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List of works by Filomeen Haerynck

A Computational Pipeline for the Diagnosis of CVID Patients

scientific article published on 30 August 2019

A Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation

scientific article published on 31 October 2018

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects.

scientific article published on 18 September 2017

A novel LRBA mutation presents with normal CTLA-4 and overactive Th17 immunity

scientific article published on 05 September 2018

Achromobacter xylosoxidans in cystic fibrosis: prevalence and clinical relevance

scientific article published on 21 June 2006

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

scientific article published on 24 September 2020

Birdshot-like chorioretinopathy in common variable immunodeficiency

scientific article published in January 2012

Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever

scientific article published on 20 April 2020

Case Report: Convalescent Plasma, a Targeted Therapy for Patients with CVID and Severe COVID-19

scientific article published on 20 November 2020

Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency

scientific article

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

scientific article published on 30 November 2010

Colistin and neurotoxicity: recommendations for optimal use in cystic fibrosis patients

scientific article

Comparison of culture and qPCR for the detection of Pseudomonas aeruginosa in not chronically infected cystic fibrosis patients

scientific article

Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis.

scientific article

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

scientific article published on 01 June 2020

Defects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in patients with CVID and immunoglobulin subclass deficiencies

scientific article published on 28 February 2019

Development and validation of an LC tandem MS assay for the quantification of β-lactam antibiotics in the sputum of cystic fibrosis patients.

scientific article

Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain

scientific article

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

scientific article published on 01 June 2020

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

scientific article

Eradication therapy for Pseudomonas aeruginosa colonization episodes in cystic fibrosis patients not chronically colonized by P. aeruginosa

scientific article published on 29 August 2012

Erratum to: Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency

scientific article published on 26 April 2016

EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children

scientific article published on 19 March 2020

Exercise performance and quality of life in children with cystic fibrosis and mildly impaired lung function: relation with antibiotic treatments and hospitalization.

scientific article published on 30 September 2017

Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation

scientific article

GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner

scientific article published on 11 November 2019

Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

scientific article published on June 2016

Genes at the Crossroad of Primary Immunodeficiencies and Cancer

article

Genotype based evaluation of Pseudomonas aeruginosa eradication treatment success in cystic fibrosis patients

scientific article published on 8 December 2009

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

scientific article published on 04 September 2019

Human genetic and immunological determinants of critical COVID-19 pneumonia

scientific article published on 28 January 2022

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

scientific article published on 27 March 2018

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

scientific article published on 24 September 2020

Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication.

scientific article published on 15 January 2014

Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study.

scientific article published on 11 December 2017

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

scientific article published on 27 December 2019

Malacia, inflammation and bronchoalveolar lavage culture in children with persistent respiratory symptoms ⬇️

scientific article published on July 20, 2011

Milk protein and Oil-Red-O staining of alveolar macrophages in chronic respiratory disease of infancy

scientific article

Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome

scientific article

Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo-exon activation in the BLM gene

scientific article published on 09 October 2020

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

scientific article

Persistent rotavirus diarrhea post-transplant in a novel JAK3-SCID patient after vaccination.

scientific article published on 6 August 2015

Plasma C3d levels as a diagnostic marker for complete complement factor I deficiency

scientific article published on 24 August 2020

Pneumococcal antibody levels in children with PID receiving immunoglobulin

scientific article published on 23 December 2013

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

scientific article

Structural Activation of Pro-inflammatory Human Cytokine IL-23 by Cognate IL-23 Receptor Enables Recruitment of the Shared Receptor IL-12Rβ1.

scientific article published on 21 December 2017

The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives ⬇️

scientific article published on 15 September 2016

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

scientific article published on 16 May 2022

When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF.

scientific article

X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world

scientific article published on 22 March 2019

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