Morna Dorsey, MD, MS
1. Optimizing diagnosis and care of patients with primary immunodeficiency
2. Investigating the psychosocial impact of primary immunodeficiency on patients and families
3. Establishing treatment for patients with food allergy and eosinophilic disorders
Leiding JW, Arnold DE, Parikh SH, Logan BR, Marsh RA, Griffith LM, Wu R, Kidd S, Mallhi KK, Chellapandian D, Si Lim S, Grunebaum E, Falcone EL, Murguia-Favela L, Grossman D, Prasad VK, Heimall JR, Touzot F, Burroughs L, Bleesing J, Kapoor N, Dara J, Williams O, Kapadia M, Oshrine BR, Bednarski JJ, Rayes A, Chong H, Cuvelier GDE, Forbes Satter LR, Martinez C, Vander Lugt MT, Yu LC, Chandrakasan S, Joshi A, Prockop SE, Dávila Saldaña BJ, Aquino V, Broglie L, Ebens CL, Madden LM, DeSantes K, Milner J, Rangarajan HG, Shah A, Gilio AP, Knutsen AP, Miller HK, Moore TB, Graham P, Bauchat A, Bunin NJ, Teira P, Petrovic A, Chandra S, Abdel-Azim H, Dorsey M, Birbrayer O, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson TR, Malech HL, Kang EM. Genotype, Oxidase Status, and Preceding Infection or Autoinflammation Do Not Affect Allogeneic HCT Outcomes for CGD. Blood 2023. PMID: 37562003
Dorsey MJ, Rubinstein A, Lehman H, Fausnight T, Wiley JM, Haddad E. Correction to: PEGylated Recombinant Adenosine Deaminase Maintains Detoxification and Lymphocyte Counts in Patients with ADA-SCID. Journal of clinical immunology 2023. PMID: 37294519
Greenhawt M, Sindher SB, Wang J, O'Sullivan M, du Toit G, Kim EH, Albright D, Anvari S, Arends N, Arkwright PD, Bégin P, Blumchen K, Bourrier T, Brown-Whitehorn T, Cassell H, Chan ES, Ciaccio CE, Deschildre A, Divaret-Chauveau A, Dorris SL, Dorsey MJ, Eiwegger T, Erlewyn-Lajeunesse M, Fleischer DM, Ford LS, Garcia-Lloret M, Giovannini-Chami L, Hourihane JO, Jay N, Jones SM, Kerns LA, Kloepfer KM, Leonard S, Lezmi G, Lieberman JA, Lomas J, Makhija M, Parrish C, Peake J, Perrett KP, Petroni D, Pfützner W, Pongracic JA, Quinn P, Robison RG, Sanders G, Schneider L, Sharma HP, Trujillo J, Turner PJ, Tuttle K, Upton JE, Varshney P, Vickery BP, Vogelberg C, Wainstein B, Wood RA, Bee KJ, Campbell DE, Green TD, Rouissi R, Peillon A, Bahnson HT, Bois T, Sampson HA, Burks AW. Phase 3 Trial of Epicutaneous Immunotherapy in Toddlers with Peanut Allergy. The New England journal of medicine 2023. PMID: 37163622
Dorsey MJ, Condino-Neto A. Improving Access to Therapy for Patients With Inborn Errors of Immunity: A Call to Action. The journal of allergy and clinical immunology. In practice 2023. PMID: 37119982
Dorsey MJ, Rubinstein A, Lehman H, Fausnight T, Wiley JM, Haddad E. PEGylated Recombinant Adenosine Deaminase Maintains Detoxification and Lymphocyte Counts in Patients with ADA-SCID. Journal of clinical immunology 2023. PMID: 36840835
Forlanini F, Chan A, Dara J, Dvorak CC, Cowan MJ, Puck JM, Dorsey MJ. Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders. Journal of clinical immunology 2022. PMID: 36495401
