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The Journal of Clinical Investigation
|
November 29, 2016
Biallelic mutations in IRF8 impair human NK cell maturation and function
Emily M Mace, Venetia Bigley, Justin T Gunesch, et al.
The Journal of Experimental Medicine
|
May 6, 2024
Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Michael E Horesh, Marta Martin-Fernandez, Conor Gruber, et al.
The Journal of Experimental Medicine
|
April 2, 2024
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Michael E Horesh, Marta Martin-Fernandez, Conor Gruber, et al.
Blood
|
April 11, 2018
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
Ivan K Chinn, Olive S Eckstein, Erin C Peckham-Gregory, et al.
Science (New York, N.Y.)
|
July 11, 2020
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease
Sarah A Cook, William A Comrie, M Cecilia Poli, et al.
The Journal of Experimental Medicine
|
May 5, 2021
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients
Carole Le Coz, David N Nguyen, Chun Su, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 10, 2026
<i>PTPN1</i> -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance
Daniel G Calame, Emma K Wiener, Francesco Gavazzi, et al.
The Journal of Clinical Investigation
|
November 13, 2019
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease
Juan C Ravell, Mami Matsuda-Lennikov, Samuel D Chauvin, et al.
The Journal of Allergy and Clinical Immunology
|
September 1, 2018
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease
Batsukh Dorjbal, Jeffrey R Stinson, Chi A Ma, et al.
The Journal of Experimental Medicine
|
October 12, 2019
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
Michael T Lam, Simona Coppola, Oliver H F Krumbach, et al.
Page
of 14
Search research articles
Search
Showing results (121-130 of 135) with videos related to
Sort By:
Page
of 14
The Journal of Clinical Investigation
|
November 29, 2016
Biallelic mutations in IRF8 impair human NK cell maturation and function
Emily M Mace, Venetia Bigley, Justin T Gunesch, et al.
The Journal of Experimental Medicine
|
May 6, 2024
Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Michael E Horesh, Marta Martin-Fernandez, Conor Gruber, et al.
The Journal of Experimental Medicine
|
April 2, 2024
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Michael E Horesh, Marta Martin-Fernandez, Conor Gruber, et al.
Blood
|
April 11, 2018
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
Ivan K Chinn, Olive S Eckstein, Erin C Peckham-Gregory, et al.
Science (New York, N.Y.)
|
July 11, 2020
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease
Sarah A Cook, William A Comrie, M Cecilia Poli, et al.
The Journal of Experimental Medicine
|
May 5, 2021
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients
Carole Le Coz, David N Nguyen, Chun Su, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 10, 2026
<i>PTPN1</i> -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance
Daniel G Calame, Emma K Wiener, Francesco Gavazzi, et al.
The Journal of Clinical Investigation
|
November 13, 2019
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease
Juan C Ravell, Mami Matsuda-Lennikov, Samuel D Chauvin, et al.
The Journal of Allergy and Clinical Immunology
|
September 1, 2018
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease
Batsukh Dorjbal, Jeffrey R Stinson, Chi A Ma, et al.
The Journal of Experimental Medicine
|
October 12, 2019
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
Michael T Lam, Simona Coppola, Oliver H F Krumbach, et al.
Page
of 14