LISASATTERLISA SATTER40.48284590000000-88.959195600000004671SATTER, LISAAssociate Professorprns:coAuthorOfcoauthor ofFaculty Rankprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasFacultyRankhas faculty rankprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:positionInDepartmentposition in departmentprns:positionInDivisionposition in divisionprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:similarTosimilar toprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierAddressvivo:address1address line 1vivo:addressCitycityvivo:addressPostalCodepostal codevivo:addressStatestate or provincevivo:authorInAuthorshipselected publicationsvivo:authorRankauthor rank in publicationAuthorshipDepartmentDivisionvivo:hasResearchArearesearch areasvivo:hrJobTitleHR job titleInformation Resourcevivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcevivo:mailingAddressmailing addressvivo:personInPositionpositionsPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonLeukemiaStem Cell TransplantationMD AndersonRICHARD ECHAMPLINRICHARD E CHAMPLIN8508CHAMPLIN, RICHARD EProfessorHAGOP MKANTARJIANHAGOP M KANTARJIAN8501KANTARJIAN, HAGOP MProfessorSRDANVERSTOVSEKSRDAN VERSTOVSEK8781VERSTOVSEK, SRDANProfessorJAVIERCHINENJAVIER CHINEN11027CHINEN, JAVIERProfessor27016801Netter P, Chan SK, Banerjee PP, Monaco-Shawver L, Noroski LM, Hanson IC, Forbes LR, Mace EM, Chinen J, Gaspar HB, Sleiman P, Hakonarson H, Klein C, Ehlayel MS, Orange JSThe Journal of allergy and clinical immunologyA novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism. J Allergy Clin Immunol. 2016 08; 138(2):599-601.e3.J Allergy Clin Immunol2016-03-23T00:00:002016A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.27048656Vece TJ, Watkin LB, Nicholas S, Canter D, Braun MC, Guillerman RP, Eldin KW, Bertolet G, McKinley S, de Guzman M, Forbes L, Chinn I, Orange JSJournal of clinical immunologyCopa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease. J Clin Immunol. 2016 05; 36(4):377-387.J Clin Immunol2016-04-05T00:00:002016Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease.Authorship 3163271174Professor10Assistant Professor54Instructor14Associate ProfessorAuthorship 3209106Authorship 32169426897303Morsheimer MM, Rychik J, Forbes L, Dodds K, Goldberg DJ, Sullivan K, Heimall JRThe journal of allergy and clinical immunology. In practiceRisk Factors and Clinical Significance of Lymphopenia in Survivors of the Fontan Procedure for Single-Ventricle Congenital Cardiac Disease. J Allergy Clin Immunol Pract. 2016 May-Jun; 4(3):491-6.J Allergy Clin Immunol Pract2016-02-18T00:00:002016Risk Factors and Clinical Significance of Lymphopenia in Survivors of the Fontan Procedure for Single-Ventricle Congenital Cardiac Disease.Authorship 325253527324887Wasserman RL, Lumry W, Harris J, Levy R, Stein M, Forbes L, Cunningham-Rundles C, Melamed I, Kobayashi AL, Du W, Kobayashi RJournal of clinical immunologyEfficacy, Safety, and Pharmacokinetics of a New 10?% Liquid Intravenous Immunoglobulin Containing High Titer Neutralizing Antibody to RSV and Other Respiratory Viruses in Subjects with Primary Immunodeficiency Disease. J Clin Immunol. 2016 08; 36(6):590-9.J Clin Immunol2016-06-20T00:00:002016Efficacy, Safety, and Pharmacokinetics of a New 10?% Liquid Intravenous Immunoglobulin Containing High Titer Neutralizing Antibody to RSV and Other Respiratory Viruses in Subjects with Primary Immunodeficiency Disease.Authorship 3280232527484032Yu H, Zhang VW, Stray-Pedersen A, Hanson IC, Forbes LR, de la Morena MT, Chinn IK, Gorman E, Mendelsohn NJ, Pozos T, Wiszniewski W, Nicholas SK, Yates AB, Moore LE, Berge KE, Sorte H, Bayer DK, ALZahrani D, Geha RS, Feng Y, Wang G, Orange JS, Lupski JR, Wang J, Wong LJThe Journal of allergy and clinical immunologyRapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. J Allergy Clin Immunol. 2016 10; 138(4):1142-1151.e2.J Allergy Clin Immunol2016-07-12T00:00:002016Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.TIPHANIEVOGELTIPHANIE VOGEL12343VOGEL, TIPHANIEAssistant Professor1102 BATESHouston, 77030TXAuthorship 6523091Authorship 65242927577878Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, R?dningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tj?nnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nord?y I, J?rgensen SF, Abrahamsen TG, ?verland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flat? B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JRThe Journal of allergy and clinical immunologyPrimary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.J Allergy Clin Immunol2016-07-16T00:00:002016Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.27722150Hajjar J, Hasan S, Forbes LR, Hemmige V, Orange JSFrontiers in pediatricsGastric Adenocarcinoma in a Patient with X-Linked Agammaglobulinemia and HIV: Case Report and Review of the Literature. Front Pediatr. 