Cuvelier GDE, Logan BR, Prockop S, Buckley RH, Kuo CY, Griffith LM, Liu X, Yip A, Hershfield M, Ayoub P, Moore TB, Dorsey M, O'Reilly RJ, Kapoor N, Pai SY, Kapadia M, Ebens CL, Forbes Satter LR, Burroughs L, Petrovic A, Chellapandian D, Heimall J, Shyr D, Rayes A, Bednarski JJ, Chandra S, Chandrakasan S, Gilio AP, Madden LM, Quigg TC, Caywood EH, Dávila Saldaña BJ, DeSantes K, Eissa H, Goldman FD, Rozmus J, Shah A, Vander Lugt MT, Thakar MS, Parrott RE, Martinez CA, Leiding JW, Torgerson TR, Pulsipher MA, Notarangelo LD, Cowan MJ, Dvorak CC, Haddad E, Puck JM, Kohn DB. Outcomes Following Treatment for Adenosine Deaminase Deficient Severe Combined Immunodeficiency: A Report from the PIDTC. 2022. PMID: 35671392
Geier CB, Ellison M, Cruz R, Pawar S, Leiss-Piller A, Zmajkovicova K, McNulty SM, Yilmaz M, Evans MO, Gordon S, Ujhazi B, Wiest I, Abolhassani H, Aghamohammadi A, Barmettler S, Bhar S, Bondarenko A, Bolyard AA, Buchbinder D, Cada M, Cavieres M, Connelly JA, Dale DC, Deordieva E, Dorsey MJ, Drysdale SB, Ehl S, Elfeky R, Fioredda F, Firkin F, F?rster-Waldl E, Geng B, Goda V, Gonzalez-Granado L, Grunebaum E, Grzesk E, Henrickson SE, Hilfanova A, Hiwatari M, Imai C, Ip W, Jyonouchi S, Kanegane H, Kawahara Y, Khojah AM, Kim VH, Kojic M, Koltan S, Krivan G, Langguth D, Lau YL, Leung D, Miano M, Mersyanova I, Mousallem T, Muskat M, Naoum FA, Noronha SA, Ouederni M, Ozono S, Richmond GW, Sakovich I, Salzer U, Schuetz C, Seeborg FO, Sharapova SO, Sockel K, Volokha A, von Bonin M, Warnatz K, Wegehaupt O, Weinberg GA, Wong KJ, Worth A, Yu H, Zharankova Y, Zhao X, Devlin L, Badarau A, Csomos K, Keszei M, Pereira J, Taveras AG, Beaussant-Cohen SL, Ong MS, Shcherbina A, Walter JE. Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients. Journal of clinical immunology 2022. PMID: 35947323
Lloyd-McLennan AM, Shimano KA, Dorsey M, Cordoro KM. Eczema and Petechiae in an Infant. Pediatrics in review 2022. PMID: 35773537
Dorsey M, Wright NAM, Chaimowitz NS, Dávila Saldaña 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, Burroughs LM, Chandra S, Chaudhury S, Chen K, Chong H, Cuvelier G, 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 J. Correction to: Infections in Infants with SCID: Isolation, Infection Screening and Prophylaxis in PIDTC Centers. Journal of clinical immunology 2021. PMID: 33274413
Buchbinder D, Walter JE, Butte MJ, Chan WY, Chitty Lopez M, Dimitriades VR, Dorsey MJ, Nugent DJ, Puck JM, Singh J, Collins CA. When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a Case-Based Review. Journal of clinical immunology 2021. PMID: 33411155
Vickery BP, Vereda A, Nilsson C, du Toit G, Shreffler WG, Burks AW, Jones SM, Fern?ndez-Rivas M, Bl?mchen K, O'B Hourihane J, Beyer K, Anagnostou A, Assa'ad AH, Ben-Shoshan M, Bird JA, Carr TF, Carr WW, Casale TB, Chong HJ, Ciaccio CE, Dorsey MJ, Fineman SM, Fritz SB, Greiner AN, Greos LS, Hampel FC, Ib??ez MD, Jeong DK, Johnston DT, Kachru R, Kim EH, Lanser BJ, Leonard SA, Maier MC, Mansfield LE, Muraro A, Ohayon JA, Oude Elberink JNG, Petroni DH, Pongracic JA, Portnoy JM, Rachid R, Rupp NT, Sanders GM, Sharma HP, Sharma V, Sher ER, Sher L, Sindher SB, Siri D, Spergel JM, Sprikkelman AB, Sussman GL, Tsoumani M, Varshney P, Vitalpur G, Wang J, Yang WH, Zubeldia JM, Smith A, Ryan R, Adelman DC. Continuous and Daily Oral Immunotherapy for Peanut Allergy: Results from a 2-Year Open-Label Follow-On Study. The journal of allergy and clinical immunology. In practice 2020. PMID: 33359589
Forlanini F, Dara J, Dvorak CC, Cowan MJ, Puck JM, Dorsey MJ. Unknown cytomegalovirus serostatus in primary immunodeficiency disorders: A new category of transplant recipients. Transplant infectious disease : an official journal of the Transplantation Society 2020. PMID: 33169931
