Stephan Ehl

Hôpital Necker-Enfants Malades — France

Immunology and Microbiology · Life Sciences

75h-index20.0kcitations365works2.82yr avg
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Research Topics

Immunodeficiency and Autoimmune Disorders(153), Immune Cell Function and Interaction(145), Autoimmune and Inflammatory Disorders Research(81), T-cell and B-cell Immunology(46), Parvovirus B19 Infection Studies(44)

Publications361 total

Natural history of clinical manifestations in activated phosphoinositide 3-kinase δ syndrome (APDS): Time-to-event analyses using the European Society for Immunodeficiencies-APDS registry
Clinical Immunology·2025Open Access
Non-cryopreserved Kx negative packed red cell concentrates to support hematopoietic stem cell transplantation in McLeod contiguous gene deletion syndrome
Journal of Human Immunity·2025Open Access
The novel <i>XIAP</i> Lys396Ter variant alters mitochondrial membrane potential and endoplasmic reticulum intensity in monocytes of two XIAP-deficient patients
Pediatric Hematology and Oncology·2025· 1 cited
Author response for "γδ T Cells and Inborn Errors of Immunity"
2025
γδ T Cells and Inborn Errors of Immunity
European Journal of Immunology·2025· 1 citedOpen Access
Case Report: Activated PI3-kinase-δ syndrome and ovarian malignancies: a case series from the European ESID-APDS registry
Frontiers in Immunology·2025· 1 citedOpen Access
A Novel Description of Immunodeficiency and Immune Dysregulation in a 14-Year-Old Girl with Noonan Syndrome 13
Journal of Clinical Immunology·2025· 2 citedOpen Access
Review for "Mutations in &lt;i&gt;RNU4ATAC&lt;/i&gt; Are Associated With Chilblain‐Like Lesions and Enhanced Type I Interferon Signalling"
2025
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants
Blood·2025· 2 citedOpen Access
Clinical manifestations, disease penetrance, and treatment in individuals with SOCS1 insufficiency: a registry-based and population-based study
The Lancet Rheumatology·2025· 8 citedOpen Access
Aplastic Anemia as a Rare Manifestation of SAP Deficiency
Pediatric Blood & Cancer·2025Open Access
Inborn errors of immunity: manifestation, treatment, and outcome – an ESID registry 1994-2024 report on 30,628 patients
2025· 3 citedOpen Access
Review for "Two New Kindreds with Complete Factor D Deficiency"
2025
SOCS1 deficiency—crossroads of autoimmunity and autoinflammation—two case reports
Frontiers in Pediatrics·2025· 1 citedOpen Access
Review for "Mutations in &lt;i&gt;RNU4ATAC&lt;/i&gt; Are Associated With Chilblain‐Like Lesions and Enhanced Type I Interferon Signalling"
2024
Review for "Two New Kindreds with Complete Factor D Deficiency"
2024
Author response for "γδ T Cells and Inborn Errors of Immunity"
2024
Comparative efficacy of leniolisib (CDZ173) versus standard of care on rates of respiratory tract infection and serum immunoglobulin M (IgM) levels among individuals with activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): an externally controlled study
Clinical & Experimental Immunology·2024· 1 citedOpen Access
The Microbiome Modifies Manifestations of Hemophagocytic Lymphohistiocytosis in Perforin‐Deficient Mice
European Journal of Immunology·2024· 1 citedOpen Access
Immunologische Diagnostik bei Kindern und Jugendlichen
Springer Reference Medizin·2024
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Frequent Co-authors

Carsten Speckmann(13), Bodo Grimbacher(13), Kai Lehmberg(10), Gritta Janka(9), Klaus Schwarz(9), Capucine Pïcard(8), Udo zur Stadt(8), Michael H. Albert(7), Andrea Maul‐Pavicic(7), Anne Rensing‐Ehl(6), Klaus Warnatz(6), Alain Fischer(6), Andrew R. Gennery(6), Steven M. Holland(6), Thomas Vraetz(6), Sebastian Fuchs(6), Tim Niehues(5), Gerhard Kindle(5), Andrew J. Cant(5), Jean‐Laurent Casanova(5)