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1 . Academic Journal
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency
저자
by
Oda, Hirotsugu
;
Manthiram, Kalpana
;
Chavan, Pallavi Pimpale
;
Rieser, Eva
;
Veli, Önay
, et al.
소스
Nature Immunology
. 25(5):764-777
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7 . Academic Journal
Cancer Prevalence in Children with Inborn Errors of Immunity: Report from a Single Institution
저자
by
Mitchell, María Raquel
;
Urdinez, Luciano
;
Bernasconi, Andrea R.
;
Danielian, Silvia
;
Katsikas, María Martha
, et al.
소스
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases
. 44(6)
Web of Science
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7 . Academic Journal
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
저자
by
Le Voyer, Tom
;
Parent, Audrey V.
;
Liu, Xian
;
Cederholm, Axel
;
Gervais, Adrian
, et al.
소스
Nature: International weekly journal of science
. 623(7988):803-813
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7 . Academic Journal
IKAROS—how many feathers have you lost: mild and severe phenotypes in IKZF1 deficiency
저자
by
Timmy Strauss
;
Julia Körholz
;
Hye Sun Kuehn
;
Agustin A. Gil Silva
;
Franziska Taube
, et al.
소스
Frontiers in Pediatrics, Vol 12 (2024)
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7 . Academic Journal
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling
저자
by
Nunes-Santos, Cristiane J.
;
Kuehn, HyeSun
;
Boast, Brigette
;
Hwang, SuJin
;
Kuhns, Douglas B.
, et al.
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Nature Communications
. 14(1)
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7 . Academic Journal
Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome
저자
by
de Jesus, Adriana A.
;
Chen, Guibin
;
Yang, Dan
;
Brdicka, Tomas
;
Ruth, Natasha M.
, et al.
소스
Nature Communications
. 14(1)
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7 . Academic Journal
Mulibrey nanism and immunological complications: a comprehensive case report and literature review
저자
by
Andrea Gazzin
;
Francesca Pala
;
Marita Bosticardo
;
Julie Niemela
;
Jennifer Stoddard
, et al.
소스
Frontiers in Immunology, Vol 14 (2023)
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7 . Academic Journal
A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome
저자
by
David H. McDermott
;
Daniel Velez
;
Elena Cho
;
Edward W. Cowen
;
John J. DiGiovanna
, et al.
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The Journal of Clinical Investigation, Vol 133, Iss 19 (2023)
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7 . Academic Journal
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling
저자
by
Cristiane J. Nunes-Santos
;
HyeSun Kuehn
;
Brigette Boast
;
SuJin Hwang
;
Douglas B. Kuhns
, et al.
소스
Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)
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7 . Academic Journal
A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation
저자
by
Sacco, Keith
;
Kuehn, Hye Sun
;
Kawai, Tomoki
;
Alsaati, Nouf
;
Smith, Lauren
, et al.
소스
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases
. 43(2):512-520
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