Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Janet Sue Chou, M.D.

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Research
research activities and funding
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  1. K08AI116979 (CHOU, JANET) Feb 1, 2015 - Jan 31, 2020
    NIH/NIAID
    Novel mechanisms of T cell costimulation: the role of LRRC8A in T cell activation
    Role: Principal Investigator

Bibliographic
selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Sahajpal NS, Hastie AR, Schieck M, Mondal AK, Felde M, van der Made CI, Chou JS, Randolph AG, Illig T, Zody MC, Brownstein CA, Beggs AH, Hoischen A, Chaubey A, Kolhe R. Genetic Predisposition to Neurological Complications in Patients with COVID-19. Biomolecules. 2023 01 09; 13(1). PMID: 36671517; PMCID: PMC9855758.
    Citations:    Fields:    Translation:Humans
  2. Sahajpal NS, Jill Lai CY, Hastie A, Mondal AK, Dehkordi SR, van der Made CI, Fedrigo O, Al-Ajli F, Jalnapurkar S, Byrska-Bishop M, Kanagal-Shamanna R, Levy B, Schieck M, Illig T, Bacanu SA, Chou JS, Randolph AG, Rojiani AM, Zody MC, Brownstein CA, Beggs AH, Bafna V, Jarvis ED, Hoischen A, Chaubey A, Kolhe R. Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19. iScience. 2022 Feb 18; 25(2):103760. PMID: 35036860; PMCID: PMC8744399.
    Citations: 1     
  3. Chou J, Platt CD, Habiballah S, Nguyen AA, Elkins M, Weeks S, Peters Z, Day-Lewis M, Novak T, Armant M, Williams L, Rockowitz S, Sliz P, Williams DA, Randolph AG, Geha RS. Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C). J Allergy Clin Immunol. 2021 09; 148(3):732-738.e1. PMID: 34224783; PMCID: PMC8252701.
    Citations: 23     Fields:    Translation:HumansCells
  4. Nguyen AA, Habiballah SB, Platt CD, Geha RS, Chou JS, McDonald DR. Immunoglobulins in the treatment of COVID-19 infection: Proceed with caution! Clin Immunol. 2020 07; 216:108459. PMID: 32418917.
    Citations: 42     Fields:    Translation:HumansCellsPHPublic Health
  5. Chou J, Alazami AM, Jaber F, Hoyos-Bachiloglu R, Jones J, Weeks S, Alosaimi MF, Bainter W, Cangemi B, Badran YR, Mohammed R, Alroqi F, Almutairi A, Al-Onazi N, AlAjaji S, Al-Saud B, Arnaout R, Elkins M, Devana S, Imperial J, Li B, Drexhage L, Abdel Rahman AM, Jacob M, Haddad H, Hanna-Wakim R, Dbaibo G, Massaad MJ, Dasouki M, Mikhael R, Baz Z, Geha RS, Al-Mousa H. Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation. J Allergy Clin Immunol. 2020 07; 146(1):192-202. PMID: 31862378.
    Citations: 4     Fields:    Translation:HumansCellsCTClinical Trials
  6. Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila TA, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O, Grimbacher B. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. J Allergy Clin Immunol. 2018 12; 142(6):1932-1946. PMID: 29729943; PMCID: PMC6215742.
    Citations: 115     Fields:    Translation:Humans
  7. Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Itan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Bleesing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 May; 38(4):540-541. PMID: 29781065.
    Citations:    Fields:    
  8. Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Tan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Blessing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 04; 38(3):320-329. PMID: 29675737.
    Citations: 23     Fields:    Translation:Humans
  9. Cetinkaya PG, Ayvaz DC, Karaatmaca B, Gocmen R, Söylemezoglu F, Bainter W, Chou J, Chatila TA, Tezcan I. A young girl with severe cerebral fungal infection due to card 9 deficiency. Clin Immunol. 2018 06; 191:21-26. PMID: 29307770.
    Citations: 13     Fields:    Translation:Humans
  10. Lougaris V, Chou J, Baronio M, Gazzurelli L, Lorenzini T, Soresina A, Moratto D, Badolato R, Seleman M, Bellettato M, Geha RS, Plebani A. Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay. Clin Immunol. 2018 03; 188:20-22. PMID: 29170023.
