Publications Print Ham H, Isham CR, Ristagno EH, Correia C, Ennis SM, Kandasamy RK, Garapati K, Zhang C, Kohlhagen MC, Sadighi Akha E, Rodriguez-Quevedo MF, Schultz DF, Chen B, Boyce TG, Gregory SW, Kohorst MA, Dasari S, Murray DL, Halling KC, Kipp BR, Kumanovics A, Li H, Pandey A, Billadeau DD, Sadighi Akha AA. A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics. J Allergy Clin Immunol. 2025 Mar 8 Epub 2025 Mar 08 View PubMed Molitor A, Lederle A, Radosavljevic M, Sapuru V, Zavorka Thomas ME, Yang J, Shirin M, Collin-Bund V, Jerabkova-Roda K, Miao Z, Bernard A, Rolli V, Grenot P, Castro CN, Rosenzwajg M, Lewis EG, Person R, Esperon-Moldes US, Kaare M, Nokelainen PT, Batzir NA, Hoffer GZ, Paul N, Stemmelen T, Naegely L, Hanauer A, Bibi-Triki S, Grun S, Jung S, Busnelli I, Tripolszki K, Al-Ali R, Ordonez N, Bauer P, Song E, Zajo K, Partida-Sanchez S, Robledo-Avila F, Kumanovics A, Louzoun Y, Hirschler A, Pichot A, Toker O, Mejia CAM, Parvaneh N, Knapp E, Hersh JH, Kenney H, Delmonte OM, Notarangelo LD, Goetz JG, Kahwash SB, Carapito C, Bajwa RPS, Thomas C, Ehl S, Isidor B, Carapito R, Abraham RS, Hite RK, Marcus N, Bertoli-Avella A, Bahram S. A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease. Sci Adv. 2024 Sep 13; 10 (37):eado5545 Epub 2024 Sept 13 View PubMed Ondracek CR, Melanson SEF, Doan L, Schulz KM, Kleinman S, Zhao Z, Kumanovics A, Wu AHB, Wiencek J, Meng QH, Apple FS, Koch D, Vesper H, Pokuah F, Bryksin J, Myers GL, Christenson RH, Zhang YV. Large-Scale Scientific Study Led by a Professional Organization during the COVID-19 Pandemic: Operations, Best Practices, and Lessons Learned. J Appl Lab Med. 2024 Mar 1; 9 (2):371-385 View PubMed Zhang YV, Kumanovics A, Wiencek J, Melanson SEF, Love T, Wu AHB, Zhao Z, Meng QH, Koch DD, Apple FS, Ondracek CR, Christenson RH. Performance of Three Anti-SARS-CoV-2 Anti-S and One Anti-N Immunoassays for the Monitoring of Immune Status and Vaccine Response. Viruses. 2024 Feb 14; 16 (2) View PubMed Sadighi Akha AA, Csomos K, Ujhazi B, Walter JE, Kumanovics A. Evolving Approach to Clinical Cytometry for Immunodeficiencies and Other Immune Disorders. Clin Lab Med. 2023 Sep; 43 (3):467-483 Epub 2023 June 09 View PubMed Zhao Z, Kumanovics A, Love T, Melanson SEF, Meng QH, Wu AHB, Wiencek J, Apple FS, Ondracek CR, Koch DD, Christenson RH, Zhang YV. T Cell Responses Correlate with Self-Reported Disease Severity and Neutralizing Antibody Responses Predict Protection against SARS-CoV-2 Breakthrough Infection. Viruses. 2023 Mar 9; 15 (3) Epub 2023 Mar 09 View PubMed Kumanovics A, Sadighi Akha AA. Flow cytometry for B-cell subset analysis in immunodeficiencies. J Immunol Methods. 2022 Oct; 509:113327 Epub 2022 Aug 05 View PubMed Sadighi Akha AA, Kumanovics A. Anti-cytokine autoantibodies and inborn errors of immunity. J Immunol Methods. 2022 Sep; 508:113313 Epub 2022 July 09 View PubMed Csomos K, Ujhazi B, Blazso P, Herrera JL, Tipton CM, Kawai T, Gordon S, Ellison M, Wu K, Stowell M, Haynes L, Cruz R, Zakota B, Nguyen J, Altrich M, Geier CB, Sharapova S, Dasso JF, Leiding JW, Smith G, Al-Herz W, de Barros Dorna M, