The importance of functional validation after next-generation sequencing: evaluation of a novel CARD11 variant

Genomic diagnostics within a medically underserved population: efficacy and implications

(2017) Kevin A Strauss et al.   GENETICS IN MEDICINE

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

(2017) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Germline hypomorphic CARD11 mutations in severe atopic disease

(2017) Chi A Ma et al.   NATURE GENETICS

Cooperative Control of Caspase Recruitment Domain-containing Protein 11 (CARD11) Signaling by an Unusual Array of Redundant Repressive Elements

(2016) Rakhi P. Jattani et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetic Misdiagnoses and the Potential for Health Disparities

(2016) Arjun K. Manrai et al.   NEW ENGLAND JOURNAL OF MEDICINE

The paracaspase MALT1 cleaves HOIL1 reducing linear ubiquitination by LUBAC to dampen lymphocyte NF-κB signalling

(2015) Theo Klein et al.   Nature Communications

The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency

(2014) Stuart E. Turvey et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

(2013) Polina Stepensky et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Congenital B cell lymphocytosis explained by novel germlineCARD11mutations

(2012) Andrew L. Snow et al.   JOURNAL OF EXPERIMENTAL MEDICINE