Search results for: Capucine Picard

Items from 1 to 20 out of 128 results

article

Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients

Chloé Bianchi, Henri Margot, Helder Fernandes, Marlène Pasquet, more

British Journal of Haematology > 204 > 5 > 1899 - 1907

Kabuki syndrome (KS) is now listed in the Human Inborn Errors of Immunity (IEI) Classification. It is a rare disease caused by KMT2D and KDM6A variants, dominated by intellectual disability and characteristic facial features. Recurrently, pathogenic variants are identified in those genes in patients examined for autoimmune cytopenia (AIC), but interpretation remains challenging. This study aims to...

article

Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency

Eduardo Liquidano‐Perez, Gibert Maza‐Ramos, Bethy Alexandra Perez Arias, Saul Oswaldo Lugo Reyes, more

Pediatric Allergy and Immunology > 35 > 2 > n/a - n/a

Purpose We aimed to describe the clinical, immunological, and genetic features of patients with DOCK8 deficiency (DOCK8‐Def) in a tertiary care center for children. Methods Retrospective chart review of patients' clinical, immunological, and genetic characteristics with DOCK8‐Def. Genetic analysis was performed with targeted‐ or whole‐exome sequencing; we also assessed DOCK8 protein expression...

article

Break down the barriers of auto‐inflammation: How to deal with a monogenic auto‐inflammatory disease and immuno‐haematological features in 2022?

Hélène Vergneault, Capucine Picard, Sophie Georgin‐Lavialle

Immunology > 168 > 1 > 1 - 17

In the past few years, the spectrum of monogenic systemic auto‐inflammatory diseases (MSAID) has widely expanded beyond the typical recurrent fever. Immuno‐haematological features, as cytopenias, hypogammaglobulinemia, hypereosinophilia, lymphoproliferation and immunodeficiency, have been described in association of several MSAID. The objective of this review was to describe these particular MSAID...

article

A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency

Hélène Coignard-Biehler, Nizar Mahlaoui, Benoit Pilmis, Vincent Barlogis, more

Journal of Clinical Immunology > 2019 > 39 > 7 > 702-712

Purpose Patients with primary immunodeficiency (PID) are at risk of serious complications. However, data on the incidence and causes of emergency hospital admissions are scarce. The primary objective of the present study was to describe emergency hospital admissions among patients with PID, with a view to identifying “at-risk” patient profiles. Methods We performed a prospective observational 12-month...

article

Fulminant arterial vasculitis as an unusual complication of disseminated staphylococcal disease due to the emerging CC1 methicillin-susceptible Staphylococcus aureus clone: a case report

Charles Vidal, Florence Moulin, Xavier Nassif, Louise Galmiche, more

BMC Infectious Diseases > 2019 > 19 > 1 > 1-5

Background Staphylococcus aureus has emerged as a leading cause of invasive severe diseases with a high rate of morbidity and mortality worldwide. The wide spectrum of clinical manifestations and outcome observed in staphylococcal illness may be a consequence of both microbial factors and variability of the host immune response. Case presentation A 14-years old child developed limb ischemia with...

article

Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies

Jérôme Hadjadj, Aurélien Guffroy, Christophe Delavaud, Guillaume Taieb, more

Journal of Clinical Immunology > 2019 > 39 > 1 > 55-64

Purpose Progressive multifocal leukoencephalopathy (PML) is a rare but severe demyelinating disease caused by the polyomavirus JC (JCV) in immunocompromised patients. We report a series of patients with primary immune deficiencies (PIDs) who developed PML. Methods Retrospective observational study including PID patients with PML. Clinical, immunological, imaging features, and outcome are provided...

article

Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome

Sarah Law‐Ping‐Man, Fabienne Toutain, Frédéric Rieux‐Laucat, Capucine Picard, more

