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Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.

Elodie Bal , Emmanuel Laplantine , Yamina Hamel , Virginie Dubosclard , Bertrand Boisson , et al.
Journal of Allergy and Clinical Immunology, 2017, 17 (4), ⟨10.1016/j.jaci.2016.11.056⟩
Journal articles hal-01560363v1

Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia.

Romain Micol , Samer Kayal , Nizar Mahlaoui , Julien Beauté , Pauline Brosselin , et al.
Journal of Allergy and Clinical Immunology, 2012, 129 (3), pp.770-7. ⟨10.1016/j.jaci.2011.09.047⟩
Journal articles istex hal-00796444v1

Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome

Salima Hacein-Bey Abina , H Bobby Gaspar , Johanna Blondeau , Laure Caccavelli , Sabine Charrier , et al.
Journal of the American Medical Association, 2015, 313 (15), pp.1550-63. ⟨10.1001/jama.2015.3253⟩
Journal articles hal-02880982v1

Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency

Bénédicte Neven , Sandrine Leroy , Hélène Decaluwe , Françoise Le Deist , Capucine Picard , et al.
Blood, 2009, 113 (17), pp.4114-4124. ⟨10.1182/blood-2008-09-177923⟩
Journal articles hal-02868420v1

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

Despina Moshous , Emmanuel Martin , Wassila Carpentier , Annick Lim , Isabelle Callebaut , et al.
Journal of Allergy and Clinical Immunology, 2013, 131 (6), pp.1594-1603.e9. ⟨10.1016/j.jaci.2013.01.042⟩
Journal articles hal-02565338v1

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

Bertrand Boisson , Emmanuel Laplantine , Carolina Prando , Silvia Giliani , Elisabeth Israelsson , et al.
Nature Immunology, 2012, 13 (12), pp.1178-1186. ⟨10.1038/ni.2457⟩
Journal articles pasteur-03277102v1

Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection

Fanny Lanternier , Elisa Barbati , Ulrich Meinzer , Luyan Liu , Vincent Pedergnana , et al.
Journal of Infectious Diseases, 2015, 211 (8), pp.1241-1250. ⟨10.1093/infdis/jiu412⟩
Journal articles hal-02634252v1
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Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies

Carine El Sissy , Jeremie Rosain , Paula Vieira-Martins , Pauline Bordereau , Aurelia Gruber , et al.
Frontiers in Immunology, 2019, 10, pp.1939. ⟨10.3389/Fimmu.2019.01936⟩
Journal articles pasteur-02423490v1

Classic Kaposi Sarcoma in 3 Unrelated Turkish Children Born to Consanguineous Kindreds.

Gürses Sahin , Ayse Palanduz , Gonul Aydogan , Olivier Cassar , A. Ulya Ertem , et al.
Pediatrics, 2010, 125 (3), pp.e704-e708. ⟨10.1542/peds.2009-2224⟩
Journal articles pasteur-00460460v1

Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species–induced meningoencephalitis, colitis, or both

Fanny Lanternier , Seyed Alireza Mahdaviani , Elisa Barbati , Hélène Chaussade , Yatrika Koumar , et al.
Journal of Allergy and Clinical Immunology, 2015, 135 (6), pp.1558 - 1568.e2. ⟨10.1016/j.jaci.2014.12.1930⟩
Journal articles hal-01936359v1

Evidence of innate lymphoid cell redundancy in humans

Frédéric Vély , Vincent Barlogis , Blandine Vallentin , Bénédicte Neven , Christelle Piperoglou , et al.
Nature Immunology, 2016, 17 (11), pp.1291 - 1299. ⟨10.1038/ni.3553⟩
Journal articles pasteur-01392630v1

Imported African Histoplasmosis in an Immunocompetent Patient 40 Years after Staying in a Disease-Endemic Area

Clémence Richaud , Marie-Olivia Chandesris , Fanny Lanternier , Hélène Benzaquen-Forner , Dea Garcia-Hermoso , et al.
American Journal of Tropical Medicine and Hygiene, 2014, 91 (5), pp.1011-1014. ⟨10.4269/ajtmh.13-0731⟩
Journal articles pasteur-02242455v1
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Type I interferon-mediated autoinflammation due to DNase II deficiency

Mathieu Rodéro , Alessandra Tesser , Eva Bartok , Gillian Rice , Erika Della Mina , et al.
Nature Communications, 2017, 8 (1), pp.2176. ⟨10.1038/s41467-017-01932-3⟩
Journal articles pasteur-01768950v1

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

Vivien Beziat , Juan Li , Jian-Xin Lin , Cindy Ma , Peng Li , et al.
Science Immunology, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩
Journal articles hal-02392068v1

Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature

S Leclerc-Mercier , Despina Moshous , Bénédicte Neven , Nizar Mahlaoui , Ludovic Martin , et al.
Journal of the European Academy of Dermatology and Venereology, 2019, 33 (7), pp.1412-1420. ⟨10.1111/jdv.15568⟩
Journal articles hal-02874592v1

Heterozygous RELA mutations cause early-onset systemic lupus erythematosus by hijacking the NF-κB pathway towards transcriptional activation of type-I Interferon genes

Laura Barnabei , Hicham Lamrini , Mathieu Castela , Nadia Jeremiah , Marie-Claude Stolzenberg , et al.
Preprints, Working Papers, ... hal-03001914v1

Pachymeningitis after meningococcal infection.

