Jolan Walter, MD PhD

Robert A. Good Endowed Chair, Division of Pediatric Allergy & Immunology

Contact Info

• 601 4th Street CRI 4008
  St Petersburg FL 33701
• Academic Email: jolanwalter@usf.edu
• Academic Phone: (727) 553-1258
• View My C.V. | View My Website | View My Lab Site

Education

Academic Philosophy

Interdisciplinary and Emerging Signature Programs

• Allergy, Immunology & Infectious Disease

Research Interests

• Our research interest is in profound combined immunodeficiencies, such as severe combined immunodeficiency (SCID), its variants (e.g. IL2RG, ADA, RAG1/2 genes, NHEJ complex) and other genetically defined immune disorders (e.g. linked to genes such as PI3KCD/R1, CTLA4, NFKB1/2 genes). In particular, our research team investigates mechanisms of B cell dysregulation triggered by intrinsic (e.g., cytokines, transmembrane proteins) and extrinsic mechanisms (e.g., viral antigens, microbiome) in patients and mouse models of these inborn errors of immunity (IEI). Our research also extends to IEI patients presenting with autoimmune cytopenias, WHIM syndrome (warts, hypogammaglobulinemia, infections and myelokathexis), and those with COVID-19. Through collaboration, we contribute to the development of targeted therapies for IEI, including novel bone marrow transplant and gene therapy approaches, biological agents, and pharmaceuticals, with the long-range goal of improving patient care.

Recent Publications

• Walter JE, Ballow M. The WHIM Syndrome Is No Longer a Whim. The journal of allergy and clinical immunology. In practice. 7(5) : 1578-1579
• Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG, Lycopoulou L, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, Dbaibo G, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM, Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C, Wolska-Kuśnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, Chandrakasan S, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O, Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B, Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR, Notarangelo LD, Walter JE. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency. The journal of allergy and clinical immunology. In practice. 7(6) : 1970-1985.e4
• Meehan C, Bonfim C, Dasso JF, Costa-Carvalho BT, Condino-Neto A, Walter J. IN TIME: THE VALUE AND GLOBAL IMPLICATIONSOF NEWBORN SCREENING FORSEVERE COMBINED IMMUNODEFICIENCY. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo. 36(4) : 388-397
• Permaul P, Stutius LM, Sheehan WJ, Rangsithienchai P, Walter JE, Twarog FJ, Young MC, Scott JE, Schneider LC, Phipatanakul W. Sesame allergy: role of specific IgE and skin-prick testing in predicting food challenge results. Allergy and asthma proceedings. 30(6) : 643-8
• Walker MA, Slate N, Alejos A, Volpi S, Iyengar RS, Sweetser D, Sims KB, Walter JE. Predisposition to infection and SIRS in mitochondrial disorders: 8 years'' experience in an academic center. The journal of allergy and clinical immunology. In practice. 2(4) : 465-468, 468.e1
• Walter JE, Farmer JR, Foldvari Z, Torgerson TR, Cooper MA. Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary Immunodeficiencies. The journal of allergy and clinical immunology. In practice. 4(6) : 1089-1100
• Walter JE, Heimall J. CMV-Seropositive Mothers of SCID: To Breastfeed or Not? The journal of allergy and clinical immunology. In practice. 7(8) : 2866-2867
• Goda V, Malik A, Kalmar T, Maroti Z, Patel B, Ujhazi B, Csomos K, Hale JE, Chen K, Bleesing J, Palma P, Cancrini C, Comeau AM, Krivan G, Walter JE. Partial RAG deficiency in a patient with varicella infection, autoimmune cytopenia, and anticytokine antibodies. The journal of allergy and clinical immunology. In practice. 6(5) : 1769-1771.e2
• 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. 145(1) : 46-69, 2020.