Pediatric Dermatology > 35 > 6 > e375 - e377

Transporter associated with antigen processing (TAP) is essential for the stabilization and surface expression of major histocompatibility complex class I molecules of all nucleated cells. TAP deficiency syndrome, also known as bare lymphocyte syndrome type I, is a rare primary immunodeficiency disorder. We report a case of TAP1 deficiency revealed by skin lesions long before the occurrence of respiratory...

article

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

Jérémie Rosain, Carmen Oleaga-Quintas, Caroline Deswarte, Hannah Verdin, more

Journal of Clinical Immunology > 2018 > 38 > 5 > 617-627

Purpose Inborn errors of IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD). Autosomal recessive complete IL-12Rβ1 deficiency is the most frequent genetic etiology of MSMD. Only two of the 84 known mutations are copy number variations (CNVs), identified in two of the 213 IL-12Rβ1-deficient patients and two of the 164 kindreds reported. These two CNVs are large deletions...

article

Next generation phenotyping using narrative reports in a rare disease clinical data warehouse

Nicolas Garcelon, Antoine Neuraz, Rémi Salomon, Nadia Bahi-Buisson, more

Orphanet Journal of Rare Diseases > 2018 > 13 > 1 > 1-11

Background Secondary use of data collected in Electronic Health Records opens perspectives for increasing our knowledge of rare diseases. The clinical data warehouse (named Dr. Warehouse) at the Necker-Enfants Malades Children’s Hospital contains data collected during normal care for thousands of patients. Dr. Warehouse is oriented toward the exploration of clinical narratives. In this study, we present...

article

Comprehensive molecular diagnosis of Epstein–Barr virus-associated lymphoproliferative diseases using next-generation sequencing

Shintaro Ono, Manabu Nakayama, Hirokazu Kanegane, Akihiro Hoshino, more

International Journal of Hematology > 2018 > 108 > 3 > 319-328

Epstein–Barr virus (EBV) is associated with several life-threatening diseases, such as lymphoproliferative disease (LPD), particularly in immunocompromised hosts. Some categories of primary immunodeficiency diseases (PIDs) including X-linked lymphoproliferative syndrome (XLP), are characterized by susceptibility and vulnerability to EBV infection. The number of genetically defined PIDs is rapidly...

article

Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency

Hassan Abolhassani, Janet Chou, Wayne Bainter, Craig D. Platt, more

Journal of Allergy and Clinical Immunology > 2018 > 141 > 4 > 1450-1458

Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle East than Western countries, the resources for genetic diagnosis are limited.This study aims to characterize the categories of patients with CIDs in Iran clinically and genetically.Clinical and laboratory data were obtained from 696 patients...

article

Burden of Poor Health Conditions and Quality of Life in 656 Children with Primary Immunodeficiency

Vincent Barlogis, Nizar Mahlaoui, Pascal Auquier, Fanny Fouyssac, more

The Journal of Pediatrics > 2018 > 194 > C > 211-217.e5

To gain insight into how primary immunodeficiencies (PIDs) affect children's health status and quality of life.The French Reference Center for PIDs conducted a prospective multicenter cohort that enrolled participants who met all criteria: patients included in the French Reference Center for PIDs registry, children younger than18 years, and living in France. Participants were asked to complete both...

article

Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

Daniel Petersheim, Michel J. Massaad, Saetbyul Lee, Alessia Scarselli, more

Journal of Allergy and Clinical Immunology > 2018 > 141 > 3 > 1060-1073.e3

Autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency (AD EDA-ID) is caused by heterozygous point mutations at or close to serine 32 and serine 36 or N-terminal truncations in IκBα that impair its phosphorylation and degradation and thus activation of the canonical nuclear factor κ light chain enhancer of activated B cells (NF-κB) pathway. The outcome of hematopoietic stem cell...

