Update on the use of immunoglobulin in human disease: A review of evidence von Perez, Elena E., MD, PhD, Orange, Jordan S., MD, PhD, Bonilla, Francisco, MD, PhD, Chinen, Javier, MD, PhD, Chinn, Ivan K., MD, Dorsey, Morna, MD, MMSc, El-Gamal, Yehia, MD, PhD, Harville, Terry O., MD, PhD, Hossny, Elham, MD, PhD, Mazer, Bruce, MD, Nelson, Robert, MD, Secord, Elizabeth, MD, PhD, Jordan, Stanley C., MD, Stiehm, E. Richard, MD, Vo, Ashley A., PharmD, Ballow, Mark, MD

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Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING von Konno, Hiroyasu, Chinn, Ivan K., Hong, Diana, Orange, Jordan S., Lupski, James R., Mendoza, Alejandra, Pedroza, Luis A., Barber, Glen N.

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PI Prob: A risk prediction and clinical guidance system for evaluating patients with recurrent infections von Rider, Nicholas L, Cahill, Gina, Motazedi, Tina, Wei, Lei, Kurian, Ashok, Noroski, Lenora M, Seeborg, Filiz O, Chinn, Ivan K, Roberts, Kirk

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Tactile training facilitates infants' ability to reach to targets on the body von Somogyi, Eszter, Hamilton, Mollie, Chinn, Lisa K., Jacquey, Lisa, Heed, Tobias, Hoffmann, Matej, Lockman, Jeffrey J., Fagard, Jacqueline, O'Regan, J. Kevin

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Morphokinetics of human blastocyst expansion in vitro von Huang, TTF, Chinn, K, Kosasa, T, Ahn, HJ, Kessel, B

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Auditory brainstem response deficits in learning disorders and developmental language disorder: a systematic review and meta-analysis von Chinn, Lisa K., Zhukova, Marina A., Kroeger, Ryan J., Ledesma, Leandro M., Cavitt, Joslyn E., Grigorenko, Elena L.

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Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development von Mustillo, Peter J., Sullivan, Kathleen E., Chinn, Ivan K., Notarangelo, Luigi D., Haddad, Elie, Davies, E. Graham, de la Morena, Maria Teresa, Hartog, Nicholas, Yu, Joyce E., Hernandez-Trujillo, Vivian P., Ip, Winnie, Franco, Jose, Gambineri, Eleonora, Hickey, Scott E., Varga, Elizabeth, Markert, M. Louise

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Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID von Kuhny, Marcel, Forbes, Lisa R, Çakan, Elif, Vega-Loza, Andrea, Kostiuk, Valentyna, Dinesh, Ravi K, Glauzy, Salomé, Stray-Pedersen, Asbjorg, Pezzi, Ashley E, Hanson, I Celine, Vargas-Hernandez, Alexander, Xu, Mina LuQuing, Coban-Akdemir, Zeynep H, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, Chinn, Ivan K, Schatz, David G, Orange, Jordan S, Meffre, Eric

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Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder von Keller, Michael D., MD, Pandey, Rahul, PhD, Li, Dong, PhD, Glessner, Joseph, PhD, Tian, Lifeng, PhD, Henrickson, Sarah E., MD, PhD, Chinn, Ivan K., MD, Monaco-Shawver, Linda, BSc, Heimall, Jennifer, MD, Hou, Cuiping, BSc, Otieno, Frederick G., MS, Jyonouchi, Soma, MD, Calabrese, Leonard, DO, van Montfrans, Joris, MD, Orange, Jordan S., MD, PhD, Hakonarson, Hakon, MD, PhD

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Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency von Hartono, Stella P., Vargas-Hernández, Alexander, Ponsford, Mark J., Chinn, Ivan K., Jolles, Stephen, Wilson, Keith, Forbes, Lisa R.