• Barmettler S, Ong MS, Farmer JR, Yang N, Cobbold M, Walter JE, Long AA, Camargo CA. Gastrointestinal manifestations in common variable immunodeficiency (CVID) are associated with an altered immunophenotype including B- and T-cell dysregulation. The journal of allergy and clinical immunology. In practice. 8(4) : 1436-1438.e1, 2020.
• Cruz RJ, Dasso JF, Duff C, Krasnopero D, Long Z, Ellison M, Nieves D, Sriaroon P, Asante-Korang A, Walter JE. Hyaluronidase-Facilitated High-Dose Subcutaneous IgG Effectively Controls Parvovirus B19 Infection in a Pediatric Cardiac Transplant Patient With Severe T-Cell Lymphopenia. Open forum infectious diseases. 7(5) : ofaa076, 2020.
• 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. 11: 239, 2020.
• Sriaroon P, Chang Y, Ujhazi B, Csomos K, Joshi HR, Zhou Q, Close DW, Walter JE, Kumánovics A. Familial Immune Thrombocytopenia Associated With a Novel Variant in . Frontiers in pediatrics. 7: 139, 2019.
• Wu KY, Purswani P, Ujhazi B, Csomos K, Snezhina M, Elissaveta N, Stefanov S, Sharapova S, Ellison M, Milojevic D, Savic S, Sargur R, Walter JE. Arthritis in Two Patients With Partial Recombination Activating Gene Deficiency. Frontiers in pediatrics. 7: 235, 2019.
• Purswani P, Meehan CA, Kuehn HS, Chang Y, Dasso JF, Meyer AK, Ujhazi B, Csomos K, Lindsay D, Alberdi T, Joychan S, Trotter J, Duff C, Ellison M, Bleesing J, Kumanovics A, Comeau AM, Hale JE, Notarangelo LD, Torgersen TR, Ochs HD, Sriaroon P, Oshrine B, Petrovic A, Rosenzweig SD, Leiding JW, Walter JE. Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening. Frontiers in pediatrics. 7: 55, 2019.
• Parsons K, Cipriano SD, Rosen LB, Browne SK, Walter JE, Stone BL, Keeshin S, Chen K. Severe Facial Herpes Vegetans and Viremia in -Deficient Common Variable Immunodeficiency. Frontiers in pediatrics. 7: 61, 2019.
• Williams K, Shorser-Gentile L, Sarvode Mothi S, Berman N, Pasternack M, Geller D, Walter J. Immunoglobulin A Dysgammaglobulinemia Is Associated with Pediatric-Onset Obsessive-Compulsive Disorder. Journal of child and adolescent psychopharmacology. 29(4) : 268-275, 2019.
• Lawless D, Lango Allen H, Thaventhiran J, Hodel F, Anwar R, Fellay J, Walter JE, Savic S. Predicting the Occurrence of Variants in RAG1 and RAG2. Journal of clinical immunology. 39(7) : 688-701, 2019.
• Dorna MB, Barbosa PFA, Rangel-Santos A, Csomos K, Ujhazi B, Dasso JF, Thwaites D, Boyes J, Savic S, Walter JE. Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency. Frontiers in pediatrics. 7: 122, 2019.
• Walter JE, Ayala IA, Milojevic D. Autoimmunity as a continuum in primary immunodeficiency. Current opinion in pediatrics. 31(6) : 851-862, 2019.
• Farmer JR, Allard-Chamard H, Sun N, Ahmad M, Bertocchi A, Mahajan VS, Aicher T, Arnold J, Benson MD, Morningstar J, Barmettler S, Yuen G, Murphy SJH, Walter JE, Ghebremichael M, Shalek AK, Batista F, Gerszten R, Pillai S. Induction of metabolic quiescence defines the transitional to follicular B cell switch. Science signaling. 12(604) , 2019.
• Bulkhi AA, Dasso JF, Schuetz C, Walter JE. Approaches to patients with variants in RAG genes: from diagnosis to timely treatment. Expert review of clinical immunology. 15(10) : 1033-1046, 2019.