article

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

Aziz Bousfiha, Leïla Jeddane, Capucine Picard, Fatima Ailal, more

Journal of Clinical Immunology > 2018 > 38 > 1 > 129-143

Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity. This complete catalog serves as a reference for immunologists and researchers worldwide. However, it was unadapted for clinicians at the bedside. For those, the IUIS PID...

article

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

Capucine Picard, H. Bobby Gaspar, Waleed Al-Herz, Aziz Bousfiha, more

Journal of Clinical Immunology > 2018 > 38 > 1 > 96-128

Beginning in 1970, a committee was constituted under the auspices of the World Health Organization (WHO) to catalog primary immunodeficiencies. Twenty years later, the International Union of Immunological Societies (IUIS) took the remit of this committee. The current report details the categorization and listing of 354 (as of February 2017) inborn errors of immunity. The growth and increasing complexity...

article

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, more

Journal of Allergy and Clinical Immunology > 2017 > 140 > 6 > 1671-1682.e2

Incontinentia pigmenti (IP; MIM308300) is a severe, male-lethal, X-linked, dominant genodermatosis resulting from loss-of-function mutations in the IKBKG gene encoding nuclear factor κB (NF-κB) essential modulator (NEMO; the regulatory subunit of the IκB kinase [IKK] complex). In 80% of cases of IP, the deletion of exons 4 to 10 leads to the absence of NEMO and total inhibition of NF-κB signaling...

article

Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies

Alain Fischer, Johan Provot, Jean-Philippe Jais, Alexandre Alcais, more

Journal of Allergy and Clinical Immunology > 2017 > 140 > 5 > 1388-1393.e8

Primary immunodeficiencies (PIDs) are inherited diseases associated with a considerable increase in susceptibility to infections. It is known that PIDs can also predispose to cancer and immune diseases, including allergy, autoimmunity, and inflammation.We aimed at determining the incidence of autoimmunity and inflammation in patients with PIDs.We have retrospectively screened 2183 consecutive cases...

article

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

Virginie Grandin, Fernando E Sepulveda, Nathalie Lambert, Mofareh Al Zahrani, more

Human Mutation > 38 > 10 > 1355 - 1359

Griscelli syndrome type 2 (GS2) is a rare and often fatal autosomal recessive, hyperinflammatory disorder. It is associated with hypopigmentation of the skin and the hair, resulting in the characteristic pigment accumulation and clumping in the hair shaft. Loss‐of‐function mutations in RAB27A, resulting from point mutations, short indel, or large deletions, account for all the cases reported to date...

article

Structural and functional studies of human complement factor P

Dennis V. Pedersen, Lubka Roumenina, Rasmus K. Jensen, Trine A.F. Gadeberg, more

Molecular Immunology > 2017 > 89 > Complete > 197-198

article

Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency

Bertrand Boisson, Anne Puel, Capucine Picard, Jean-Laurent Casanova

Journal of Clinical Immunology > 2017 > 37 > 5 > 397-412

Germline heterozygous gain-of-function (GOF) mutations of NFKBIA, encoding IκBα, cause an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Fourteen unrelated patients have been reported since the identification of the first case in 2003. All mutations enhanced the inhibitory activity of IκBα, by preventing its phosphorylation on serine 32 or 36 and its...

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Search results for: Capucine Picard

Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients

Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency

Break down the barriers of auto‐inflammation: How to deal with a monogenic auto‐inflammatory disease and immuno‐haematological features in 2022?

A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency

Fulminant arterial vasculitis as an unusual complication of disseminated staphylococcal disease due to the emerging CC1 methicillin-susceptible Staphylococcus aureus clone: a case report

Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies

Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

Next generation phenotyping using narrative reports in a rare disease clinical data warehouse

Comprehensive molecular diagnosis of Epstein–Barr virus-associated lymphoproliferative diseases using next-generation sequencing

Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency

Burden of Poor Health Conditions and Quality of Life in 656 Children with Primary Immunodeficiency

Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

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

Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

Structural and functional studies of human complement factor P

Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency

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