2016; 4:100.Front Pediatr2016-09-23T00:00:002016Gastric Adenocarcinoma in a Patient with X-Linked Agammaglobulinemia and HIV: Case Report and Review of the Literature.Authorship 67816628139313Weinacht KG, Charbonnier LM, Alroqi F, Plant A, Qiao Q, Wu H, Ma C, Torgerson TR, Rosenzweig SD, Fleisher TA, Notarangelo LD, Hanson IC, Forbes LR, Chatila TAThe Journal of allergy and clinical immunologyRuxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation. J Allergy Clin Immunol. 2017 May; 139(5):1629-1640.e2.J Allergy Clin Immunol2017-01-27T00:00:002017Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.Authorship 873441928667185Tangye SG, Forbes LR, Leiding J, Preece K, Kumar AR, Gambineri E, Milner JD, Cooper MA, Sepp?nen MClinical chemistryLow IgE Is Insufficiently Sensitive to Guide Genetic Testing of STAT3 Gain-of-Function Mutations. Clin Chem. 2017 09; 63(9):1539-1540.Clin Chem2017-06-30T00:00:002017Low IgE Is Insufficiently Sensitive to Guide Genetic Testing of STAT3 Gain-of-Function Mutations.Authorship 876674928767726Mahapatra S, Mace EM, Minard CG, Forbes LR, Vargas-Hernandez A, Duryea TK, Makedonas G, Banerjee PP, Shearer WT, Orange JSPloS oneHigh-resolution phenotyping identifies NK cell subsets that distinguish healthy children from adults. PLoS One. 2017; 12(8):e0181134.PLoS One2017-08-02T00:00:002017High-resolution phenotyping identifies NK cell subsets that distinguish healthy children from adults.Authorship 8801059Authorship 881658Authorship 8826093Authorship 8835617Authorship 88435233Authorship 8849505Authorship 8851941129241729Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing JJ, Nademi Z, Slatter MA, Ulloa ER, Shcherbina A, Roppelt A, Worth A, Silva J, Aiuti A, Murguia-Favela L, Speckmann C, Carneiro-Sampaio M, Fernandes JF, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Schulz A, Steinmann S, Notarangelo LD, Gambineri E, Lionetti P, Shearer WT, Forbes LR, Martinez C, Moshous D, Blanche S, Fisher A, Ruemmele FM, Tissandier C, Ouachee-Chardin M, Rieux-Laucat F, Cavazzana M, Qasim W, Lucarelli B, Albert MH, Kobayashi I, Alonso L, Diaz De Heredia C, Kanegane H, Lawitschka A, Seo JJ, Gonzalez-Vicent M, Diaz MA, Goyal RK, Sauer MG, Yesilipek A, Kim M, Yilmaz-Demirdag Y, Bhatia M, Khlevner J, Richmond Padilla EJ, Martino S, Montin D, Neth O, Molinos-Quintana A, Valverde-Fernandez J, Broides A, Pinsk V, Ballauf A, Haerynck F, Bordon V, Dhooge C, Garcia-Lloret ML, Bredius RG, Kalwak K, Haddad E, Seidel MG, Duckers G, Pai SY, Dvorak CC, Ehl S, Locatelli F, Goldman F, Gennery AR, Cowan MJ, Roncarolo MG, Bacchetta R, Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) ofThe Journal of allergy and clinical immunologyLong-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study. J Allergy Clin Immunol. 2018 03; 141(3):1036-1049.e5.J Allergy Clin Immunol2017-12-11T00:00:002017Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.29111217Vargas-Hern?ndez A, Mace EM, Zimmerman O, Zerbe CS, Freeman AF, Rosenzweig S, Leiding JW, Torgerson T, Altman MC, Schussler E, Cunningham-Rundles C, Chinn IK, Carisey AF, Hanson IC, Rider NL, Holland SM, Orange JS, Forbes LRThe Journal of allergy and clinical immunologyRuxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations. J Allergy Clin Immunol. 2018 06; 141(6):2142-2155.e5.J Allergy Clin Immunol2017-10-27T00:00:002017Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.29330011Ruiz-Garc?a R, Vargas-Hern?ndez A, Chinn IK, Angelo LS, Cao TN, Coban-Akdemir Z, Jhangiani SN, Meng Q, Forbes LR, Muzny DM, Allende LM, Ehlayel MS, Gibbs RA, Lupski JR, Uzel G, Orange JS, Mace EMThe Journal of allergy and clinical immunologyMutations in PI3K110d cause impaired natural killer cell function partially rescued by rapamycin treatment. J Allergy Clin Immunol. 2018 08; 142(2):605-617.e7.J Allergy Clin Immunol2018-01-10T00:00:002018Mutations in PI3K110d cause impaired natural killer cell function partially rescued by rapamycin treatment.29196075Ngwube A, Hanson IC, Orange J, Rider NL, Seeborg F, Shearer W, Noroski L, Nicholas S, Forbes L, Leung K, Sasa G, Naik S, Hegde M, Omer B, Ahmed N, Allen C, Gottschalk S, Wu MF, Liu H, Brenner M, Heslop H, Krance R, Martinez CBiology of blood and marrow transplantation : journal of the American Society for Blood and Marrow TransplantationOutcomes after Allogeneic Transplant in Patients with Wiskott-Aldrich Syndrome. Biol Blood Marrow Transplant. 