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The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

Arthritis & rheumatology (Hoboken, N.J.), 2016-11, Vol.68 (11), p.2795-2805

2016

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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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The hyperinflammatory spectrum: from defects in cytotoxicity to cytokine control

Frontiers in immunology, 2023-04, Vol.14, p.1163316-1163316

2023

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Treatment and management of primary antibody deficiency: German interdisciplinary evidence‐based consensus guideline

European journal of immunology, 2020-10, Vol.50 (10), p.1432-1446

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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Maturation of the Human Immunoglobulin Heavy Chain Repertoire With Age

Frontiers in immunology, 2020-08, Vol.11, p.1734-1734

2020

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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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Obesity-Induced Increase in Cystatin C Alleviates Tissue Inflammation

Diabetes (New York, N.Y.), 2020-09, Vol.69 (9), p.1927-1935

2020

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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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Epstein Barr virus-mediated transformation of B cells from XIAP-deficient patients leads to increased expression of the tumor suppressor CADM1

Cell death & disease, 2022-10, Vol.13 (10), p.892-892, Article 892

2022

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Febrile ulceronecrotic Mucha‐Habermann disease mimicking Kawasaki disease

Journal der Deutschen Dermatologischen Gesellschaft, 2020-02, Vol.18 (2), p.140-142

2020

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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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Causes of low neonatal T-cell receptor excision circles: A systematic review

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2017-09, Vol.5 (5), p.1457-1460.e22

2017

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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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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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Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood

Arthritis & rheumatology (Hoboken, N.J.), 2017-08, Vol.69 (8), p.1689-1700

2017

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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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MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

Blood, 2012-04, Vol.119 (15), p.3458-3468

2012

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Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity

Clinical immunology (Orlando, Fla.), 2020-01, Vol.210, p.108316-108316, Article 108316

2020

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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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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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Recurrent inflammatory disease caused by a heterozygous mutation in CD48

Journal of allergy and clinical immunology, 2019-11, Vol.144 (5), p.1441-1445.e17

2019

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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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Patterns of Immune Dysregulation in Primary Immunodeficiencies: A Systematic Review

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2021-02, Vol.9 (2), p.792-802.e10

2021

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The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

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

The hyperinflammatory spectrum: from defects in cytotoxicity to cytokine control

Treatment and management of primary antibody deficiency: German interdisciplinary evidence‐based consensus guideline

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

Maturation of the Human Immunoglobulin Heavy Chain Repertoire With Age

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

Obesity-Induced Increase in Cystatin C Alleviates Tissue Inflammation

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

Epstein Barr virus-mediated transformation of B cells from XIAP-deficient patients leads to increased expression of the tumor suppressor CADM1

Febrile ulceronecrotic Mucha‐Habermann disease mimicking Kawasaki disease

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

Causes of low neonatal T-cell receptor excision circles: A systematic review

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

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

Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood

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

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity

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

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

Incidental splenomegaly in a teenager

Recurrent inflammatory disease caused by a heterozygous mutation in CD48

Erythropoiesis defect observed in STAT3 GOF patients with severe anemia

Patterns of Immune Dysregulation in Primary Immunodeficiencies: A Systematic Review

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