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Ikaros family zinc finger 1 regulates dendritic cell development and function in humans

Nature communications, 2018-03, Vol.9 (1), p.1239-10, Article 1239

2018

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Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay – management recommendations

Swiss medical weekly, 2020-06, Vol.150 (2526), p.w20254

2020

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Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome

Frontiers in immunology, 2022-10, Vol.13, p.867206

2022

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A degranulation assay using Vγ9Vδ2 T cells for the rapid diagnosis of familial hemophagocytic syndromes

Frontiers in immunology, 2024-06, Vol.15, p.1391967

2024

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Beat Richner MD

European heart journal, 2019-04, Vol.40 (15), p.1173-1174

Prader, Seraina

2019

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Life-Threatening Primary Varicella Zoster Virus Infection With Hemophagocytic Lymphohistiocytosis-Like Disease in GATA2 Haploinsufficiency Accompanied by Expansion of Double Negative T-Lymphocytes

Frontiers in immunology, 2018-12, Vol.9, p.2766-2766

2018

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Persistent mammalian orthoreovirus, coxsackievirus and adenovirus co-infection in a child with a primary immunodeficiency detected by metagenomic sequencing: a case report

BMC infectious diseases, 2018-01, Vol.18 (1), p.33-33, Article 33

2018

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Targeted busulfan-based reduced-intensity conditioning and HLA-matched HSCT cure hemophagocytic lymphohistiocytosis

Blood advances, 2020-05, Vol.4 (9), p.1998-2010

2020

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X-Linked Lymphoproliferative Disease Mimicking Multisystem Inflammatory Syndrome in Children—A Case Report

Frontiers in pediatrics, 2021-08, Vol.9

2021

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In memoriam Beat Richner

Bulletin des Médecins Suisses, 2018-10

Prader, Seraina

2018

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Fatal RSV in SCID: the Importance of Infection Prevention Despite Newborn Screening

Journal of clinical immunology, 2023-04, Vol.43 (3), p.554-556

2023

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Delayed B-cell maturation and attenuated vaccine responses in infants exposed to B-cell depleting therapies in utero

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2024-08, Vol.12 (11), p.3155-3158.e1

2024

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Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening

Journal of clinical immunology, 2024-01, Vol.44 (1), p.39, Article 39

2024

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Fevers and ulcers in a newborn—Think genetics and act quickly

Pediatric allergy and immunology, 2024-03, Vol.35 (3), p.e14102-n/a

2024

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Telomere biology disorders may manifest as common variable immunodeficiency (CVID)

Clinical immunology (Orlando, Fla.), 2023-12, Vol.257, p.109837-109837, Article 109837

2023

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Severe T-cell lymphopenia in a patient with microduplication 22q11.2 identified by newborn screening

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2024-08, Vol.12 (8), p.2199-2200.e1

2024

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Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

Journal of allergy and clinical immunology, 2021-08, Vol.148 (2), p.381-393

2021

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Incidental splenomegaly in a teenager

Archives of disease in childhood. Education and practice edition, 2023-06, Vol.108 (3), p.196-198

2023

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Modern management of phagocyte defects

Pediatric allergy and immunology, 2017-03, Vol.28 (2), p.124-134

2017

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Disease evolution and response to rapamycin in Activated Phosphoinositide 3-Kinase δ syndrome: the european society for immunodeficiencies-Activated Phosphoinositide 3-Kinase d syndrome registry

Frontiers in immunology, 2018-03, Vol.9

2018

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Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia

Journal of allergy and clinical immunology, 2024-08, Vol.154 (5), p.1313-1324.e7

2024

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Thrombotic Microangiopathy Associated with Macrophage Activation Syndrome: A Multinational Study of 23 Patients

The Journal of pediatrics, 2021-08, Vol.235, p.196-202

2021

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Erythropoiesis defect observed in STAT3 GOF patients with severe anemia

Journal of allergy and clinical immunology, 2020-04, Vol.145 (4), p.1297-1301

2020

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Ikaros family zinc finger 1 regulates dendritic cell development and function in humans

Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay – management recommendations

Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome

A degranulation assay using Vγ9Vδ2 T cells for the rapid diagnosis of familial hemophagocytic syndromes

Beat Richner MD

Life-Threatening Primary Varicella Zoster Virus Infection With Hemophagocytic Lymphohistiocytosis-Like Disease in GATA2 Haploinsufficiency Accompanied by Expansion of Double Negative T-Lymphocytes

Persistent mammalian orthoreovirus, coxsackievirus and adenovirus co-infection in a child with a primary immunodeficiency detected by metagenomic sequencing: a case report

Targeted busulfan-based reduced-intensity conditioning and HLA-matched HSCT cure hemophagocytic lymphohistiocytosis

X-Linked Lymphoproliferative Disease Mimicking Multisystem Inflammatory Syndrome in Children—A Case Report

In memoriam Beat Richner

Fatal RSV in SCID: the Importance of Infection Prevention Despite Newborn Screening

Delayed B-cell maturation and attenuated vaccine responses in infants exposed to B-cell depleting therapies in utero

Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening

Lymphadenopathy driven by TCR-Vγ8Vδ1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome

Fevers and ulcers in a newborn—Think genetics and act quickly

Telomere biology disorders may manifest as common variable immunodeficiency (CVID)

Severe T-cell lymphopenia in a patient with microduplication 22q11.2 identified by newborn screening

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

Incidental splenomegaly in a teenager

Modern management of phagocyte defects

Disease evolution and response to rapamycin in Activated Phosphoinositide 3-Kinase δ syndrome: the european society for immunodeficiencies-Activated Phosphoinositide 3-Kinase d syndrome registry

Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia

Thrombotic Microangiopathy Associated with Macrophage Activation Syndrome: A Multinational Study of 23 Patients

Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation

Erythropoiesis defect observed in STAT3 GOF patients with severe anemia

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