@article {731,
	title = {A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.},
	journal = {J Allergy Clin Immunol},
	volume = {143},
	year = {2019},
	month = {2019 Jun},
	pages = {2296-2299},
	issn = {1097-6825},
	doi = {10.1016/j.jaci.2019.02.003},
	author = {Volpi, Stefano and Cicalese, Maria Pia and Tuijnenburg, Paul and Tool, Anton T J and Cuadrado, Eloy and Abu-Halaweh, Marwan and Ahanchian, Hamid and Alzyoud, Raed and Akdemir, Zeynep Coban and Barzaghi, Federica and Blank, Alexander and Boisson, Bertrand and Bottino, Cristina and Brigida, Immacolata and Caorsi, Roberta and Casanova, Jean-Laurent and Chiesa, Sabrina and Chinn, Ivan Kingyue and D{\"u}ckers, Gregor and Enders, Anselm and Erichsen, Hans Christian and Forbes, Lisa R and Gambin, Tomasz and Gattorno, Marco and Karimiani, Ehsan Ghayoor and Giliani, Silvia and Gold, Michael S and Jacobsen, Eva-Maria and Jansen, Machiel H and King, Jovanka R and Laxer, Ronald M and Lupski, James R and Mace, Emily and Marcenaro, Stefania and Maroofian, Reza and Meijer, Alexander B and Niehues, Tim and Notarangelo, Luigi D and Orange, Jordan and Pannicke, Ulrich and Pearson, Chris and Picco, Paolo and Quinn, Patrick J and Schulz, Ansgar and Seeborg, Filiz and Stray-Pedersen, Asbj{\o}rg and Tawamie, Hasan and van Leeuwen, Ester M M and Aiuti, Alessandro and Yeung, Rae and Schwarz, Klaus and Kuijpers, Taco W}
}
@article {405,
	title = {Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.},
	journal = {J Clin Invest},
	volume = {127},
	year = {2017},
	month = {2017 Mar 01},
	pages = {912-928},
	abstract = {<p>Steroid-resistant nephrotic syndrome (SRNS) causes 15\% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30\% of individuals with SRNS whose symptoms manifest before 25 years of age. However, in many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequencing to identify recessive causes of SRNS. In 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects, we identified 9 different recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase. All mutations resulted in reduced or absent SGPL1 protein and/or enzyme activity. Overexpression of cDNA representing SGPL1 mutations resulted in subcellular mislocalization of SGPL1. Furthermore, expression of WT human SGPL1 rescued growth of SGPL1-deficient dpl1Δ yeast strains, whereas expression of disease-associated variants did not. Immunofluorescence revealed SGPL1 expression in mouse podocytes and mesangial cells. Knockdown of Sgpl1 in rat mesangial cells inhibited cell migration, which was partially rescued by VPC23109, an S1P receptor antagonist. In Drosophila, Sply mutants, which lack SGPL1, displayed a phenotype reminiscent of nephrotic syndrome in nephrocytes. WT Sply, but not the disease-associated variants, rescued this phenotype. Together, these results indicate that SGPL1 mutations cause a syndromic form of SRNS.</p>},
	keywords = {Aldehyde-Lyases, Animals, Cell Line, Cell Movement, Drosophila melanogaster, Drosophila Proteins, Female, Humans, Ichthyosis, Lamellar, Male, Mesangial Cells, Mice, Mice, Knockout, Mutation, Nephrotic Syndrome, Protein Transport, Rats},
	issn = {1558-8238},
	doi = {10.1172/JCI89626},
	author = {Lovric, Svjetlana and Goncalves, Sara and Gee, Heon Yung and Oskouian, Babak and Srinivas, Honnappa and Choi, Won-Il and Shril, Shirlee and Ashraf, Shazia and Tan, Weizhen and Rao, Jia and Airik, Merlin and Schapiro, David and Braun, Daniela A and Sadowski, Carolin E and Widmeier, Eugen and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Girik, Vladimir and Capitani, Guido and Suh, Jung H and Lachauss{\'e}e, No{\"e}lle and Arrondel, Christelle and Patat, Julie and Gribouval, Olivier and Furlano, Monica and Boyer, Olivia and Schmitt, Alain and Vuiblet, Vincent and Hashmi, Seema and Wilcken, Rainer and Bernier, Francois P and Innes, A Micheil and Parboosingh, Jillian S and Lamont, Ryan E and Midgley, Julian P and Wright, Nicola and Majewski, Jacek and Zenker, Martin and Schaefer, Franz and Kuss, Navina and Greil, Johann and Giese, Thomas and Schwarz, Klaus and Catheline, Vilain and Schanze, Denny and Franke, Ingolf and Sznajer, Yves and Truant, Anne S and Adams, Brigitte and D{\'e}sir, Julie and Biemann, Ronald and Pei, York and Ars, Elisabet and Lloberas, Nuria and Madrid, Alvaro and Dharnidharka, Vikas R and Connolly, Anne M and Willing, Marcia C and Cooper, Megan A and Lifton, Richard P and Simons, Matias and Riezman, Howard and Antignac, Corinne and Saba, Julie D and Hildebrandt, Friedhelm}
}