2018 03; 24(3):537-541.Biol Blood Marrow Transplant2017-11-28T00:00:002017Outcomes after Allogeneic Transplant in Patients with Wiskott-Aldrich Syndrome.29590538Fabre A, Marchal S, Forbes LR, Vogel TP, Barlogis V, Triolo V, Rohrlich PS, B?rard E, Frankel D, Ambrosetti D, Soler C, Hoflack M, Baque M, Bosdure E, Baravalle M, Carsin A, Dubus JC, Giovannini-Chami LAmerican journal of respiratory and critical care medicineSTAT3 Gain of Function: A New Kid on the Block in Interstitial Lung Diseases. Am J Respir Crit Care Med. 2018 06 01; 197(11):e22-e23.Am J Respir Crit Care Med2018-06-01T00:00:002018STAT3 Gain of Function: A New Kid on the Block in Interstitial Lung Diseases.29630926Yanir AD, Hanson IC, Shearer WT, Noroski LM, Forbes LR, Seeborg FO, Nicholas S, Chinn I, Orange JS, Rider NL, Leung KS, Naik S, Carrum G, Sasa G, Hegde M, Omer BA, Ahmed N, Allen CE, Khaled Y, Wu MF, Liu H, Gottschalk SM, Heslop HE, Brenner MK, Krance RA, Martinez CABiology of blood and marrow transplantation : journal of the American Society for Blood and Marrow TransplantationHigh Incidence of Autoimmune Disease after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease. Biol Blood Marrow Transplant. 2018 08; 24(8):1643-1650.Biol Blood Marrow Transplant2018-04-06T00:00:002018High Incidence of Autoimmune Disease after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease.29632024Chinn IK, Eckstein OS, Peckham-Gregory EC, Goldberg BR, Forbes LR, Nicholas SK, Mace EM, Vogel TP, Abhyankar HA, Diaz MI, Heslop HE, Krance RA, Martinez CA, Nguyen TC, Bashir DA, Goldman JR, Stray-Pedersen A, Pedroza LA, Poli MC, Aldave-Becerra JC, McGhee SA, Al-Herz W, Chamdin A, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Cao TN, Hong DN, Gibbs RA, Lupski JR, Orange JS, McClain KL, Allen CEBloodGenetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018 07 05; 132(1):89-100.Blood2018-04-09T00:00:002018Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.NATALIACHAIMOWITZNATALIA CHAIMOWITZ13983CHAIMOWITZ, NATALIAInstructortrue1ProfessorProfessortrue1Associate ProfessorAssociate Professortrue1Assistant ProfessorAssistant ProfessorD007153Disorders1092380.818762Immunologic Deficiency Syndromes29805043Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B, Undiagnosed Diseases Network members, Zieba BA, K?ry S, Kr?ger E, Lupski JR, Bostwick BL, Orange JSAmerican journal of human geneticsHeterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 06 07; 102(6):1126-1142.Am J Hum Genet2018-05-24T00:00:002018Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.30092289Forbes LR, Vogel TP, Cooper MA, Castro-Wagner J, Schussler E, Weinacht KG, Plant AS, Su HC, Allenspach EJ, Slatter M, Abinun M, Lilic D, Cunningham-Rundles C, Eckstein O, Olbrich P, Guillerman RP, Patel NC, Demirdag YY, Zerbe C, Freeman AF, Holland SM, Szabolcs P, Gennery A, Torgerson TR, Milner JD, Leiding JWThe Journal of allergy and clinical immunologyJakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations. J Allergy Clin Immunol. 2018 11; 142(5):1665-1669.J Allergy Clin Immunol2018-08-06T00:00:002018Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.D016511Disorders471070.927454Severe Combined ImmunodeficiencyD051359Disorders861840.809244Lymphohistiocytosis, HemophagocyticD050796Chemicals & Drugs38311200.601372STAT3 Transcription Factor30317461Hartono SP, Vargas-Hern?ndez A, Ponsford MJ, Chinn IK, Jolles S, Wilson K, Forbes LRJournal of clinical immunologyNovel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency. J Clin Immunol. 2018 10; 38(7):753-756.J Clin Immunol2018-10-13T00:00:002018Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency.30299506Giovannini-Chami L, Vogel TP, Forbes LR, Fabre A, Trojani MC, Leroy S, Antunes O, Vincent-Mefitiot N, Hi?ronimus S, Baque-Juston M, Roux C, Tieuli? NRheumatology (Oxford, England)STAT3 gain of function: a new aetiology of severe rheumatic disease. Rheumatology (Oxford). 