• Tirosh I, Yamazaki Y, Frugoni F, Ververs FA, Allenspach EJ, Zhang Y, Burns S, Al-Herz W, Noroski L, Walter JE, Gennery AR, van der Burg M, Notarangelo LD, Lee YN. Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype. The Journal of allergy and clinical immunology. 143(2) : 726-735, 2019.
• Peled A, Sarig O, Sun G, Samuelov L, Ma CA, Zhang Y, Dimaggio T, Nelson CG, Stone KD, Freeman AF, Malki L, Vidal LS, Chamarthy LM, Briskin V, Mohamad J, Pavlovsky M, Walter JE, Milner JD, Sprecher E. Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis. The Journal of allergy and clinical immunology. 143(1) : 173-181.e10, 2019.
• Suresh S, Upton J, Green M, Pham-Huy A, Posfay-Barbe KM, Michaels MG, Top KA, Avitzur Y, Burton C, Chong PP, Danziger-Isakov L, Dipchand AI, Hébert D, Kumar D, Morris SK, Nalli N, Ng VL, Nicholas SK, Robinson JL, Solomon M, Tapiero B, Verma A, Walter JE, Allen UD. Live vaccines after pediatric solid organ transplant: Proceedings of a consensus meeting, 2018. Pediatric transplantation. 23(7) : e13571, 2019.
• Lawless D, Geier CB, Farmer JR, Lango Allen H, Thwaites D, Atschekzei F, Brown M, Buchbinder D, Burns SO, Butte MJ, Csomos K, Deevi SVV, Egner W, Ehl S, Eibl MM, Fadugba O, Foldvari Z, Green DM, Henrickson SE, Holland SM, John T, Klemann C, Kuijpers TW, Moreira F, Piller A, Rayner-Matthews P, Romberg ND, Sargur R, Schmidt RE, Schröder C, Schuetz C, Sharapova SO, Smith KGC, Sogkas G, Speckmann C, Stirrups K, Thrasher AJ, Wolf HM, Notarangelo LD, Anwar R, Boyes J, Ujhazi B, Thaventhiran J, Walter JE, Savic S. Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency. The Journal of allergy and clinical immunology. 141(6) : 2303-2306, 2018.
• Miggelbrink AM, Logan BR, Buckley RH, Parrott RE, Dvorak CC, Kapoor N, Abdel-Azim H, Prockop SE, Shyr D, Decaluwe H, Hanson IC, Gillio A, Dávila Saldaña BJ, Eibel H, Hopkins G, Walter JE, Whangbo JS, Kohn DB, Puck JM, Cowan MJ, Griffith LM, Haddad E, O''Reilly RJ, Notarangelo LD, Pai SY. B-cell differentiation and IL-21 response in SCID patients after hematopoietic stem cell transplantation. Blood. 131(26) : 2967-2977, 2018.
• Otani IM, Carroll RW, Yager P, Kroshinsky D, Murphy S, Hornick JL, Akin C, Castells M, Walter JE. Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis. Clinical case reports. 6(9) : 1834-1840, 2018.
• Henrickson SE, Walter JE, Quinn C, Kanakry JA, Bardakjian T, Dimitrova D, Ujhazi B, Csomos K, Bosticardo M, Dobbs K, Nasrallah M, Notarangelo LD, Holland SM, Fadugba O. Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency. Journal of clinical immunology. 38(6) : 642-645, 2018.
• Abraham RS, Recher M, Giliani S, Walter JE, Lee YN, Frugoni F, Maddox DE, Kirmani S, Notarangelo LD. Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation. The Journal of allergy and clinical immunology. 131(5) : 1421-3, 2013.
• Barmettler S, Ong MS, Farmer JR, Choi H, Walter J. Association of Immunoglobulin Levels, Infectious Risk, and Mortality With Rituximab and Hypogammaglobulinemia. JAMA network open. 1(7) : e184169, 2018.