Rubio-Gonzalez B, Frieden IJ, McCalmont TH, Dorsey M, Funk T, Pincus LB. Folliculotropic mycosis fungoides driven by DOCK8 immunodeficiency syndrome. Pediatric dermatology 2020. PMID: 33099799
Dorsey MJ, Wright NAM, Chaimowitz NS, Dávila Saldaña 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 J. Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers. Journal of clinical immunology 2020. PMID: 33006109
LaHue SC, Anderson A, Krysko KM, Rutatangwa A, Dorsey MJ, Hale T, Mahadevan U, Rogers EE, Rosenstein MG, Bove R. Transfer of monoclonal antibodies into breastmilk in neurologic and non-neurologic diseases. Neurology(R) neuroimmunology & neuroinflammation 2020. PMID: 32461351
Chan 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 TR. Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey. Frontiers in immunology 2020. PMID: 32153572
Kohn DB, Booth C, Kang EM, Pai SY, Shaw KL, Santilli G, Armant M, Buckland KF, Choi U, De Ravin SS, Dorsey MJ, Kuo CY, Leon-Rico D, Rivat C, Izotova N, Gilmour K, Snell K, Dip JX, Darwish J, Morris EC, Terrazas D, Wang LD, Bauser CA, Paprotka T, Kuhns DB, Gregg J, Raymond HE, Everett JK, Honnet G, Biasco L, Newburger PE, Bushman FD, Grez M, Gaspar HB, Williams DA, Malech HL, Galy A, Thrasher AJ, Net4CGD consortium. Lentiviral gene therapy for X-linked chronic granulomatous disease. Nature medicine 2020. PMID: 31988463
Seghezzo SP, Dvorak CC, Cowan MJ, Puck JM, Dorsey MJ. Extended Follow-up After Hematopoietic Cell Transplantation for I?Ba Deficiency with Disseminated Mycobacterium avium Infection. Journal of clinical immunology 2019. PMID: 31834557
Chinn IK, Chan AY, Chen K, Chou J, Dorsey MJ, Hajjar J, Jongco AM, Keller MD, Kobrynski LJ, Kumanovics A, Lawrence MG, Leiding JW, Lugar PL, Orange JS, Patel K, Platt CD, Puck JM, Raje N, Romberg N, Slack MA, Sullivan KE, Tarrant TK, Torgerson TR, Walter JE. Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology. The Journal of allergy and clinical immunology 2019. PMID: 31568798
Balkin DM, Poranki M, Forester CM, Dorsey MJ, Slavotinek A, Pomerantz JH. TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia. Molecular genetics & genomic medicine 2019. PMID: 31350873
Dvorak CC, Long-Boyle J, Dara J, Melton A, Shimano KA, Huang JN, Puck JM, Dorsey MJ, Facchino J, Chang CK, Cowan MJ. Low Exposure Busulfan Conditioning to Achieve Sufficient Multilineage Chimerism in Patients with Severe Combined Immunodeficiency. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2019. PMID: 30876930
Amatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA, Agarwal-Hashmi R, Aznar CP, Butte MJ, Cowan MJ, Dorsey MJ, Dvorak CC, Kapoor N, Kohn DB, Markert ML, Moore TB, Naides SJ, Sciortino S, Feuchtbaum L, Koupaei RA, Puck JM. Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017. Pediatrics 2019. PMID: 30683812
Perelygina L, Buchbinder D, Dorsey MJ, Eloit M, Hauck F, Hautala T, Moshous D, Uriarte I, Deripapa E, Icenogle J, Sullivan KE. Outcomes for Nitazoxanide Treatment in a Case Series of Patients with Primary Immunodeficiencies and Rubella Virus-Associated Granuloma. Journal of clinical immunology 2019. PMID: 30680653