2019 02 01; 58(2):365-367.Rheumatology (Oxford)2019-02-01T00:00:002019STAT3 gain of function: a new aetiology of severe rheumatic disease.Department of PediatricsDepartment of Molecular & Human GeneticsPediatrics-RheumatologyMolecular & Human GeneticsPediatrics-Hem/Onc Cell & Gene ThePediatrics-PulmonaryBaylor College of MedicineCARIDADMARTINEZCARIDAD MARTINEZ0.000000000000000.000000000000001408MARTINEZ, CARIDADAssociate Professor4.457720.0109642277research areas2.677020.039409978coauthor of56.082210.715360similar to1171selected publicationsJAMESLUPSKIJAMES LUPSKI29.71073630000000-95.396604500000003140LUPSKI, JAMESProfessor30771411Volpi S, Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, D?ckers G, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG, Giliani S, Gold MS, Jacobsen EM, Jansen MH, King JR, Laxer RM, Lupski JR, Mace E, Marcenaro S, Maroofian R, Meijer AB, Niehues T, Notarangelo LD, Orange J, Pannicke U, Pearson C, Picco P, Quinn PJ, Schulz A, Seeborg F, Stray-Pedersen A, Tawamie H, van Leeuwen EMM, Aiuti A, Yeung R, Schwarz K, Kuijpers TWThe Journal of allergy and clinical immunologyA combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency. J Allergy Clin Immunol. 2019 06; 143(6):2296-2299.J Allergy Clin Immunol2019-02-13T00:00:002019A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.30825606Fabre A, Marchal S, Barlogis V, Mari B, Barbry P, Rohrlich PS, Forbes LR, Vogel TP, Giovannini-Chami LThe journal of allergy and clinical immunology. In practiceClinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review. J Allergy Clin Immunol Pract. 2019 Jul - Aug; 7(6):1958-1969.e9.J Allergy Clin Immunol Pract2019-02-27T00:00:002019Clinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review.30719430Staines Boone AT, Chinn IK, Alaez-Vers?n C, Yamazaki-Nakashimada MA, Carrillo-S?nchez K, Garc?a-Cruz MLH, Poli MC, Gonz?lez Serrano ME, Medina Torres EA, Muzquiz Zerme?o D, Forbes LR, Espinosa-Rosales FJ, Espinosa-Padilla SE, Orange JS, Lugo Reyes SOFrontiers in pediatricsFailing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature. Front Pediatr. 2018; 6:426.Front Pediatr2019-01-21T00:00:002019Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.31069200Chaimowitz NS, Branch J, Reyes A, Vargas-Hern?ndez A, Orange JS, Forbes LR, Ehlayel M, Purayil SC, Al-Nesf MA, Vogel TPFrontiers in pediatricsA Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome. Front Pediatr. 2019; 7:130.Front Pediatr2019-04-24T00:00:002019A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome.D000073659851260.89586Gain of Function Mutation31408058Rochat RH, Forbes LR, McKay SD, Starke JRThe Pediatric infectious disease journalFever and Knee Swelling in a 3-Year-Old Boy. Pediatr Infect Dis J. 2019 09; 38(9):979.Pediatr Infect Dis J2019-09-01T00:00:002019Fever and Knee Swelling in a 3-Year-Old Boy.31417880Aird A, Lagos M, Vargas-Hern?ndez A, Posey JE, Coban-Akdemir Z, Jhangiani S, Mace EM, Reyes A, King A, Cavagnaro F, Forbes LR, Chinn IK, Lupski JR, Orange JS, Poli MCFrontiers in pediatricsNovel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome. Front Pediatr. 2019; 7:303.Front Pediatr2019-07-30T00:00:002019Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome.true1Assistant ProfessorAssistant Professortrue1Assistant ProfessorAssistant ProfessorPediatrics-Immu, Allergy & Retrovir31600547Vargas-Hern?ndez A, Witalisz-Siepracka A, Prchal-Murphy M, Klein K, Mahapatra S, Al-Herz W, Mace EM, Carisey AF, Orange JS, Sexl V, Forbes LRThe Journal of allergy and clinical immunologyHuman signal transducer and activator of transcription 5b (STAT5b) mutation causes dysregulated human natural killer cell maturation and impaired lytic function. J Allergy Clin Immunol. 2020 01; 145(1):345-357.e9.J Allergy Clin Immunol2019-10-07T00:00:002019Human signal transducer and activator of transcription 5b (STAT5b) mutation causes dysregulated human natural killer cell maturation and impaired lytic function.32153572Chan AY, Leiding JW, Liu X, Logan BR, Burroughs LM, Allenspach EJ, Skoda-Smith S, Uzel G, Notarangelo LD, Slatter M, Gennery AR, Smith AR, Pai SY, Jordan MB, Marsh RA, Cowan MJ, Dvorak CC, Craddock JA, Prockop SE, Chandrakasan S, Kapoor N, Buckley RH, Parikh S, Chellapandian D, Oshrine BR, Bednarski JJ, Cooper MA, Shenoy S, Davila Saldana BJ, Forbes LR, Martinez C, Haddad E, Shyr DC, Chen K, Sullivan KE, Heimall J, Wright N, Bhatia M, Cuvelier GDE, Goldman FD, Meyts I, Miller HK, Seidel MG, Vander Lugt MT, Bacchetta R, Weinacht KG, Andolina JR, Caywood E, Chong H, de la Morena MT, Aquino VM, Shereck E, Walter JE, Dorsey MJ, Seroogy CM, Griffith LM, Kohn DB, Puck JM, Pulsipher MA, Torgerson TRFrontiers in immunologyHematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey. Front Immunol. 