• Recher M, Fried AJ, Massaad MJ, Kim HY, Rizzini M, Frugoni F, Walter JE, Mathew D, Eibel H, Hess C, Giliani S, Umetsu DT, Notarangelo LD, Geha RS. Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia. Clinical immunology (Orlando, Fla.). 146(2) : 84-9, 2013.
• Westermann-Clark E, Grossi A, Fioredda F, Giardino S, Cappelli E, Terranova P, Palmisani E, Farmer JR, Foldvari Z, Yamazaki Y, Faraci M, Lanino E, Notarangelo LD, Dufour C, Ceccherini I, Walter JE, Miano M. RAG deficiency with ALPS features successfully treated with TCRαβ/CD19 cell depleted haploidentical stem cell transplant. Clinical immunology (Orlando, Fla.). 187: 102-103, 2018.
• Henderson LA, Frugoni F, Hopkins G, de Boer H, Pai SY, Lee YN, Walter JE, Hazen MM, Notarangelo LD. Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity. The Journal of allergy and clinical immunology. 132(4) : 969-71.e1-2, 2013.
• 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 CD56 NKG2A Cells, and Yet Display Increased Degranulation and Higher Perforin Content. Frontiers in immunology. 8: 798, 2017.
• 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. 37(3) : 287-294, 2017.
• Recher M, Burns SO, de la Fuente MA, Volpi S, Dahlberg C, Walter JE, Moffitt K, Mathew D, Honke N, Lang PA, Patrizi L, Falet H, Keszei M, Mizui M, Csizmadia E, Candotti F, Nadeau K, Bouma G, Delmonte OM, Frugoni F, Fomin AB, Buchbinder D, Lundequist EM, Massaad MJ, Tsokos GC, Hartwig J, Manis J, Terhorst C, Geha RS, Snapper S, Lang KS, Malley R, Westerberg L, Thrasher AJ, Notarangelo LD. B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice. Blood. 119(12) : 2819-28, 2012.
• Rowe JH, Stadinski BD, Henderson LA, Ott de Bruin L, Delmonte O, Lee YN, de la Morena MT, Goyal RK, Hayward A, Huang CH, Kanariou M, King A, Kuijpers TW, Soh JY, Neven B, Walter JE, Huseby ES, Notarangelo LD. Abnormalities of T-cell receptor repertoire in CD4 regulatory and conventional T cells in patients with RAG mutations: Implications for autoimmunity. The Journal of allergy and clinical immunology. 140(6) : 1739-1743.e7, 2017.
• Recher M, Berglund LJ, Avery DT, Cowan MJ, Gennery AR, Smart J, Peake J, Wong M, Pai SY, Baxi S, Walter JE, Palendira U, Tangye GA, Rice M, Brothers S, Al-Herz W, Oettgen H, Eibel H, Puck JM, Cattaneo F, Ziegler JB, Giliani S, Tangye SG, Notarangelo LD. IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo. Blood. 118(26) : 6824-35, 2011.
• Meyers G, Ng YS, Bannock JM, Lavoie A, Walter JE, Notarangelo LD, Kilic SS, Aksu G, Debré M, Rieux-Laucat F, Conley ME, Cunningham-Rundles C, Durandy A, Meffre E. Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans. Proceedings of the National Academy of Sciences of the United States of America. 108(28) : 11554-9, 2011.
• de la Fuente MA, Recher M, Rider NL, Strauss KA, Morton DH, Adair M, Bonilla FA, Ochs HD, Gelfand EW, Pessach IM, Walter JE, King A, Giliani S, Pai SY, Notarangelo LD. Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. The Journal of allergy and clinical immunology. 128(1) : 139-146, 2011.