PALISADE Group of Clinical Investigators , Vickery BP, Vereda A, Casale TB, Beyer K, du Toit G, Hourihane JO, Jones SM, Shreffler WG, Marcantonio A, Zawadzki R, Sher L, Carr WW, Fineman S, Greos L, Rachid R, Ibáñez MD, Tilles S, Assa’ad AH, Nilsson C, Rupp N, Welch MJ, Sussman G, Chinthrajah S, Blumchen K, Sher E, Spergel JM, Leickly FE, Zielen S, Wang J, Sanders GM, Wood RA, Cheema A, Bindslev-Jensen C, Leonard S, Kachru R, Johnston DT, Hampel FC, Kim EH, Anagnostou A, Pongracic JA, Ben-Shoshan M, Sharma HP, Stillerman A, Windom HH, Yang WH, Muraro A, Zubeldia JM, Sharma V, Dorsey MJ, Chong HJ, Ohayon J, Bird JA, Carr TF, Siri D, Fernández-Rivas M, Jeong DK, Fleischer DM, Lieberman JA, Dubois AEJ, Tsoumani M, Ciaccio CE, Portnoy JM, Mansfield LE, Fritz SB, Lanser BJ, Matz J, Oude Elberink HNG, Varshney P, Dilly SG, Adelman DC, Burks AW. AR101 Oral Immunotherapy for Peanut Allergy. The New England journal of medicine 2018. PMID: 30449234
Dorsey MJ, Puck JM. Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned. Immunology and allergy clinics of North America 2018. PMID: 30466767
Yoo J, Halley MC, Lown EA, Yank V, Ort K, Cowan MJ, Dorsey MJ, Smith H, Iyengar S, Scalchunes C, Mangurian C. Supporting caregivers during hematopoietic cell transplantation for children with primary immunodeficiency disorders. The Journal of allergy and clinical immunology 2018. PMID: 31178019
Dvorak CC, Puck JM, Wahlstrom JT, Dorsey M, Melton A, Cowan MJ. Neurologic event-free survival demonstrates a benefit for SCID patients diagnosed by newborn screening. Blood advances 2017. PMID: 29296816
Dorsey M, Puck J. Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management. International journal of neonatal screening 2017. PMID: 31304419
Dorsey MJ, Dvorak CC, Cowan MJ, Puck JM. Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening. The Journal of allergy and clinical immunology 2017. PMID: 28270365
Barmettler S, Otani IM, Minhas J, Abraham RS, Chang Y, Dorsey MJ, Ballas ZK, Bonilla FA, Ochs HD, Walter JE. Gastrointestinal Manifestations in X-linked Agammaglobulinemia. Journal of clinical immunology 2017. PMID: 28236219
Perez EE, Orange JS, Bonilla F, Chinen J, Chinn IK, Dorsey M, El-Gamal Y, Harville TO, Hossny E, Mazer B, Nelson R, Secord E, Jordan SC, Stiehm ER, Vo AA, Ballow M. Update on the use of immunoglobulin in human disease: A review of evidence. The Journal of allergy and clinical immunology 2016. PMID: 28041678
Nguyen A, Patel K, Puck J, Dorsey M. Longstanding Eosinophilia in a Case of Late Diagnosis Chronic Granulomatous Disease. Journal of clinical immunology 2016. PMID: 27966181
de la Morena MT, Leonard D, Torgerson TR, Cabral-Marques O, Slatter M, Aghamohammadi A, Chandra S, Murguia-Favela L, Bonilla FA, Kanariou M, Damrongwatanasuk R, Kuo CY, Dvorak CC, Meyts I, Chen K, Kobrynski L, Kapoor N, Richter D, DiGiovanni D, Dhalla F, Farmaki E, Speckmann C, Español T, Shcherbina A, Hanson IC, Litzman J, Routes JM, Wong M, Fuleihan R, Seneviratne SL, Small TN, Janda A, Bezrodnik L, Seger R, Raccio AG, Edgar JD, Chou J, Abbott JK, van Montfrans J, González-Granado LI, Bunin N, Kutukculer N, Gray P, Seminario G, Pasic S, Aquino V, Wysocki C, Abolhassani H, Dorsey M, Cunningham-Rundles C, Knutsen AP, Sleasman J, Costa Carvalho BT, Condino-Neto A, Grunebaum E, Chapel H, Ochs HD, Filipovich A, Cowan M, Gennery A, Cant A, Notarangelo LD, Roifman CM. Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation. The Journal of allergy and clinical immunology 2016. PMID: 27697500