2020; 11:239.Front Immunol2020-02-21T00:00:002020Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.32392079Silva-Carmona M, Vogel TP, Marchal S, Guesmi M, Dubus JC, Leroy S, Fabre A, Barlogis V, Forbes LR, Giovannini-Chami LAmerican journal of respiratory and critical care medicineSuccessful Treatment of Interstitial Lung Disease in STAT3 Gain-of-Function Using JAK Inhibitors. Am J Respir Crit Care Med. 2020 09 15; 202(6):893-897.Am J Respir Crit Care Med2020-09-15T00:00:002020Successful Treatment of Interstitial Lung Disease in STAT3 Gain-of-Function Using JAK Inhibitors.32484799Kuhny M, Forbes LR, ?akan E, Vega-Loza A, Kostiuk V, Dinesh RK, Glauzy S, Stray-Pedersen A, Pezzi AE, Hanson IC, Vargas-Hernandez A, Xu ML, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Chinn IK, Schatz DG, Orange JS, Meffre EThe Journal of clinical investigationDisease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest. 2020 08 03; 130(8):4411-4422.J Clin Invest2020-08-03T00:00:002020Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.Authorship 992946432600996Joseph M, Chew WT, Seeborg F, Satter LF, Anvari S, Chinn IK, Davis CM, Gupta MR, Nicholas S, Noroski LM, James M, Deniskin R, Diaz VC, Lowe J, Lee GL, Craddock MF, Chan AJ, Rider NLThe journal of allergy and clinical immunology. In practiceIntralesional Corticosteroids as Adjunctive Therapy for Refractory Cutaneous Lesions in Chronic Granulomatous Disease. J Allergy Clin Immunol Pract. 2020 09; 8(8):2769-2770.J Allergy Clin Immunol Pract2020-06-27T00:00:002020Intralesional Corticosteroids as Adjunctive Therapy for Refractory Cutaneous Lesions in Chronic Granulomatous Disease.32647003Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Vargas-Hern?ndez A, Carisey AF, Fournier B, Anderson DE, Price S, Smelkinson M, Abou Chahla W, Forbes LR, Mace EM, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Orange JS, Cuvelier GDE, Al Hassani M, Al Kaabi N, Al Yafei Z, Jyonouchi S, Raje N, Caldwell JW, Huang Y, Burkhardt JK, Latour S, Chen B, ElGhazali G, Rao VK, Chinn IK, Lenardo MJScience (New York, N.Y.)HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science. 2020 07 10; 369(6500):202-207.Science2020-07-10T00:00:002020HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.Authorship 9952664Authorship 9952676Authorship 9952681Authorship 99526916Authorship 9952707Authorship 995271Authorship 9952729Authorship 995273Authorship 9952744Authorship 99527511Authorship 995276Authorship 995277Authorship 995278Authorship 995279Authorship 995280Authorship 99528152Authorship 99528210Authorship 995283Authorship 995284Authorship 995285Authorship 995286Authorship 9952875Authorship 9952881332268350Burroughs LM, Petrovic A, Brazauskas R, Liu X, Griffith LM, Ochs HD, Bleesing JJ, Edwards S, Dvorak CC, Chaudhury S, Prockop SE, Quinones R, Goldman FD, Quigg TC, Chandrakasan S, Smith AR, Parikh S, D?vila Salda?a BJ, Thakar MS, Phelan R, Shenoy S, Forbes LR, Martinez C, Chellapandian D, Shereck E, Miller HK, Kapoor N, Barnum JL, Chong H, Shyr DC, Chen K, Abu-Arja R, Shah AJ, Weinacht KG, Moore TB, Joshi A, DeSantes KB, Gillio AP, Cuvelier GDE, Keller MD, Rozmus J, Torgerson T, Pulsipher MA, Haddad E, Sullivan KE, Logan BR, Kohn DB, Puck JM, Notarangelo LD, Pai SY, Rawlings DJ, Cowan MJBloodExcellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report. 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Curr Opin Pediatr. 2019 12; 31(6):843-850.Curr Opin Pediatr2019-12-01T00:00:002019Human diseases caused by impaired signal transducer and activator of transcription and Janus kinase signaling.31376032Marsh RA, Leiding JW, Logan BR, Griffith LM, Arnold DE, Haddad E, Falcone EL, Yin Z, Patel K, Arbuckle E, Bleesing JJ, Sullivan KE, Heimall J, Burroughs LM, Skoda-Smith S, Chandrakasan S, Yu LC, Oshrine BR, Cuvelier GDE, Thakar MS, Chen K, Teira P, Shenoy S, Phelan R, Forbes LR, Chellapandian D, D?vila Salda?a BJ, Shah AJ, Weinacht KG, Joshi A, Boulad F, Quigg TC, Dvorak CC, Grossman D, Torgerson T, Graham P, Prasad V, Knutsen A, Chong H, Miller H, de la Morena MT, DeSantes K, Cowan MJ, Notarangelo LD, Kohn DB, Stenger E, Pai SY, Routes JM, Puck JM, Kapoor N, Pulsipher MA, Malech HL, Parikh S, Kang EM, submitted on behalf of the Primary Immune Deficiency Treatment ConsortiumJournal of clinical immunologyChronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT. 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In practiceMechanism-Based Precision Therapy for the Treatment of Primary Immunodeficiency and Primary Immunodysregulatory Diseases. J Allergy Clin Immunol Pract. 2019 03; 7(3):761-773.J Allergy Clin Immunol Pract2019-03-01T00:00:002019Mechanism-Based Precision Therapy for the Treatment of Primary Immunodeficiency and Primary Immunodysregulatory Diseases.30704805Vargas-Hern?ndez A, Forbes LRMolecular immunologyJAK/STAT proteins and their biological impact on NK cell development and function. Mol Immunol. 