexicano del Seguro Social
Hiroshima University
UMAE 25
Université Paris Cité
Paris Cité University
Rockefeller University
Instituto Nacional de Pediatria

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

Abstract

A heterozygous STAT1 mutation (K410E) was identified in a child with disseminated coccidioidomycosis. This report highlights the critical role of IFN-γ–mediated immunity in controlling fungal infections and expands the known phenotypic spectrum of autosomal dominant STAT1 deficiency.

Original language	English
Article number	e20250015
Journal	Journal of Human Immunity
Volume	1
Issue number	3
DOIs	https://doi.org/10.70962/jhi.20250015
State	Published - 1 Sep 2025

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10.70962/jhi.20250015

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title = "Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiency",

abstract = "A heterozygous STAT1 mutation (K410E) was identified in a child with disseminated coccidioidomycosis. This report highlights the critical role of IFN-γ–mediated immunity in controlling fungal infections and expands the known phenotypic spectrum of autosomal dominant STAT1 deficiency.",

author = "\{STAT1 Consortium\} and Staines-Boone, \{Aid{\'e} Tamara\} and Miyuki Tsumura and Rodr{\'i}guez, \{Adriana de J.\} and Calder{\'o}n, \{Diana Olgu{\'i}n\} and Ruiz, \{Laura Berr{\'o}n\} and Campos, \{Jorge Garc{\'i}a\} and Julieta Marmolejo-Bijnsdorp and Ju{\'a}rez, \{Mar{\'i}a Jim{\'e}nez\} and Flores, \{Carlos Sanchez\} and \{Le Voyer\}, Tom and Padilla, \{Sara Espinosa\} and Jacinta Bustamante and Satoshi Okada and Lizbeth Blancas-Galicia",

note = "Publisher Copyright: {\textcopyright} 2025 Staines-Boone et al.",

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doi = "10.70962/jhi.20250015",

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T1 - Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiency

AU - STAT1 Consortium

AU - Staines-Boone, Aidé Tamara

AU - Tsumura, Miyuki

AU - Rodríguez, Adriana de J.

AU - Calderón, Diana Olguín

AU - Ruiz, Laura Berrón

AU - Campos, Jorge García

AU - Marmolejo-Bijnsdorp, Julieta

AU - Juárez, María Jiménez

AU - Flores, Carlos Sanchez

AU - Le Voyer, Tom

AU - Padilla, Sara Espinosa

AU - Bustamante, Jacinta

AU - Okada, Satoshi

AU - Blancas-Galicia, Lizbeth

PY - 2025/9/1

Y1 - 2025/9/1

N2 - A heterozygous STAT1 mutation (K410E) was identified in a child with disseminated coccidioidomycosis. This report highlights the critical role of IFN-γ–mediated immunity in controlling fungal infections and expands the known phenotypic spectrum of autosomal dominant STAT1 deficiency.

AB - A heterozygous STAT1 mutation (K410E) was identified in a child with disseminated coccidioidomycosis. This report highlights the critical role of IFN-γ–mediated immunity in controlling fungal infections and expands the known phenotypic spectrum of autosomal dominant STAT1 deficiency.

UR - https://www.scopus.com/pages/publications/105039301250

U2 - 10.70962/jhi.20250015

DO - 10.70962/jhi.20250015

M3 - Carta

AN - SCOPUS:105039301250

SN - 3065-8993

VL - 1

JO - Journal of Human Immunity

JF - Journal of Human Immunity

IS - 3

M1 - e20250015

ER -

Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiency

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