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Morphokinetics of Blastocyst Expansion in the Mouse is Similar to Human Embryos: An Embryoscope Study von Chinn, K, Huang, T.T.F

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Development of Infant Reaching Strategies to Tactile Targets on the Face von Chinn, Lisa K, Noonan, Claire F, Hoffmann, Matej, Lockman, Jeffrey J

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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome von Poli, M. Cecilia, Ebstein, Frédéric, Nicholas, Sarah K., de Guzman, Marietta M., Forbes, Lisa R., Chinn, Ivan K., Mace, Emily M., Vogel, Tiphanie P., Carisey, Alexandre F., Benavides, Felipe, Coban-Akdemir, Zeynep H., Gibbs, Richard A., Jhangiani, Shalini N., Muzny, Donna M., Carvalho, Claudia M.B., Schady, Deborah A., Jain, Mahim, Rosenfeld, Jill A., Emrick, Lisa, Lewis, Richard A., Lee, Brendan, Zieba, Barbara A., Küry, Sébastien, Krüger, Elke, Lupski, James R., Bostwick, Bret L., Orange, Jordan S.

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Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease-A Serious Cause of Mortality von Squire, Jacqueline D, Vazquez, Stephanie N, Chan, Angela, Smith, Michele E, Chellapandian, Deepak, Vose, Laura, Teppa, Beatriz, Hanson, I Celine, Chinn, Ivan K, Forbes-Satter, Lisa, Seeborg, Filiz O, Nicholas, Sarah K, Martinez, Caridad A, Allen, Carl E, Connors, Thomas J, Satwani, Prakash, Shtessel, Maria, Ale, Hanadys, Noroski, Lenora M, Rider, Nicholas L, Milner, Joshua D, Leiding, Jennifer W

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Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia von Conte, Matilde I, Poli, M Cecilia, Taglialatela, Angelo, Leuzzi, Giuseppe, Chinn, Ivan K, Salinas, Sandra A, Rey-Jurado, Emma, Olivares, Nixa, Veramendi-Espinoza, Liz, Ciccia, Alberto, Lupski, James R, Aldave Becerra, Juan Carlos, Mace, Emily M, Orange, Jordan S

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Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature von Contreras, Josefina Longeri, Ladino, Mabel A, Aránguiz, Katherine, Mendez, Gonzalo P, Coban-Akdemir, Zeynep, Yuan, Bo, Gibbs, Richard A, Burrage, Lindsay C, Lupski, James R, Chinn, Ivan K, Vogel, Tiphanie P, Orange, Jordan S, Poli, M Cecilia

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Thymus transplantation in complete DiGeorge anomaly von Markert, M. Louise, Devlin, Blythe H., Chinn, Ivan K., McCarthy, Elizabeth A.

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Hypoxia-inducible lentiviral gene expression in engineered human macrophages von Chinn, Harrison K, Gardell, Jennifer L, Matsumoto, Lisa R, Labadie, Kevin P, Mihailovic, Tara N, Lieberman, Nicole A P, Davis, Amira, Pillarisetty, Venu G, Crane, Courtney A

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Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency von Saettini, Francesco, Poli, Cecilia, Vengoechea, Jaime, Bonanomi, Sonia, Orellana, Julio C., Fazio, Grazia, Rodriguez, Fred H., Noguera, Loreani P., Booth, Claire, Jarur-Chamy, Valentina, Shams, Marissa, Iascone, Maria, Vukic, Maja, Gasperini, Serena, Quadri, Manuel, Barroeta Seijas, Amairelys, Rivers, Elizabeth, Mauri, Mario, Badolato, Raffaele, Cazzaniga, Gianni, Bugarin, Cristina, Gaipa, Giuseppe, Kroes, Wilma G.M., Moratto, Daniele, van Oostaijen-ten Dam, Monique M., Baas, Frank, van der Maarel, Silvère, Piazza, Rocco, Coban-Akdemir, Zeynep H., Lupski, James R., Yuan, Bo, Chinn, Ivan K., Daxinger, Lucia, Biondi, Andrea

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Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles von Coban-Akdemir, Zeynep, White, Janson J., Song, Xiaofei, Jhangiani, Shalini N., Fatih, Jawid M., Gambin, Tomasz, Bayram, Yavuz, Chinn, Ivan K., Karaca, Ender, Punetha, Jaya, Poli, Cecilia, Boerwinkle, Eric, Shaw, Chad A., Orange, Jordan S., Gibbs, Richard A., Lappalainen, Tuuli, Lupski, James R., Carvalho, Claudia M.B.

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