Cargando…

Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases

Severe combined immunodeficiency (SCID) comprises a heterogeneous group of inherited immunologic disorders with profound defects in cellular and humoral immunity. SCID is the most severe PID and constitutes a pediatric emergency. Affected children are highly susceptible to bacterial, viral, fungal,...

Descripción completa

Detalles Bibliográficos
Autores principales:	Benhsaien, Ibtihal, Ailal, Fatima, Elazhary, Khadija, El bakkouri, Jalila, Badou, Abdallah, Bousfiha, Ahmed Aziz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7808801/ https://www.ncbi.nlm.nih.gov/pubmed/33505738 http://dx.doi.org/10.1155/2021/8819368

Ejemplares similares

Syndrome lymphoprolifératif avec autoimmunité: à propos d’un cas
por: Youssif, Houda Ben, et al.
Publicado: (2022)

Le profil clinique et immunologique de 15 patients Marocains atteints de syndrome hyper IgM
por: Ouair, Hind, et al.
Publicado: (2017)

Classification of common variable immunodeficiency through immunological and clinical phenotyping in Moroccan patients
por: Mokhantar, Khaoula, et al.
Publicado: (2023)

Le déficit immunitaire humoral: mieux le connaître pour mieux le prendre en charge
por: El Bakkouri, Jalila, et al.
Publicado: (2014)

Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients
por: El Kettani, Assiya, et al.
Publicado: (2023)

Chronic upper airway inflammation related to high Th2 cytokines in Mendelian susceptibility to mycobacterial disease case
por: Benhsaien, Ibtihal, et al.
Publicado: (2022)

HPV-Related Skin Phenotypes in Patients with Inborn Errors of Immunity
por: El Kettani, Assiya, et al.
Publicado: (2022)

Clinical and serological correlation of systemic sclerosis in Moroccan patients
por: Ouazahrou, Kaoutar, et al.
Publicado: (2023)

Syndrome d’activation macrophagique compliquant une lymphohistiocytose familiale
por: Boussaadni, Yousra El, et al.
Publicado: (2017)

Érythrodermie néonatale: ne pas méconnaitre un déficit immunitaire
por: El Ouali, Aziza, et al.
Publicado: (2014)

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy
por: Gruber, Conor, et al.
Publicado: (2020)

Quand faut il suspecter un déficit immunitaire chez l’adulte?
por: Allaoui, Abire, et al.
Publicado: (2022)

The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population
por: Naamane, H, et al.
Publicado: (2011)

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies
por: Bousfiha, Aziz, et al.
Publicado: (2015)

A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease
por: Kong, Xiao-Fei, et al.
Publicado: (2013)

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
por: Bousfiha, Aziz, et al.
Publicado: (2017)

A laboratory-based study of COVID-19 in Casablanca, Morocco
por: Diawara, Idrissa, et al.
Publicado: (2021)

A partial form of inherited human USP18 deficiency underlies infection and inflammation
por: Martin-Fernandez, Marta, et al.
Publicado: (2022)

Ensuring Access to Immunoglobulin Therapies for People with Primary Immunodeficiency: A Need to Improve Individuals’ Quality of Life and the Sustainability of Health-care Systems
por: Bousfiha, Ahmed Aziz, et al.
Publicado: (2017)

Prognostic Gene Expression Signature in Patients With Distinct Glioma Grades
por: Ait Ssi, Saadia, et al.
Publicado: (2021)

Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
por: Klemann, Christian, et al.
Publicado: (2019)

High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency
por: Yang, Rui, et al.
Publicado: (2021)

A Slfn2 mutation causes lymphoid and myeloid immunodeficiency due to loss of immune cell quiescence
por: Berger, Michael, et al.
Publicado: (2010)

Disruption of an anti-mycobacterial circuit between dendritic and Th cells in human SPPL2a deficiency
por: Kong, Xiao-Fei, et al.
Publicado: (2018)

Human T-bet governs the generation of a distinct subset of CD11c(high)CD21(low) B cells
por: Yang, Rui, et al.
Publicado: (2022)

Primary Immunodeficiencies: A Decade of Progress and a Promising Future
por: Meyts, Isabelle, et al.
Publicado: (2021)

Capparis Spinosa L. promotes anti-inflammatory response in vitro through the control of cytokine gene expression in human peripheral blood mononuclear cells
por: Moutia, Mouna, et al.
Publicado: (2016)

Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation
por: Punwani, Divya, et al.
Publicado: (2015)

Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients
por: Aljohani, Amal H., et al.
Publicado: (2020)

Zebrafish Model of Severe Combined Immunodeficiency (SCID) Due to JAK3 Mutation
por: Basheer, Faiza, et al.
Publicado: (2022)

Case report: Primary immunodeficiency due to a novel mutation in CARMIL2 and its response to combined immunomodulatory therapy
por: Zhu, Yu, et al.
Publicado: (2023)

Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression
por: Jouhadi, Zineb, et al.
Publicado: (2018)

Anti-inflammatory potential of Capparis spinosa L. in vivo in mice through inhibition of cell infiltration and cytokine gene expression
por: El Azhary, Khadija, et al.
Publicado: (2017)

Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency
por: Yu, Fang, et al.
Publicado: (2021)

In Vitro and In Vivo Immunomodulator Activities of Allium sativum L.
por: Moutia, Mouna, et al.
Publicado: (2018)

A human immunodeficiency syndrome caused by mutations in CARMIL2
por: Schober, T., et al.
Publicado: (2017)

Recurrent SARS-CoV-2 mutations in immunodeficient patients
por: Wilkinson, S A J, et al.
Publicado: (2022)

Signaling role for Mg(2+) revealed by immunodeficiency due to loss of MagT1
por: Li, Feng-Yen, et al.
Publicado: (2011)

TMIGD2 as a potential therapeutic target in glioma patients
por: Boulhen, Chaimae, et al.
Publicado: (2023)

Hydroxychloroquine (HCQ): real treatment or false hope?
por: El Bakkouri, Karim
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_mnl8n1rkacsb0jib18al0ngbfb