Phenoidentical HLA-Related Hematopoietic Stem Cell Transplant Without Conditioning to Reconstitute a Patient with a Putative Loss-of-Function CARD11 Mutation

[1]  J. Casanova,et al.  Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee , 2020, Journal of Clinical Immunology.

[2]  A. Al-ghonaium,et al.  Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. , 2016, The Journal of allergy and clinical immunology.

[3]  U. Pannicke,et al.  Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency. , 2015, Blood.

[4]  J. Casanova,et al.  Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity. , 2015, The Journal of allergy and clinical immunology.

[5]  A. Fischer,et al.  The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency. , 2014, The Journal of allergy and clinical immunology.

[6]  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.

[7]  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.

[8]  A. Nahum,et al.  Immune deficiencies , infection , and systemic immune disorders Defining combined immunodeficiency , 2012 .

[9]  M. van der Burg,et al.  Educational paper , 2011, European Journal of Pediatrics.

[10]  M. Cooper,et al.  Primary immunodeficiencies. , 2003, American family physician.

[11]  Chris Maloney,et al.  PubMed Central , 2017 .

[12]  L. Notarangelo,et al.  Primary immunodeficiencies. , 2010, The Journal of allergy and clinical immunology.