Julie Toubiana , Claire Heilbronner , Cyril Gitiaux , Mehdi Oualha , Muhamed-Kheir Taha , et al.
The Lancet, 2013, 381 (9877), pp.1596. ⟨10.1016/S0140-6736(13)60315-3⟩
Journal articles pasteur-02089082v1
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Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

Minji Byun , Cindy S. Ma , Arzu Akçay , Vincent Pedergnana , Umaimainthan Palendira , et al.
Journal of Experimental Medicine, 2013, 210 (9), pp.1743 - 1759. ⟨10.1084/jem.20130592⟩
Journal articles pasteur-01370948v1

Corrigendum: Evidence of innate lymphoid cell redundancy in humans

Frederic Vely , Vincent Barlogis , Blandine Vallentin , Bénédicte Neven , Christelle Piperoglou , et al.
Nature Immunology, 2016, 17, pp.1479. ⟨10.1038/ni1216-1479b⟩
Journal articles hal-01482373v1

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

Ariane Chapgier , Stéphanie Boisson-Dupuis , Emmanuelle Jouanguy , Guillaume Vogt , Jacqueline Feinberg , et al.
PLoS Genetics, 2006, 2 (8), pp.e131. ⟨10.1371/journal.pgen.0020131⟩
Journal articles hal-00164335v1
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Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds.

Fabienne Charbit-Henrion , Bernadette Bègue , Anaïs Sierra , Sylvain Hanein , Marie-Claude Stolzenberg , et al.
PLoS ONE, 2018, 13 (10), pp.e0205826. ⟨10.1371/journal.pone.0205826⟩
Journal articles pasteur-02070998v1

Outcome after failure of allogeneic hematopoietic stem cell transplantation in children with acute leukemia: a study by the société Francophone de greffe de moelle et de thérapie cellulaire (SFGM-TC)

Laurent Gilardin , Sandrine Delignat , Ivan Peyron , Mathieu Ing , Yu-Chun Lone , et al.
Bone Marrow Transplantation, 2017, 52 (5), pp.678-682. ⟨10.1038/bmt.2016.360⟩
Journal articles hal-02466291v1
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Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.

Bertrand Boisson , Emmanuel Laplantine , Kerry Dobbs , Aurélie Cobat , Nadine Tarantino , et al.
Journal of Experimental Medicine, 2015, ⟨10.1084/jem.20141130⟩
Journal articles pasteur-01158038v1

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity

Anne-Laure Mathieu , Estelle Verronese , Gillian I. Rice , Fanny Fouyssac , Yves Bertrand , et al.
Journal of Allergy and Clinical Immunology, 2015, 135 (6), pp.1578-1588.e5. ⟨10.1016/j.jaci.2015.01.040⟩
Journal articles hal-01917848v1

Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies

Jérôme Hadjadj , Aurélien Guffroy , Christophe Delavaud , Guillaume Taieb , Isabelle Meyts , et al.
Journal of Clinical Immunology, 2019, 39 (1), pp.55-64. ⟨10.1007/s10875-018-0578-8⟩
Journal articles pasteur-02448936v1

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation

Tangui Le Guen , Fabien Touzot , Isabelle André-Schmutz , Chantal Lagresle-Peyrou , Benoit France , et al.
Journal of Allergy and Clinical Immunology, 2015, 136, pp.1619-26. ⟨10.1016/j.jaci.2015.06.008⟩
Journal articles hal-01252419v1
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Strains Responsible for Invasive Meningococcal Disease in Patients With Terminal Complement Pathway Deficiencies.

Paula Vieira Martins , Carine El Sissy , Ala-Eddine Deghmane , Loïc de Pontual , Muhamed-Kheir Taha , et al.
Journal of Infectious Diseases, 2017, 215 (8), pp.1331-1338. ⟨10.1093/infdis/jix143⟩
Journal articles pasteur-02013257v1

Prevention of Infections During Primary Immunodeficiency

Claire Aguilar , Marion Malphettes , Jean Donadieu , Olivia Chandesris , Hélène Coignard-Biehler , et al.
Clinical Infectious Diseases, 2014, 59 (10), pp.1462-1470. ⟨10.1093/cid/ciu646⟩
Journal articles pasteur-02454019v1

Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency

Fabian Hauck Md , Clotilde Randriamampita , Phdc Emmanuel Martin , Phda St Ephane Gerart , Phd Nathalie Lambert As , et al.
Journal of Allergy and Clinical Immunology, 2012, 130 (5), pp.1144-1152. ⟨10.1016/j.jaci.2012.07.029⟩
Journal articles istex hal-00752362v1

Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry

Nizar Mahlaoui , Capucine Picard , Perrine Bach , Laurence Costes , Virginie Courteille , et al.
Journal of Allergy and Clinical Immunology, 2019, 143 (4), pp.1646-1649.e10. ⟨10.1016/j.jaci.2018.12.994⟩
Journal articles hal-02015219v1