@article {980,
	title = {IFN-α2a Therapy in Two Patients with Inborn Errors of TLR3 and IRF3 Infected with SARS-CoV-2.},
	journal = {J Clin Immunol},
	volume = {41},
	year = {2021},
	month = {2021 01},
	pages = {26-27},
	keywords = {Adult, COVID-19, Female, Humans, Interferon Regulatory Factor-3, Interferon Type I, Interferon-alpha, Polyethylene Glycols, Primary Immunodeficiency Diseases, Recombinant Proteins, SARS-CoV-2, Toll-Like Receptor 3, Treatment Outcome},
	issn = {1573-2592},
	doi = {10.1007/s10875-020-00933-0},
	author = {L{\'e}vy, Romain and Bastard, Paul and Lanternier, Fanny and Lecuit, Marc and Zhang, Shen-Ying and Casanova, Jean-Laurent}
}
@article {937,
	title = {Human NK cell deficiency as a result of biallelic mutations in MCM10.},
	journal = {J Clin Invest},
	volume = {130},
	year = {2020},
	month = {2020 10 01},
	pages = {5272-5286},
	abstract = {<p>Human natural killer cell deficiency (NKD) arises from inborn errors of immunity that lead to impaired NK cell development, function, or both. Through the understanding of the biological perturbations in individuals with NKD, requirements for the generation of terminally mature functional innate effector cells can be elucidated. Here, we report a cause of NKD resulting from compound heterozygous mutations in minichromosomal maintenance complex member 10 (MCM10) that impaired NK cell maturation in a child with fatal susceptibility to CMV. MCM10 has not been previously associated with monogenic disease and plays a critical role in the activation and function of the eukaryotic DNA replisome. Through evaluation of patient primary fibroblasts, modeling patient mutations in fibroblast cell lines, and MCM10 knockdown in human NK cell lines, we have shown that loss of MCM10 function leads to impaired cell cycle progression and induction of DNA damage-response pathways. By modeling MCM10 deficiency in primary NK cell precursors, including patient-derived induced pluripotent stem cells, we further demonstrated that MCM10 is required for NK cell terminal maturation and acquisition of immunological system function. Together, these data define MCM10 as an NKD gene and provide biological insight into the requirement for the DNA replisome in human NK cell maturation and function.</p>},
	keywords = {Alleles, Cell Cycle Checkpoints, Cell Differentiation, Cell Line, Codon, Nonsense, DNA Damage, Fatal Outcome, Female, Gene Knockdown Techniques, Heterozygote, Humans, Induced Pluripotent Stem Cells, Infant, Killer Cells, Natural, Male, Minichromosome Maintenance Proteins, Models, Immunological, Mutation, Mutation, Missense, Pedigree, Primary Immunodeficiency Diseases},
	issn = {1558-8238},
	doi = {10.1172/JCI134966},
	author = {Mace, Emily M and Paust, Silke and Conte, Matilde I and Baxley, Ryan M and Schmit, Megan M and Patil, Sagar L and Guilz, Nicole C and Mukherjee, Malini and Pezzi, Ashley E and Chmielowiec, Jolanta and Tatineni, Swetha and Chinn, Ivan K and Akdemir, Zeynep Coban and Jhangiani, Shalini N and Muzny, Donna M and Stray-Pedersen, Asbj{\o}rg and Bradley, Rachel E and Moody, Mo and Connor, Philip P and Heaps, Adrian G and Steward, Colin and Banerjee, Pinaki P and Gibbs, Richard A and Borowiak, Malgorzata and Lupski, James R and Jolles, Stephen and Bielinsky, Anja K and Orange, Jordan S}
}
@article {773,
	title = {Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation.},
	journal = {J Allergy Clin Immunol Pract},
	volume = {8},
	year = {2020},
	month = {2020 03},
	pages = {1103-1106.e3},
	keywords = {Herpesvirus 4, Human, Humans, Immunologic Deficiency Syndromes, Mutation, Neoplasms, Primary Immunodeficiency Diseases, Stem Cell Transplantation},
	issn = {2213-2201},
	doi = {10.1016/j.jaip.2019.08.040},
	author = {Burk, Caitlin M and Coffey, Kara E and Mace, Emily M and Bostwick, Bret L and Chinn, Ivan K and Coban-Akdemir, Zeynep H and Jhangiani, Shalini N and Lupski, James R and Ortiz, Damara and Barnum, Jessie L and Allen, Steven W and Robertson, Leanna-Marie and Orange, Jordan S and Chong, Hey J}
}
@article {908,
	title = {Multiplexed Functional Assessment of Genetic Variants in CARD11.},
	journal = {Am J Hum Genet},
	volume = {107},
	year = {2020},
	month = {2020 12 03},
	pages = {1029-1043},
	abstract = {<p>Genetic testing has increased the number of variants identified in disease genes, but the diagnostic utility is limited by lack of understanding variant function. CARD11 encodes an adaptor protein that expresses dominant-negative and gain-of-function variants associated with distinct immunodeficiencies. Here, we used a "cloning-free" saturation genome editing approach in a diploid cell line to simultaneously score 2,542 variants for decreased or increased function in the region of CARD11 associated with immunodeficiency. We also described an exon-skipping mechanism for CARD11 dominant-negative activity. The classification of reported clinical variants was sensitive (94.6\%) and specific (88.9\%), which rendered the data immediately useful for interpretation of seven coding and splicing variants implicated in immunodeficiency found in our clinic. This approach is generalizable for variant interpretation in many other clinically actionable genes, in any relevant cell type.</p>},
	keywords = {Adenine, B-Cell CLL-Lymphoma 10 Protein, B-Lymphocytes, CARD Signaling Adaptor Proteins, Cell Line, Diploidy, Exons, Genes, Dominant, Genetic Variation, Guanylate Cyclase, Humans, Immunologic Deficiency Syndromes, Jurkat Cells, Lymphoma, NF-kappa B p50 Subunit, Piperidines, Polymorphism, Single Nucleotide, Primary Immunodeficiency Diseases, Sensitivity and Specificity},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2020.10.015},
	author = {Meitlis, Iana and Allenspach, Eric J and Bauman, Bradly M and Phan, Isabelle Q and Dabbah, Gina and Schmitt, Erica G and Camp, Nathan D and Torgerson, Troy R and Nickerson, Deborah A and Bamshad, Michael J and Hagin, David and Luthers, Christopher R and Stinson, Jeffrey R and Gray, Jessica and Lundgren, Ingrid and Church, Joseph A and Butte, Manish J and Jordan, Mike B and Aceves, Seema S and Schwartz, Daniella M and Milner, Joshua D and Schuval, Susan and Skoda-Smith, Suzanne and Cooper, Megan A and Starita, Lea M and Rawlings, David J and Snow, Andrew L and James, Richard G}
}