• Walter JE, Rucci F, Patrizi L, Recher M, Regenass S, Paganini T, Keszei M, Pessach I, Lang PA, Poliani PL, Giliani S, Al-Herz W, Cowan MJ, Puck JM, Bleesing J, Niehues T, Schuetz C, Malech H, DeRavin SS, Facchetti F, Gennery AR, Andersson E, Kamani NR, Sekiguchi J, Alenezi HM, Chinen J, Dbaibo G, ElGhazali G, Fontana A, Pasic S, Detre C, Terhorst C, Alt FW, Notarangelo LD. Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency. The Journal of experimental medicine. 207(7) : 1541-54, 2010.
• 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 MT, 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. Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56 NKG2A Cells, and Yet Display Increased Degranulation and Higher Perforin Content. Frontiers in immunology. 8: 1244, 2017.
• Rucci F, Notarangelo LD, Fazeli A, Patrizi L, Hickernell T, Paganini T, Coakley KM, Detre C, Keszei M, Walter JE, Feldman L, Cheng HL, Poliani PL, Wang JH, Balter BB, Recher M, Andersson EM, Zha S, Giliani S, Terhorst C, Alt FW, Yan CT. Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome. Proceedings of the National Academy of Sciences of the United States of America. 107(7) : 3024-9, 2010.
• Pessach I, Walter J, Notarangelo LD. Recent advances in primary immunodeficiencies: identification of novel genetic defects and unanticipated phenotypes. Pediatric research. 65(5 Pt 2) : 3R-12R, 2009.
• Geier CB, Kraupp S, Bra D, Eibl MM, Farmer JR, Csomos K, Walter JE, Wolf HM. Reduced numbers of circulating group 2 innate lymphoid cells in patients with common variable immunodeficiency. European journal of immunology. 47(11) : 1959-1969, 2017.
• Permaul P, Stutius LM, Sheehan WJ, Rangsithienchai P, Walter JE, Twarog FJ, Young MC, Scott JE, Schneider LC, Phipatanakul W. Sesame Allergy: Role of Specific IgE and Skin Prick Testing in Predicting Food Challenge Results. The Journal of allergy and clinical immunology. 123(2 Suppl 1) : S24, 2009.
• Farmer JR, Ong MS, Barmettler S, Yonker LM, Fuleihan R, Sullivan KE, Cunningham-Rundles C, Walter JE. Common Variable Immunodeficiency Non-Infectious Disease Endotypes Redefined Using Unbiased Network Clustering in Large Electronic Datasets. Frontiers in immunology. 8: 1740, 2017.
• Walter JE, Miller J, Fisher RG, Byrd R. Subcutaneous nodule in a young girl: a diagnostic dilemma. Clinical pediatrics. 45(7) : 661-4, 2006.
• Kumánovics A, Lee YN, Close DW, Coonrod EM, Ujhazi B, Chen K, MacArthur DG, Krivan G, Notarangelo LD, Walter JE. Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium. The Journal of allergy and clinical immunology. 139(2) : 690-692.e3, 2017.
• Zhang Z, Mitchell DK, Afflerbach C, Jakab F, Walter J, Zhang YJ, Staat MA, Azimi P, Matson DO. Quantitation of human astrovirus by real-time reverse-transcription-polymerase chain reaction to examine correlation with clinical illness. Journal of virological methods. 134(1-2) : 190-6, 2006.
• Lee YN, Frugoni F, Dobbs K, Tirosh I, Du L, Ververs FA, Ru H, Ott de Bruin L, Adeli M, Bleesing JH, Buchbinder D, Butte MJ, Cancrini C, Chen K, Choo S, Elfeky RA, Finocchi A, Fuleihan RL, Gennery AR, El-Ghoneimy DH, Henderson LA, Al-Herz W, Hossny E, Nelson RP, Pai SY, Patel NC, Reda SM, Soler-Palacin P, Somech R, Palma P, Wu H, Giliani S, Walter JE, Notarangelo LD. Characterization of T and B cell repertoire diversity in patients with RAG deficiency. Science immunology. 1(6) , 2016.
