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Publications Déficits immunitaires héréditaires

Daratumumab in life-threatening autoimmunehemolytic anemia following hematopoietic stem cell transplantation.

T cell defects in patients with ARPC1B germline mutations account for theircombined immunodeficiency.

Impaired IL-12- and IL-23-MediatedImmunity Due to IL-12Rβ1 Deficiency in Iranian Patients with MendelianSusceptibility to Mycobacterial Disease.

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.

Interest of immunodeficiencyscreening in adult after admission in medical intensive care unit for severeinfection, a retrospective and a prospective study: the Intensive Care Unit andPrimary and Secondary Immunodeficiency (ICUSPID) study.

Efficacy of oral sirolimus as salvage therapy in refractory lichen planus associated with immune deficiency.

Treatment dilemmas in asymptomatic children with primary haemophagocytic lymphohistiocytosis.

Epidermodysplasia verruciformis: Genetic heterogeneity and novel EVER1 and EVER2 mutations revealed by genome-wide analysis.

Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita.


PROMIDISα: A T-cell receptor αsignature associated with immunodeficiencies caused by V(D)J recombinationdefects.

Loss of RASGRP1 in humans impairs T-cell expansion leading to Epstein-Barr virus susceptibility. Winter S et al. EMBO Mol Med. 2018 Feb.

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations. Besnard C et al. Clin Immunol. 2018 Mar.

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. Maccari ME et al. Front Immunol. 2018 Mar 16.

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. Bousfiha A et al. J Clin Immunol. 2018 Jan.


International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. Picard C et al. J Clin Immunol. 2018 Jan. 
 
What do primary immunodeficiencies tell us about the essentiality/redundancy of immune responses ? Fischer et al. Semin Immunol. 2017 Dec 8.


Diagnosis and management of Aspergillus diseases: executive summary of the 2017 ESCMID-ECMM-ERS guideline. Ullmann AJ et al. Clin Microbiol Infect. 2018 Mar 12.
 

Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1). Heurtier L et al. Haematologica. 2017 Jul;102(7):e278-e281.

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations. Miot C et al. Blood. 2017 Sep 21;130(12):1456-1467.

Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study in France. Dunogué B et al. Clin Infect Dis. 2017 Mar 15;64(6):767-775. doi: 10.1093/cid/ciw837.
 
Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies. Fischer A et al. J Allergy Clin Immunol. 2017 Feb 10. pii: S0091-6749(17)30226-9. doi: 10.1016/j.jaci.2016.12.978. [Epub ahead of print].
 
Cutaneous and Visceral Chronic Granulomatous Disease Triggered by a Rubella Virus Vaccine Strain in Children With Primary Immunodeficiencies. Neven B et al. Clin Infect Dis. 2017 Jan 1;64(1):83-86. Epub 2016 Oct 6.
 
Ichthyosis as the dermatological phenotype associated with TTC7A mutations. Leclerc-Mercier S et al. Br J Dermatol. 2016 Nov;175(5):1061-1064. doi: 10.1111/bjd.14644. Epub 2016 Aug 31.
 
Evidence of innate lymphoid cell redundancy in humans. Vély F et al. Nat Immunol. 2016 Nov;17(11):1291-1299. doi: 10.1038/ni.3553. Epub 2016 Sep 12.
 
X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene. Lagresle-Peyrou C et  al. J Allergy Clin Immunol. 2016 Dec;138(6):1681-1689.e8. doi: 10.1016/j.jaci.2016.04.032. Epub 2016 Jun 4.

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
 
The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies.
 
The ratio of mean daily IgG increment/mean daily dose in immunoglobulin replacement therapy in primary antibody deficiencies.
 
Good syndrome: an adult-onset immunodeficiency remarkable for its high incidence of invasive infections and autoimmune complications.
 

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