    Citations: 8     Fields:    Translation:HumansCells
  11. Hoyos-Bachiloglu R, Chou J, Sodroski CN, Beano A, Bainter W, Angelova M, Al Idrissi E, Habazi MK, Alghamdi HA, Almanjomi F, Al Shehri M, Elsidig N, Alaa Eldin M, Knipe DM, AlZahrani M, Geha RS. A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations. J Clin Invest. 2017 12 01; 127(12):4415-4420. PMID: 29106381; PMCID: PMC5707159.
    Citations: 31     Fields:    Translation:HumansCellsCTClinical Trials
  12. Alroqi FJ, Charbonnier LM, Keles S, Ghandour F, Mouawad P, Sabouneh R, Mohammed R, Almutairi A, Chou J, Massaad MJ, Geha RS, Baz Z, Chatila TA. DOCK8 Deficiency Presenting as an IPEX-Like Disorder. J Clin Immunol. 2017 Nov; 37(8):811-819. PMID: 29058101; PMCID: PMC5691358.
    Citations: 15     Fields:    Translation:HumansCells
  13. Al-Herz W, Massaad MJ, Chou J, Notarangelo LD, Geha RS. DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile. Clin Immunol. 2018 02; 187:68-75. PMID: 29051008; PMCID: PMC5826831.
    Citations: 4     Fields:    Translation:Humans
  14. Qamar F, Junejo S, Qureshi S, Seleman M, Bainter W, Massaad M, Chou J, Geha RS. A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis. Clin Immunol. 2017 10; 183:198-200. PMID: 28917720.
    Citations: 3     Fields:    Translation:HumansCells
  15. Abolhassani H, Chou J, Bainter W, Platt CD, Tavassoli M, Momen T, Tavakol M, Eslamian MH, Gharagozlou M, Movahedi M, Ghadami M, Hamidieh AA, Azizi G, Yazdani R, Afarideh M, Ghajar A, Havaei A, Chavoshzadeh Z, Mahdaviani SA, Cheraghi T, Behniafard N, Amin R, Aleyasin S, Faridhosseini R, Jabbari-Azad F, Nabavi M, Bemanian MH, Arshi S, Molatefi R, Sherkat R, Mansouri M, Mesdaghi M, Babaie D, Mohammadzadeh I, Ghaffari J, Shafiei A, Kalantari N, Ahanchian H, Khoshkhui M, Soheili H, Dabbaghzadeh A, Shirkani A, Nasiri Kalmarzi R, Mortazavi SH, Tafaroji J, Khalili A, Mohammadi J, Negahdari B, Joghataei MT, Al-Ramadi BK, Picard C, Parvaneh N, Rezaei N, Chatila TA, Massaad MJ, Keles S, Hammarström L, Geha RS, Aghamohammadi A. Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency. J Allergy Clin Immunol. 2018 04; 141(4):1450-1458. PMID: 28916186.
    Citations: 34     Fields:    Translation:Humans
  16. Marquardsen FA, Baldin F, Wunderer F, Al-Herz W, Mikhael R, Lefranc G, Baz Z, Rezaee F, Hanna R, Kfir-Erenfeld S, Stepensky P, Meyer B, Jauch A, Bigler MB, Burgener AV, Higgins R, Navarini AA, Church JA, Chou J, Geha R, Notarangelo LD, Hess C, Berger CT, Bloch DB, Recher M. Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency. J Clin Immunol. 2017 Oct; 37(7):707-714. PMID: 28825155.
    Citations: 3     Fields:    Translation:HumansCells
  17. Chinen J, Badran YR, Geha RS, Chou JS, Fried AJ. Advances in basic and clinical immunology in 2016. J Allergy Clin Immunol. 2017 Oct; 140(4):959-973. PMID: 28826774.
    Citations:    Fields:    Translation:HumansAnimals
  18. Schepp J, Chou J, Skrabl-Baumgartner A, Arkwright PD, Engelhardt KR, Hambleton S, Morio T, Röther E, Warnatz K, Geha R, Grimbacher B. 14?Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency. Front Immunol. 2017; 8:964. PMID: 28861081.
    Citations: 18     Fields:    
  19. Platt CD, Fried AJ, Hoyos-Bachiloglu R, Usmani GN, Schmidt B, Whangbo J, Chiarle R, Chou J, Geha RS. Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1. Clin Immunol. 2017 10; 183:142-144. PMID: 28822832; PMCID: PMC5673555.
    Citations: 21     Fields:    Translation:HumansCells
  20. Seleman M, Hoyos-Bachiloglu R, Geha RS, Chou J. Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies. Front Immunol. 2017; 8:847. PMID: 28791010.