• Al-Mutairy B, Walter JE, Pothen A, Mitchell DK. Genome prediction of putative genome-linked viral protein (VPg) of astroviruses. Virus genes. 31(1) : 21-30, 2005.
• 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. The Journal of clinical investigation. 126(11) : 4389, 2016.
• Jakab F, Walter JE, Berke T, Matson DO, Mitchell DK, Szucs G. Molecular characterization and sequence analysis of human astroviruses circulating in Hungary. FEMS immunology and medical microbiology. 39(2) : 97-102, 2003.
• Cantaert T, Schickel JN, Bannock JM, Ng YS, Massad C, Delmotte FR, Yamakawa N, Glauzy S, Chamberlain N, Kinnunen T, Menard L, Lavoie A, Walter JE, Notarangelo LD, Bruneau J, Al-Herz W, Kilic SS, Ochs HD, Cunningham-Rundles C, van der Burg M, Kuijpers TW, Kracker S, Kaneko H, Sekinaka Y, Nonoyama S, Durandy A, Meffre E. Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint. The Journal of clinical investigation. 126(11) : 4289-4302, 2016.
• Walter JE, Mitchell DK. Astrovirus infection in children. Current opinion in infectious diseases. 16(3) : 247-53, 2003.
• Zehentmeier S, Lim VY, Ma Y, Fossati J, Ito T, Jiang Y, Tumanov AV, Lee HJ, Dillinger L, Kim J, Csomos K, Walter JE, Choi J, Pereira JP. Dysregulated stem cell niches and altered lymphocyte recirculation cause B and T cell lymphopenia in WHIM syndrome Sci Immunol.. 7(75):eabo3170. doi: 10.1126/sciimmunol.abo3170.(0) , 2022.
• John T, Walter JE, Schuetz C, Chen K, Abraham RS, Bonfim C, Boyce TG, Joshi AY, Kang E, Carvalho BT, Mahajerin A, Nugent D, Puthenveetil G, Soni A, Su H, Cowan MJ, Notarangelo L, Buchbinder D. Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency. Journal of clinical immunology. 36(7) : 725-32, 2016.
• Walter JE, Armanios M. Case 41-2015: A Boy with Immune and Liver Abnormalities. The New England journal of medicine. 374(22) : 2193, 2016.
• Felgentreff K, Baxi SN, Lee YN, Dobbs K, Henderson LA, Csomos K, Tsitsikov EN, Armanios M, Walter JE, Notarangelo LD. Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals. Journal of clinical immunology. 36(4) : 341-53, 2016.
• Notarangelo LD, Kim MS, Walter JE, Lee YN. Human RAG mutations: biochemistry and clinical implications. Nature reviews. Immunology. 16(4) : 234-46, 2016.
• Walter JE, Ziegler JB, Ballow M, Cunningham-Rundles C. Advances and Challenges of the Decade: The Ever-Changing Clinical and Genetic Landscape of Immunodeficiency J Allergy Clin Immunol Pract. 11(1):107-115. doi: 10.1016/j.jaip.2022.11.007., 2023.
• Henderson LA, Volpi S, Frugoni F, Janssen E, Kim S, Sundel RP, Dedeoglu F, Lo MS, Hazen MM, Beth Son M, Mathieu R, Zurakowski D, Yu N, Lebedeva T, Fuhlbrigge RC, Walter JE, Nee Lee Y, Nigrovic PA, Notarangelo LD. Next-Generation Sequencing Reveals Restriction and Clonotypic Expansion of Treg Cells in Juvenile Idiopathic Arthritis. Arthritis & rheumatology (Hoboken, N.J.). 68(7) : 1758-68, 2016.
• Walter JE, Armanios M, Shah U, Friedmann AM, Spitzer T, Sharatz SM, Hagen C. CASE RECORDS of the MASSACHUSETTS GENERAL HOSPITAL. Case 41-2015. A 14-Year-Old Boy with Immune and Liver Abnormalities. The New England journal of medicine. 373(27) : 2664-76, 2015.