2019 11; 115:21-30.Mol Immunol2019-01-28T00:00:002019JAK/STAT proteins and their biological impact on NK cell development and function.30661124Vargas-Hern?ndez A, Forbes LRCurrent allergy and asthma reportsThe Impact of Immunodeficiency on NK Cell Maturation and Function. 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N Engl J Med. 2020 10 08; 383(15):1494-1496.N Engl J Med2020-10-08T00:00:002020STAT1 Gain of Function, Type 1 Diabetes, and Reversal with JAK Inhibition.true1InstructorInstructor33006109Dorsey MJ, Wright NAM, Chaimowitz NS, D?vila Salda?a BJ, Miller H, Keller MD, Thakar MS, Shah AJ, Abu-Arja R, Andolina J, Aquino V, Barnum JL, Bednarski JJ, Bhatia M, Bonilla FA, Butte MJ, Bunin NJ, Chandra S, Chaudhury S, Chen K, Chong H, Cuvelier GDE, Dalal J, DeFelice ML, DeSantes KB, Forbes LR, Gillio A, Goldman F, Joshi AY, Kapoor N, Knutsen AP, Kobrynski L, Lieberman JA, Leiding JW, Oshrine B, Patel KP, Prockop S, Quigg TC, Quinones R, Schultz KR, Seroogy C, Shyr D, Siegel S, Smith AR, Torgerson TR, Vander Lugt MT, Yu LC, Cowan MJ, Buckley RH, Dvorak CC, Griffith LM, Haddad E, Kohn DB, Logan B, Notarangelo LD, Pai SY, Puck J, Pulsipher MA, Heimall JJournal of clinical immunologyInfections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers. 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N Engl J Med. 2021 01 07; 384(1):93-94.N Engl J Med2021-01-07T00:00:002021More on STAT1 Gain of Function, Type 1 Diabetes, and JAK Inhibition. Reply.true1ProfessorProfessor34019630Martinez C, Ebstein F, Nicholas SK, De Guzman M, Forbes LR, Delmonte OM, Bosticardo M, Castagnoli R, Krance R, Notarangelo LD, Kr?ger E, Orange JS, Poli MCBloodHSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease. Blood. 2021 11 11; 138(19):1896-1901.Blood2021-11-11T00:00:002021HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease.34033983Knight V, Heimall JR, Chong H, Nandiwada SL, Chen K, Lawrence MG, Sadighi Akha AA, Kum?novics A, Jyonouchi S, Ngo SY, Vinh DC, Hagin D, Forbes Satter LR, Marsh RA, Chiang SCC, Willrich MAV, Frazer-Abel AA, Rider NLThe journal of allergy and clinical immunology. In practiceA Toolkit and Framework for Optimal Laboratory Evaluation of Individuals with Suspected Primary Immunodeficiency. J Allergy Clin Immunol Pract. 2021 09; 9(9):3293-3307.e6.J Allergy Clin Immunol Pract2021-05-24T00:00:002021A Toolkit and Framework for Optimal Laboratory Evaluation of Individuals with Suspected Primary Immunodeficiency.Authorship 1023788334159722Markovitz R, Owen N, Satter LF, Kirk S, Mahoney DH, Bertuch AA, Scaglia FAmerican journal of medical genetics. Part AExpansion of the clinical phenotype of GALE deficiency. Am J Med Genet A. 2021 10; 185(10):3118-3121.Am J Med Genet A2021-06-22T00:00:002021Expansion of the clinical phenotype of GALE deficiency.Authorship 10266047Authorship 1026605Authorship 10266067Authorship 10266071Authorship 1026608Authorship 102660934329649Forbes LR, Eckstein OS, Gulati N, Peckham-Gregory EC, Ozuah NW, Lubega J, El-Mallawany NK, Agrusa JE, Poli MC, Vogel TP, Chaimowitz NS, Rider NL, Mace EM, Orange JS, Caldwell JW, Aldave-Becerra JC, Jolles S, Saettini F, Chong HJ, Stray-Pedersen A, Heslop HE, Kamdar KY, Rouce RH, Muzny DM, Jhangiani SN, Gibbs RA, Coban-Akdemir ZH, Lupski JR, McClain KL, Allen CE, Chinn IKThe Journal of allergy and clinical immunologyGenetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. J Allergy Clin Immunol. 2022 02; 149(2):758-766.J Allergy Clin Immunol2021-07-28T00:00:002021Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.33367547Forbes LRBloodDistract NK cell killing: give them a fatty meal. Blood. 2020 12 24; 136(26):2969-2970.Blood2020-12-24T00:00:002020Distract NK cell killing: give them a fatty meal.7756012Cano A, Roquer JNeurologia (Barcelona, Spain)[Associations of intracranial meningioma and hypophysial adenoma]. Neurologia. 1995 Mar; 10(3):139.Neurologia1995-03-01T00:00:001995[Associations of intracranial meningioma and hypophysial adenoma].34461635Lin H, Scull BP, Goldberg BR, Abhyankar HA, Eckstein OE, Zinn DJ, Lubega J, Agrusa J, El Mallawaney N, Gulati N, Forbes L, Chinn I, Chakraborty R, Velasquez J, Goldman J, Bashir D, Lam F, Muscal E, Henry MM, Greenberg JN, Ladisch S, Hermiston ML, Meyer LK, Jeng M, Naqvi A, McClain K, Nguyen T, Wong H, Man TK, Jordan MB, Allen CEBlood advancesIFN-? signature in the plasma proteome distinguishes pediatric hemophagocytic lymphohistiocytosis from sepsis and SIRS. Blood Adv. 2021 09 14; 5(17):3457-3467.Blood Adv2021-09-14T00:00:002021IFN-? signature in the plasma proteome distinguishes pediatric hemophagocytic lymphohistiocytosis