    Citations: 28     Fields:    
  21. Yazdani R, Abolhassani H, Tafaroji J, Azizi G, Hamidieh AA, Chou J, Geha RS, Aghamohammadi A. Cernunnos deficiency associated with BCG adenitis and autoimmunity: First case from the national Iranian registry and review of the literature. Clin Immunol. 2017 10; 183:201-206. PMID: 28729231.
    Citations: 3     Fields:    Translation:Humans
  22. Dobbs K, Tabellini G, Calzoni E, Patrizi O, Martinez P, Giliani SC, Moratto D, Al-Herz W, Cancrini C, Cowan M, Bleesing J, Booth C, Buchbinder D, Burns SO, Chatila TA, Chou J, Daza-Cajigal V, Ott de Bruin LM, de la Morena M, Di Matteo G, Finocchi A, Geha R, Goyal RK, Hayward A, Holland S, Huang CH, Kanariou MG, King A, Kaplan B, Kleva A, Kuijpers TW, Lee BW, Lougaris V, Massaad M, Meyts I, Morsheimer M, Neven B, Pai SY, Parvaneh N, Plebani A, Prockop S, Reisli I, Soh JY, Somech R, Torgerson TR, Kim YJ, Walter JE, Gennery AR, Keles S, Manis JP, Marcenaro E, Moretta A, Parolini S, Notarangelo LD. Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content. Front Immunol. 2017; 8:798. PMID: 28769923.
    Citations: 21     Fields:    
  23. Badran YR, Dedeoglu F, Leyva Castillo JM, Bainter W, Ohsumi TK, Bousvaros A, Goldsmith JD, Geha RS, Chou J. Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration. J Exp Med. 2017 Jul 03; 214(7):1937-1947. PMID: 28600438; PMCID: PMC5502421.
    Citations: 22     Fields:    Translation:HumansAnimalsCells
  24. Alroqi FJ, Charbonnier LM, Baris S, Kiykim A, Chou J, Platt CD, Algassim A, Keles S, Al Saud BK, Alkuraya FS, Jordan M, Geha RS, Chatila TA. Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation. J Allergy Clin Immunol. 2018 03; 141(3):1050-1059.e10. PMID: 28601686; PMCID: PMC5743769.
    Citations: 31     Fields:    Translation:HumansCellsCTClinical Trials
  25. Behe P, Foote JR, Levine AP, Platt CD, Chou J, Benavides F, Geha RS, Segal AW. The LRRC8A Mediated "Swell Activated" Chloride Conductance Is Dispensable for Vacuolar Homeostasis in Neutrophils. Front Pharmacol. 2017; 8:262. PMID: 28553230; PMCID: PMC5427109.
    Citations: 4     
  26. Platt CD, Chou J, Houlihan P, Badran YR, Kumar L, Bainter W, Poliani PL, Perez CJ, Dent SYR, Clapham DE, Benavides F, Geha RS. Leucine-rich repeat containing 8A (LRRC8A)-dependent volume-regulated anion channel activity is dispensable for T-cell development and function. J Allergy Clin Immunol. 2017 Dec; 140(6):1651-1659.e1. PMID: 28192143; PMCID: PMC6170198.
    Citations: 18     Fields:    Translation:HumansAnimalsCells
  27. Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. J Clin Invest. 2016 11 01; 126(11):4389. PMID: 27801680; PMCID: PMC5096894.
    Citations: 12     Fields:    
  28. Massaad MJ, Zhou J, Tsuchimoto D, Chou J, Jabara H, Janssen E, Glauzy S, Olson BG, Morbach H, Ohsumi TK, Schmitz K, Kyriacos M, Kane J, Torisu K, Nakabeppu Y, Notarangelo LD, Chouery E, Megarbane A, Kang PB, Al-Idrissi E, Aldhekri H, Meffre E, Mizui M, Tsokos GC, Manis JP, Al-Herz W, Wallace SS, Geha RS. Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity. J Clin Invest. 2016 11 01; 126(11):4219-4236. PMID: 27760045; PMCID: PMC5096910.
    Citations: 34     Fields:    Translation:HumansAnimalsCells
  29. 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. J Allergy Clin Immunol. 2017 Apr; 139(4):1282-1292. PMID: 27697500; PMCID: PMC5374029.