• Cantaert T, Schickel JN, Bannock JM, Ng YS, Massad C, Oe T, Wu R, Lavoie A, Walter JE, Notarangelo LD, Al-Herz W, Kilic SS, Ochs HD, Nonoyama S, Durandy A, Meffre E. Activation-Induced Cytidine Deaminase Expression in Human B Cell Precursors Is Essential for Central B Cell Tolerance. Immunity. 43(5) : 884-95, 2015.
• Walter JE, Lo MS, Kis-Toth K, Tirosh I, Frugoni F, Lee YN, Csomos K, Chen K, Pillai S, Dunham J, Tsokos GC, Luning Prak ET, Notarangelo LD. Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis. The Journal of allergy and clinical immunology. 135(1) : 272-3, 2015.
• Murguia-Favela L, Suresh S, Wright NAM, Alvi S, Tehseen S, Hernandez-Trujillo V, Seroogy CM, Haddad E, Nieves D, Walter JE, Pettiford L, Kamani NR, Keller MD, Pham-Huy A, Grunebaum E. Long-Term Immune Reconstitution in ADA-Deficient Patients Treated With Elapegademase: A Real-World Experience J Allergy Clin Immunol Pract. S2213-2198(23)00114-9. doi: 10.1016/j.jaip.2023.01.028, 2023.
• Chang K, Frankovich J, Cooperstock M, Cunningham MW, Latimer ME, Murphy TK, Pasternack M, Thienemann M, Williams K, Walter J, Swedo SE. Clinical evaluation of youth with pediatric acute-onset neuropsychiatric syndrome (PANS): recommendations from the 2013 PANS Consensus Conference. Journal of child and adolescent psychopharmacology. 25(1) : 3-13, 2015.
• Buchbinder D, Baker R, Lee YN, Ravell J, Zhang Y, McElwee J, Nugent D, Coonrod EM, Durtschi JD, Augustine NH, Voelkerding KV, Csomos K, Rosen L, Browne S, Walter JE, Notarangelo LD, Hill HR, Kumánovics A. Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders. Journal of clinical immunology. 35(2) : 119-24, 2015.
• Mathieu AL, Verronese E, Rice GI, Fouyssac F, Bertrand Y, Picard C, Chansel M, Walter JE, Notarangelo LD, Butte MJ, Nadeau KC, Csomos K, Chen DJ, Chen K, Delgado A, Rigal C, Bardin C, Schuetz C, Moshous D, Reumaux H, Plenat F, Phan A, Zabot MT, Balme B, Viel S, Bienvenu J, Cochat P, van der Burg M, Caux C, Kemp EH, Rouvet I, Malcus C, Méritet JF, Lim A, Crow YJ, Fabien N, Ménétrier-Caux C, De Villartay JP, Walzer T, Belot A. PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity. The Journal of allergy and clinical immunology. 135(6) : 1578-88.e5, 2015.
• Dahlberg CI, Torres ML, Petersen SH, Baptista MA, Keszei M, Volpi S, Grasset EK, Karlsson MC, Walter JE, Snapper SB, Notarangelo LD, Westerberg LS. Deletion of WASp and N-WASp in B cells cripples the germinal center response and results in production of IgM autoantibodies. Journal of autoimmunity. 62: 81-92, 2015.
• Gorgy AI, Jonassaint NL, Stanley SE, Koteish A, DeZern AE, Walter JE, Sopha SC, Hamilton JP, Hoover-Fong J, Chen AR, Anders RA, Kamel IR, Armanios M. Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders. Chest. 148(4) : 1019-1026, 2015.
• 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. The Journal of clinical investigation. 125(11) : 4135-48, 2015.