from sepsis and SIRS.true1Associate ProfessorAssociate Professor35067643Taylor MG, Nicholas SK, Forbes Satter LR, Martinez C, Cameron LHThe Pediatric infectious disease journalPlasma Metagenomic Sequencing Expedites Diagnosis of Disseminated BCG in an Infant With IKBKB Mutation. Pediatr Infect Dis J. 2022 05 01; 41(5):430-435.Pediatr Infect Dis J2022-05-01T00:00:002022Plasma Metagenomic Sequencing Expedites Diagnosis of Disseminated BCG in an Infant With IKBKB Mutation.35237791Stubbs LA, Szafron V, Forbes LR, Musick MA, Gillispie AE, Sauer HE, Smith VR, Fasipe TA, Munoz FM, Tejtel KS, Silva-Carmona M, Vogel TP, Muscal EHospital pediatricsSevere Pediatric COVID-19 Pneumonia Treated With Adjuvant Anakinra. Hosp Pediatr. 2022 05 01; 12(5):e162-e170.Hosp Pediatr2022-05-01T00:00:002022Severe Pediatric COVID-19 Pneumonia Treated With Adjuvant Anakinra.Authorship 105021317Authorship 10502141Authorship 10502152Authorship 1050216Authorship 1050217Authorship 1050218135024814Forbes Satter LRBloodMonogenically driven therapies: the new first line. Blood. 2022 01 13; 139(2):162-163.Blood2022-01-13T00:00:002022Monogenically driven therapies: the new first line.Authorship 106152117Authorship 10584545Authorship 1058756836228738Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hern?ndez A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Pruhov? ?, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gon?alo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, H?m?l?inen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A, STAT3 GOF Working Group members, Sepp?nen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LRThe Journal of allergy and clinical immunologyMonogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. 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Pediatr Blood Cancer. 2023 04; 70(4):e30144.Pediatr Blood Cancer2023-01-20T00:00:002023Pediatric autoimmune myelofibrosis: Experience from a large pediatric tertiary care center.36456360Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JMThe Journal of allergy and clinical immunologyThe diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. J Allergy Clin Immunol. 2023 02; 151(2):547-555.e5.J Allergy Clin Immunol2022-11-28T00:00:002022The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.36456361Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai SY, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O'Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD, Puck JMThe Journal of allergy and clinical immunologyThe diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. J Allergy Clin Immunol. 2023 02; 151(2):539-546.J Allergy Clin Immunol2022-11-28T00:00:002022The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.35671392Cuvelier GDE, Logan BR, Prockop SE, Buckley RH, Kuo CY, Griffith LM, Liu X, Yip A, Hershfield MS, Ayoub PG, Moore TB, Dorsey MJ, O'Reilly RJ, Kapoor N, Pai SY, Kapadia M, Ebens CL, Forbes Satter LR, Burroughs LM, Petrovic A, Chellapandian D, Heimall J, Shyr DC, Rayes A, Bednarski JJ, Chandra S, Chandrakasan S, Gillio AP, Madden L, Quigg TC, Caywood EH, D?vila Salda?a BJ, DeSantes K, Eissa H, Goldman FD, Rozmus J, Shah AJ, Vander Lugt MT, Thakar MS, Parrott RE, Martinez C, Leiding JW, Torgerson TR, Pulsipher MA, Notarangelo LD, Cowan MJ, Dvorak CC, Haddad E, Puck JM, Kohn DBBloodOutcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC. Blood. 2022 08 18; 140(7):685-705.Blood2022-08-18T00:00:002022Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC.Authorship 1063565236755813Smith MR, Satter LRF, Vargas-Hern?ndez AFrontiers in immunologySTAT5b: A master regulator of key biological pathways. Front Immunol. 2022; 13:1025373.Front Immunol2023-01-23T00:00:002023STAT5b: A master regulator of key biological pathways.36795451Forbes Satter LR, Martinez CBloodThe earlier, the better: RAG-deficient transplants. Blood. 2023 02 16; 141(7):686-687.Blood2023-02-16T00:00:002023The earlier, the better: RAG-deficient transplants.36843887Vogel TP, Leiding JW, Cooper MA, Forbes Satter LRFrontiers in pediatricsSTAT3 gain-of-function syndrome. Front Pediatr. 