    Citations: 40     Fields:    Translation:Humans
  30. Tahiat A, Badran YR, Chou J, Cangemi B, Lefranc G, Labgaa ZM, Oussalam S, Kaddouri-Slimani A, Belarbi A, Bendissari-Bouzid K, Gharnaout M, Geha RS, Djidjik R, Massaad MJ. Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult. J Allergy Clin Immunol. 2017 01; 139(1):372-375.e4. PMID: 27568080.
    Citations: 9     Fields:    Translation:Humans
  31. Badran YR, Rajab M, Hanna-Wakim R, Bainter W, Cangemi B, Massaad MJ, Dbaibo G, Geha RS, Chou J. Mutations in pyrin masquerading as a primary immunodeficiency. Clin Immunol. 2016 Oct; 171:65-66. PMID: 27538774.
    Citations: 1     Fields:    Translation:Humans
  32. Badran YR, Massaad MJ, Bainter W, Cangemi B, Naseem SU, Javad H, Al-Tamemi S, Geha RS, Chou J. Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1. Clin Immunol. 2016 05; 166-167:100-2. PMID: 27063589.
    Citations: 7     Fields:    Translation:HumansCells
  33. Al-Herz W, Chu JI, van der Spek J, Raghupathy R, Massaad MJ, Keles S, Biggs CM, Cockerton L, Chou J, Dbaibo G, Elisofon SA, Hanna-Wakim R, Kim HB, Lehmann LE, McDonald DR, Notarangelo LD, Veys P, Chatila TA, Geha RS, Gaspar HB, Pai SY. Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2016 09; 138(3):852-859.e3. PMID: 27130861; PMCID: PMC5354354.
    Citations: 18     Fields:    Translation:HumansCells
  34. Sobh A, Chou J, Schneider L, Geha RS, Massaad MJ. Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation. J Allergy Clin Immunol. 2016 07; 138(1):297-299. PMID: 26948078.
    Citations: 11     Fields:    Translation:HumansCells
  35. Alkhairy OK, Abolhassani H, Rezaei N, Fang M, Andersen KK, Chavoshzadeh Z, Mohammadzadeh I, El-Rajab MA, Massaad M, Chou J, Aghamohammadi A, Geha RS, Hammarström L. Spectrum of Phenotypes Associated with Mutations in LRBA. J Clin Immunol. 2016 Jan; 36(1):33-45. PMID: 26707784.
    Citations: 77     Fields:    Translation:HumansAnimals
  36. Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS. A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016 Jan; 48(1):74-8. PMID: 26642240.
    Citations: 84     Fields:    Translation:HumansAnimalsCells
  37. Yee CS, Massaad MJ, Bainter W, Ohsumi TK, Föger N, Chan AC, Akarsu NA, Aytekin C, Ayvaz DÇ, Tezcan I, Sanal Ö, Geha RS, Chou J. Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association. J Allergy Clin Immunol. 2016 Mar; 137(3):879-88.e2. PMID: 26476480; PMCID: PMC4783242.
    Citations: 13     Fields:    Translation:HumansAnimalsCells
  38. Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. J Clin Invest. 2015 Nov 02; 125(11):4135-48. PMID: 26457731; PMCID: PMC4639965.
    Citations: 63     Fields:    Translation:HumansAnimals
  39. Sobh A, Crestani E, Cangemi B, Kane J, Chou J, Pai SY, Notarangelo LD, Al-Herz W, Geha RS, Massaad MJ. Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. J Allergy Clin Immunol. 2016 Jan; 137(1):324-327.e2. PMID: 26456038.
    Citations: 4     Fields:    Translation:HumansAnimalsCells
  40. Crestani E, Volpi S, Candotti F, Giliani S, Notarangelo LD, Chu J, Aldave Becerra JC, Buchbinder D, Chou J, Geha RS, Kanariou M, King A, Mazza C, Moratto D, Sokolic R, Garabedian E, Porta F, Putti MC, Wakim RH, Tsitsikov E, Pai SY, Notarangelo LD. Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. J Allergy Clin Immunol. 2015 Nov; 136(5):1401-4.e1-3. PMID: 26409660; PMCID: PMC4640933.
    Citations: 14     Fields:    Translation:Humans
  41. Chou J, Hsu JT, Bainter W, Al-Attiyah R, Al-Herz W, Geha RS. A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection. Clin Immunol. 2015 Dec; 161(2):128-30. PMID: 26272171.