• Felgentreff K, Siepe M, Kotthoff S, von Kodolitsch Y, Schachtrup K, Notarangelo LD, Walter JE, Ehl S. Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders. Clinical immunology (Orlando, Fla.). 150(1) : 43-50, 2014.
• Farmer JR, Sokol CL, Bonilla FA, Murali MR, Kradin RL, Astor TL, Walter JE. Bilateral lung transplantation in a patient with humoral immune deficiency: a case report with review of the literature. Case reports in immunology. 2014: 910215, 2014.
• Recher M, Karjalainen-Lindsberg ML, Lindlöf M, Söderlund-Venermo M, Lanzi G, Väisänen E, Kumar A, Sadeghi M, Berger CT, Alitalo T, Anttila P, Kolehmainen M, Franssila R, Chen T, Siitonen S, Delmonte OM, Walter JE, Pessach I, Hess C, Simpson MA, Navarini AA, Giliani S, Hedman K, Seppänen M, Notarangelo LD. Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype. The Journal of allergy and clinical immunology. 133(5) : 1462-5, 1465.e1-5, 2014.
• Hajjar J, Voigt A, Conner M, Swennes A, Fowler S, Calarge C, Mendonca D, Armstrong D, Chang CY, Walter J, Butte M, Savidge T, Oh J, Kheradmand F, Petrosino J. Common Variable Immunodeficiency Patient Fecal Microbiota Transplant Recapitulates Gut Dysbiosis Res Sq.. 10.21203/rs.3.rs-2640584/v1, 2023.
• Chen K, Wu W, Mathew D, Zhang Y, Browne SK, Rosen LB, McManus MP, Pulsipher MA, Yandell M, Bohnsack JF, Jorde LB, Notarangelo LD, Walter JE. Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations. The Journal of allergy and clinical immunology. 133(3) : 880-2.e10, 2014.
• Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 312(7) : 729-38, 2014.
• Walker MA, Volpi S, Sims KB, Walter JE, Traggiai E. Powering the immune system: mitochondria in immune function and deficiency. Journal of immunology research. 2014: 164309, 2014.
• Lee YN, Frugoni F, Dobbs K, Walter JE, Giliani S, Gennery AR, Al-Herz W, Haddad E, LeDeist F, Bleesing JH, Henderson LA, Pai SY, Nelson RP, El-Ghoneimy DH, El-Feky RA, Reda SM, Hossny E, Soler-Palacin P, Fuleihan RL, Patel NC, Massaad MJ, Geha RS, Puck JM, Palma P, Cancrini C, Chen K, Vihinen M, Alt FW, Notarangelo LD. A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. The Journal of allergy and clinical immunology. 133(4) : 1099-108, 2014.
• Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Pai SY, Ballard B, Bauer SC, Bleesing JJ, Boyle M, Brower A, Buckley RH, van der Burg M, Burroughs LM, Candotti F, Cant AJ, Chatila T, Cunningham-Rundles C, Dinauer MC, Dvorak CC, Filipovich AH, Fleisher TA, Bobby Gaspar H, Gungor T, Haddad E, Hovermale E, Huang F, Hurley A, Hurley M, Iyengar S, Kang EM, Logan BR, Long-Boyle JR, Malech HL, McGhee SA, Modell F, Modell V, Ochs HD, O''Reilly RJ, Parkman R, Rawlings DJ, Routes JM, Shearer WT, Small TN, Smith H, Sullivan KE, Szabolcs P, Thrasher A, Torgerson TR, Veys P, Weinberg K, Zuniga-Pflucker JC. Primary Immune Deficiency Treatment Consortium (PIDTC) report. The Journal of allergy and clinical immunology. 133(2) : 335-47, 2014.
• Bankova LG, Walter JE, Iyengar SR, Lorenzo ME, Hornick JL, Castells MC. Generalized bullous eruption after routine vaccination in a child with diffuse cutaneous mastocytosis. The journal of allergy and clinical immunology. In practice. 1(1) : 94-6, 2013.