2022; 10:770077.Front Pediatr2023-02-09T00:00:002023STAT3 gain-of-function syndrome.Authorship 10716592Authorship 1071660Authorship 1071661Authorship 10716621Authorship 1071663110Authorship 107166423Authorship 1071665Authorship 1071666Authorship 1071667137390899Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cath?bras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarstr?m L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, K?rholz J, Kr?ger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO, Shcherbina A, Slatter MA, Sogkas G, Soler-Palacin P, Speckmann C, Stephan JL, Suarez F, Tommasini A, Tr?ck J, Uhlmann A, van Aerde KJ, van Montfrans J, von Bernuth H, Warnatz K, Williams T, Worth AJJ, Ip W, Picard C, Catherinot E, Nademi Z, Grimbacher B, Forbes Satter LR, Kracker S, Chandra A, Condliffe AM, Ehl S, European Society for Immunodeficiencies Registry Working PartyThe Journal of allergy and clinical immunologyActivated phosphoinositide 3-kinase d syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity. J Allergy Clin Immunol. 2023 10; 152(4):984-996.e10.J Allergy Clin Immunol2023-06-28T00:00:002023Activated phosphoinositide 3-kinase d syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.35469842Pelham SJ, Caldirola MS, Avery DT, Mackie J, Rao G, Gothe F, Peters TJ, Guerin A, Neumann D, Vokurkova D, Hwa V, Zhang W, Lyu SC, Chang I, Manohar M, Nadeau KC, Gaillard MI, Bezrodnik L, Iotova V, Zwirner NW, Gutierrez M, Al-Herz W, Goodnow CC, Vargas-Hern?ndez A, Forbes Satter LR, Hambleton S, Deenick EK, Ma CS, Tangye SGThe Journal of allergy and clinical immunologySTAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis. J Allergy Clin Immunol. 2022 10; 150(4):931-946.J Allergy Clin Immunol2022-04-22T00:00:002022STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis.35290615Raymond LS, Leiding J, Forbes-Satter LRClinical reviews in allergy & immunologyDiagnostic Modalities in Primary Immunodeficiency. Clin Rev Allergy Immunol. 2022 Aug; 63(1):90-98.Clin Rev Allergy Immunol2022-03-15T00:00:002022Diagnostic Modalities in Primary Immunodeficiency.Authorship 10722112Authorship 1074490937229767Watson A, Forbes Satter L, Reiland Sauceda A, Kellermayer R, Karam LBJournal of pediatric gastroenterology and nutritionNOD2 Polymorphisms May Direct a Crohn Disease Phenotype in Patients With Very Early-Onset Inflammatory Bowel Disease. J Pediatr Gastroenterol Nutr. 2023 12 01; 77(6):748-752.J Pediatr Gastroenterol Nutr2023-05-25T00:00:002023NOD2 Polymorphisms May Direct a Crohn Disease Phenotype in Patients With Very Early-Onset Inflammatory Bowel Disease.37352885Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LDLancet (London, England)Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium. Lancet. 2023 07 08; 402(10396):129-140.Lancet2023-06-20T00:00:002023Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.Authorship 1080400937793572Eissa H, Thakar MS, Shah AJ, Logan BR, Griffith LM, Dong H, Parrott RE, O'Reilly RJ, Dara J, Kapoor N, Forbes Satter L, Chandra S, Kapadia M, Chandrakasan S, Knutsen A, Jyonouchi SC, Molinari L, Rayes A, Ebens CL, Teira P, D?vila Salda?a BJ, Burroughs LM, Chaudhury S, Chellapandian D, Gillio AP, Goldman F, Malech HL, DeSantes K, Cuvelier GDE, Rozmus J, Quinones R, Yu LC, Broglie L, Aquino V, Shereck E, Moore TB, Vander Lugt MT, Mousallem TI, Oved JH, Dorsey M, Abdel-Azim H, Martinez C, Bleesing JH, Prockop S, Kohn DB, Bednarski JJ, Leiding J, Marsh RA, Torgerson T, Notarangelo LD, Pai SY, Pulsipher MA, Puck JM, Dvorak CC, Haddad E, Buckley RH, Cowan MJ, Heimall JThe Journal of allergy and clinical immunologyPosttransplantation late complications increase over time for patients with SCID: A?Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study. J Allergy Clin Immunol. 2024 01; 153(1):287-296.J Allergy Clin Immunol2023-10-02T00:00:002023Posttransplantation late complications increase over time for patients with SCID: A?Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study.Authorship 1089289838367737Abraham RS, Basu A, Heimall JR, Dunn E, Yip A, Kapadia M, Kapoor N, Satter LF, Buckley R, O'Reilly R, Cuvelier GDE, Chandra S, Bednarski J, Chaudhury S, Moore TB, Haines H, D?vila Salda?a BJ, Chellapandian D, Rayes A, Chen K, Caywood E, Chandrakasan S, Lugt MTV, Ebens C, Teira P, Shereck E, Miller H, Aquino V, Eissa H, Yu LC, Gillio A, Madden L, Knutsen A, Shah AJ, DeSantes K, Barnum J, Broglie L, Joshi AY, Kleiner G, Dara J, Prockop S, Martinez C, Mousallem T, Oved J, Burroughs L, Marsh R, Torgerson TR, Leiding JW, Pai SY, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Cowan MJ, Puck J, Dvorak CC, Haddad EClinical immunology (Orlando, Fla.)Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia. Clin Immunol. 2024 Apr; 261:109942.Clin Immunol2024-02-15T00:00:002024Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia.true1ProfessorProfessortrue1ProfessorProfessortrue1ProfessorProfessorMANUELSILVA CARMONAMANUEL SILVA CARMONA7169SILVA CARMONA, MANUELAssistant ProfessorIVANCHINNIVAN CHINN7839CHINN, IVANAssistant Professor