Niebur HB, Duff CM, Shear GF, Nguyen D, Alberdi TK, Dorsey MJ, Sleasman JW. Efficacy and tolerability of 16% subcutaneous immunoglobulin compared with 20% subcutaneous immunoglobulin in primary antibody deficiency. Clinical and experimental immunology 2015. PMID: 25761372
Kubiak C, Jyonouchi S, Kuo C, Garcia-Lloret M, Dorsey MJ, Sleasman J, Zbrozek AS, Perez EE. Fiscal implications of newborn screening in the diagnosis of severe combined immunodeficiency. The journal of allergy and clinical immunology. In practice 2014. PMID: 25439359
Dorsey MJ, Ho V, Mabudian M, Soler-Palacín P, Domínguez-Pinilla N, Rishi R, Rishi R, Wong D, Rojavin M, Hubsch A, Berger M. Clinical experience with an L-proline–stabilized 10 %intravenous immunoglobulin (Privigen®): real-life effectiveness and tolerability. Journal of clinical immunology 2014. PMID: 24981039
Luciano AA, Arbona-Ramirez IM, Ruiz R, Llorens-Bonilla BJ, Martinez-Lopez DG, Funderburg N, Dorsey MJ. Alterations in regulatory T cell subpopulations seen in preterm infants. PloS one 2014. PMID: 24796788
Ladinsky HT, Perez EE, Dorsey MJ. Chronic granulomatous disease associated colitis leading to profound zinc deficiency. The journal of allergy and clinical immunology. In practice 2013. PMID: 24607052
Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, Noel RJ, Verbsky JW, Freeman AF, Janssen E, Bonilla FA, Pechacek J, Chandrasekaran P, Browne SK, Agharahimi A, Gharib AM, Mannurita SC, Yim JJ, Gambineri E, Torgerson T, Tran DQ, Milner JD, Holland SM. Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. The Journal of allergy and clinical immunology 2013. PMID: 23534974
Elizalde A, Perez EE, Sriaroon P, Nguyen D, Lockey RF, Dorsey MJ. Intensive educational course in allergy and immunology. Allergy 2012. PMID: 22765010
Dorsey MJ, Petrovic A, Morrow MR, Dishaw LJ, Sleasman JW. FOXP3 expression following bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. Immunologic research 2009. PMID: 19471859
Sanka M, Tangsinmankong N, Loscalzo M, Sleasman JW, Dorsey MJ. Complete DiGeorge syndrome associated with CHD7 mutation. The Journal of allergy and clinical immunology 2007. PMID: 17931565
Dorsey MJ, Orange JS. Impaired specific antibody response and increased B-cell population in transient hypogammaglobulinemia of infancy. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2006. PMID: 17165264
Dorsey MJ, Cohen LE, Phipatanakul W, Denufrio D, Schneider LC. Assessment of adrenal suppression in children with asthma treated with inhaled corticosteroids: use of dehydroepiandrosterone sulfate as a screening test. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2006. PMID: 16937748
Gura KM, Parsons SK, Bechard LJ, Henderson T, Dorsey M, Phipatanakul W, Duggan C, Puder M, Lenders C. Use of a fish oil-based lipid emulsion to treat essential fatty acid deficiency in a soy allergic patient receiving parenteral nutrition. Clinical nutrition (Edinburgh, Scotland) 2005. PMID: 16029913
Schneider-Yin X, Gouya L, Dorsey M, Rüfenacht U, Deybach JC, Ferreira GC. Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria. Blood 2000. PMID: 10942404