Combined immunodeficiency associated with homozygous MALT1 mutations.

[1]  Toshiro K. Ohsumi,et al.  A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. , 2013, The Journal of allergy and clinical immunology.

[2]  T. Rausch,et al.  Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency. , 2013, The Journal of allergy and clinical immunology.

[3]  Anne-Kathrin Kienzler,et al.  Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects. , 2013, The Journal of allergy and clinical immunology.

[4]  D. Altshuler,et al.  A map of human genome variation from population-scale sequencing , 2010, Nature.

[5]  H. Ochs,et al.  Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. , 2010, The Journal of allergy and clinical immunology.

[6]  Jana Marie Schwarz,et al.  MutationTaster evaluates disease-causing potential of sequence alterations , 2010, Nature Methods.

[7]  H. Hakonarson,et al.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.

[8]  T. Mak,et al.  Differential requirement of MALT1 for BAFF-induced outcomes in B cell subsets , 2009, The Journal of experimental medicine.

[9]  Anne-Kathrin Kienzler,et al.  B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans , 2009, Proceedings of the National Academy of Sciences.

[10]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

[11]  J. Orange,et al.  Prevalence of Toll-like receptor signalling defects in apparently healthy children who developed invasive pneumococcal infection. , 2007, Clinical immunology.

[12]  V. Dixit,et al.  Regulation of NF-κB-Dependent Lymphocyte Activation and Development by Paracaspase , 2003, Science.

[13]  Jürgen Ruland,et al.  Differential requirement for Malt1 in T and B cell antigen receptor signaling. , 2003, Immunity.

[14]  S. Morris,et al.  Defective development and function of Bcl10-deficient follicular, marginal zone and B1 B cells , 2003, Nature Immunology.

[15]  Chris Bakal,et al.  The MAGUK family protein CARD11 is essential for lymphocyte activation. , 2003, Immunity.

[16]  S. Henikoff,et al.  Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.