    Citations: 4     Fields:    Translation:Humans
  42. Dobbs K, Domínguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, Çiftçi E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskologlu S, Ensari A, Schuster M, Moretta A, Itan Y, Patrizi O, Rozenberg F, Lebon P, Saarela J, Knip M, Petrovski S, Goldstein DB, Parrott RE, Savas B, Schambach A, Tabellini G, Bock C, Chatila TA, Comeau AM, Geha RS, Abel L, Buckley RH, Ikinciogullari A, Al-Herz W, Helminen M, Dogu F, Casanova JL, Boztug K, Notarangelo LD. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med. 2015 Jun 18; 372(25):2409-22. PMID: 26083206; PMCID: PMC4480434.
    Citations: 78     Fields:    Translation:HumansCells
  43. Chou J, Badran YR, Yee CSK, Bainter W, Ohsumi TK, Al-Hammadi S, Pai SY, Feske S, Geha RS. A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function. J Allergy Clin Immunol. 2015 Aug; 136(2):479-482.e1. PMID: 26070885; PMCID: PMC4530045.
    Citations: 14     Fields:    Translation:HumansCells
  44. Chou J, Massaad MJ, Cangemi B, Bainter W, Platt C, Badran YR, Raphael BP, Kamin DS, Goldsmith JD, Pai SY, Al-Herz W, Geha RS. A novel mutation in ICOS presenting as hypogammaglobulinemia with susceptibility to opportunistic pathogens. J Allergy Clin Immunol. 2015 Sep; 136(3):794-797.e1. PMID: 25678089.
    Citations: 11     Fields:    Translation:HumansCells
  45. Charbonnier LM, Janssen E, Chou J, Ohsumi TK, Keles S, Hsu JT, Massaad MJ, Garcia-Lloret M, Hanna-Wakim R, Dbaibo G, Alangari AA, Alsultan A, Al-Zahrani D, Geha RS, Chatila TA. Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. J Allergy Clin Immunol. 2015 Jan; 135(1):217-27. PMID: 25468195; PMCID: PMC4289093.
    Citations: 91     Fields:    Translation:HumansCells
  46. Chou J, Massaad MJ, Wakim RH, Bainter W, Dbaibo G, Geha RS. A novel mutation in FOXN1 resulting in SCID: a case report and literature review. Clin Immunol. 2014 Nov; 155(1):30-32. PMID: 25173801.
    Citations: 15     Fields:    Translation:Humans
  47. Hedayat M, Massaad MJ, Lee YN, Conley ME, Orange JS, Ohsumi TK, Al-Herz W, Notarangelo LD, Geha RS, Chou J. Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells. J Allergy Clin Immunol. 2014 Oct; 134(4):983-5.e1. PMID: 24985406; PMCID: PMC4186892.
    Citations: 5     Fields:    Translation:HumansCells
  48. Günaydin NC, Chou J, Karaca NE, Aksu G, Massaad MJ, Azarsiz E, Ertan Y, Geha RS, Kütükçüler N. A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 binding capacity. Clin Immunol. 2014 Aug; 153(2):288-91. PMID: 24845792.
    Citations: 4     Fields:    Translation:HumansCells
  49. Kumar L, Chou J, Yee CS, Borzutzky A, Vollmann EH, von Andrian UH, Park SY, Hollander G, Manis JP, Poliani PL, Geha RS. Leucine-rich repeat containing 8A (LRRC8A) is essential for T lymphocyte development and function. J Exp Med. 2014 May 05; 211(5):929-42. PMID: 24752297.
    Citations: 53     Fields:    Translation:AnimalsCells
  50. Chou J, Lutskiy M, Tsitsikov E, Notarangelo LD, Geha RS, Dioun A. Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency. J Allergy Clin Immunol. 2014 Jul; 134(1):223-6. PMID: 24726394; PMCID: PMC4125425.
    Citations: 12     Fields:    Translation:HumansCells
  51. Gupta M, Shah AS, Vergilio JA, Chou J, Elliott A. Orbital follicular hyperplasia in common variable immune deficiency syndrome. Ophthalmic Plast Reconstr Surg. 2013 Nov-Dec; 29(6):e160-2. PMID: 23446300.
    Citations: 1     Fields:    Translation:Humans
  52. Platt C, Geha RS, Chou J. Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies. J Allergy Clin Immunol. 2014 Aug; 134(2):262-8. PMID: 24100122; PMCID: PMC3976463.
