Life-Saving, Dose-Adjusted, Targeted Therapy in a Patient with a STAT3 Gain-of-Function Mutation

Eytan Sarfati; Jérome Hadjadj; Mathieu Fusaro; Roman Klifa; Marion Grimaud; Laureline Berteloot; Alice Hadchouel; Cécile Godot; Marie-Claude Stolzenberg; Marie-Louise Frémond; Claire Pressiat; Thierry Molina; Alain Fischer; Capucine Picard; Sylvain Renolleau; Frederic Rieux-Laucat; Stephane Blanche; Benedicte Neven

doi:10.1007/s10875-020-00914-3

Life-Saving, Dose-Adjusted, Targeted Therapy in a Patient with a STAT3 Gain-of-Function Mutation

J Clin Immunol. 2021 May;41(4):807-810. doi: 10.1007/s10875-020-00914-3. Epub 2021 Jan 11.

Authors

Eytan Sarfati^#¹, Jérome Hadjadj^#^{2

3}, Mathieu Fusaro^{2

4}, Roman Klifa^{1

2}, Marion Grimaud⁵, Laureline Berteloot⁶, Alice Hadchouel^{2

7}, Cécile Godot⁸, Marie-Claude Stolzenberg³, Marie-Louise Frémond^{2

9}, Claire Pressiat¹⁰, Thierry Molina^{2

11}, Alain Fischer^{1

2

12}, Capucine Picard^{1

2

4}, Sylvain Renolleau^{2

5}, Frederic Rieux-Laucat³, Stephane Blanche^{1

2}, Benedicte Neven^{13

14

15}

Affiliations

¹ Pediatric Immunohematology and Rheumatology Department, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), 149 rue de Sèvres, F-75015, Paris, France.
² University of Paris, Paris, France.
³ Laboratory of immunogenetics of pediatric autoimmune disease, Institut Imagine, INSERM UMR1163, Paris, France.
⁴ Study Center for Primary Immunodeficiencies, Necker-Enfants Malades, AP-HP centre, Paris, France.
⁵ Pediatric Intensive Care Unit, Necker-Enfants-Malades University Hospital, AP-HP centre, Paris, France.
⁶ Pediatric Radiology Unit, Hôpital Necker-Enfants Malades, AP-HP Centre, Paris, France.
⁷ Pediatric Pneumology Unit, Hôpital Necker-Enfants Malades, AP-HP Centre, Paris, France.
⁸ Pediatric Endocrinology Unit, Hôpital Necker-Enfants Malades, AP-HP Centre, Paris, France.
⁹ Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, INSERM UMR1163, Paris, France.
¹⁰ Department of Pharmacology, Hôpital Henri Mondor, AP-HP, Paris, France.
¹¹ Department of Pathology, Hôpital Necker-Enfants Malades, AP-HP Centre, Paris, France.
¹² Collège de France, Paris, France.
¹³ Pediatric Immunohematology and Rheumatology Department, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), 149 rue de Sèvres, F-75015, Paris, France. [email protected].
¹⁴ University of Paris, Paris, France. [email protected].
¹⁵ Laboratory of immunogenetics of pediatric autoimmune disease, Institut Imagine, INSERM UMR1163, Paris, France. [email protected].

^# Contributed equally.

PMID: 33428086
DOI: 10.1007/s10875-020-00914-3

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Alleles
Disease Management
Gain of Function Mutation*
Genetic Association Studies
Genetic Predisposition to Disease*
Genotype
Germ-Line Mutation
Humans
Immune System Diseases / diagnosis
Immune System Diseases / drug therapy*
Immune System Diseases / etiology*
Janus Kinase Inhibitors / administration & dosage
Janus Kinase Inhibitors / adverse effects
Janus Kinase Inhibitors / therapeutic use
Molecular Targeted Therapy* / methods
Phenotype
STAT3 Transcription Factor / genetics*
Tomography, X-Ray Computed
Treatment Outcome

Substances

Janus Kinase Inhibitors
STAT3 Transcription Factor
STAT3 protein, human