Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation

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

Structural aspects of HLA class I epitopes reacting with human monoclonal antibodies in Ig-binding, C1q-binding and lymphocytotoxicity assays

(2013) Rene J. Duquesnoy et al.   HUMAN IMMUNOLOGY

Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency

(2013) Johann Greil 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

A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency

(2013) Haifa H. Jabara et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Structural Architecture of the CARMA1/Bcl10/MALT1 Signalosome: Nucleation-Induced Filamentous Assembly

(2013) Qi Qiao et al.   MOLECULAR CELL

Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation

(2013) Ulrich Pannicke et al.   NEW ENGLAND JOURNAL OF MEDICINE

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia

(2012) Jacob Mallott et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Neonatal screening for severe combined immunodeficiency

(2011) Jennifer M. Puck   CURRENT OPINION IN PEDIATRICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Crystal structure of the mucosa-associated lymphoid tissue lymphoma translocation 1 (MALT1) paracaspase region

(2011) J. W. Yu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Antigen Receptor Signaling to NF- B via CARMA1, BCL10, and MALT1

(2010) M. Thome et al.   Cold Spring Harbor Perspectives in Biology

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

How I treat ADA deficiency

(2009) H. B. Gaspar et al.   BLOOD

ORAI1 and STIM1 deficiency in human and mice: roles of store-operated Ca2+entry in the immune system and beyond

(2009) Stefan Feske   IMMUNOLOGICAL REVIEWS

CARMA1 Controls an Early Checkpoint in the Thymic Development of FoxP3+ Regulatory T Cells

(2009) L. L. Molinero et al.   JOURNAL OF IMMUNOLOGY