    Citations: 10     Fields:    Translation:HumansAnimalsCells
  53. Jabara HH, Ohsumi T, Chou J, Massaad MJ, Benson H, Megarbane A, Chouery E, Mikhael R, Gorka O, Gewies A, Portales P, Nakayama T, Hosokawa H, Revy P, Herrod H, Le Deist F, Lefranc G, Ruland J, Geha RS. A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. J Allergy Clin Immunol. 2013 Jul; 132(1):151-8. PMID: 23727036; PMCID: PMC3700575.
    Citations: 55     Fields:    Translation:HumansAnimalsCells
  54. Mizesko MC, Banerjee PP, Monaco-Shawver L, Mace EM, Bernal WE, Sawalle-Belohradsky J, Belohradsky BH, Heinz V, Freeman AF, Sullivan KE, Holland SM, Torgerson TR, Al-Herz W, Chou J, Hanson IC, Albert MH, Geha RS, Renner ED, Orange JS. Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2013 Mar; 131(3):840-8. PMID: 23380217; PMCID: PMC3646579.
    Citations: 60     Fields:    Translation:HumansCells
  55. Chou J, Ohsumi TK, Geha RS. Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies. Curr Opin Allergy Clin Immunol. 2012 Dec; 12(6):623-8. PMID: 23095910.
    Citations: 27     Fields:    Translation:HumansAnimalsCells
  56. Chou J, Hanna-Wakim R, Tirosh I, Kane J, Fraulino D, Lee YN, Ghanem S, Mahfouz I, Mégarbané A, Lefranc G, Inati A, Dbaibo G, Giliani S, Notarangelo LD, Geha RS, Massaad MJ. A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. J Allergy Clin Immunol. 2012 Dec; 130(6):1414-6. PMID: 22841008; PMCID: PMC3511613.
    Citations: 22     Fields:    Translation:Humans
  57. Chou JS, LeBovidge J, Timmons K, Elverson W, Morrill J, Schneider LC. Predictors of clinical success in a multidisciplinary model of atopic dermatitis treatment. Allergy Asthma Proc. 2011 Sep-Oct; 32(5):377-83. PMID: 22195691.
    Citations: 5     Fields:    Translation:Humans
  58. Borzutzky A, Fried A, Chou J, Bonilla FA, Kim S, Dedeoglu F. NOD2-associated diseases: Bridging innate immunity and autoinflammation. Clin Immunol. 2010 Mar; 134(3):251-61. PMID: 19467619.
    Citations: 27     Fields:    Translation:Humans
  59. Gross PL, Furie BC, Merrill-Skoloff G, Chou J, Furie B. Leukocyte-versus microparticle-mediated tissue factor transfer during arteriolar thrombus development. J Leukoc Biol. 2005 Dec; 78(6):1318-26. PMID: 16204641.
    Citations: 56     Fields:    Translation:AnimalsCells
  60. Chou J, Mackman N, Merrill-Skoloff G, Pedersen B, Furie BC, Furie B. Hematopoietic cell-derived microparticle tissue factor contributes to fibrin formation during thrombus propagation. Blood. 2004 Nov 15; 104(10):3190-7. PMID: 15280200.
    Citations: 102     Fields:    Translation:AnimalsCells
  61. Falati S, Liu Q, Gross P, Merrill-Skoloff G, Chou J, Vandendries E, Celi A, Croce K, Furie BC, Furie B. Accumulation of tissue factor into developing thrombi in vivo is dependent upon microparticle P-selectin glycoprotein ligand 1 and platelet P-selectin. J Exp Med. 2003 Jun 02; 197(11):1585-98. PMID: 12782720; PMCID: PMC2193915.
    Citations: 216     Fields:    Translation:Animals
  62. Flanagan LA, Chou J, Falet H, Neujahr R, Hartwig JH, Stossel TP. Filamin A, the Arp2/3 complex, and the morphology and function of cortical actin filaments in human melanoma cells. J Cell Biol. 2001 Nov 12; 155(4):511-7. PMID: 11706047; PMCID: PMC2198874.
    Citations: 80     Fields:    Translation:HumansCells
  63. Azim AC, Barkalow K, Chou J, Hartwig JH. Activation of the small GTPases, rac and cdc42, after ligation of the platelet PAR-1 receptor. Blood. 2000 Feb 01; 95(3):959-64. PMID: 10648409.
    Citations: 21     Fields:    Translation:HumansCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.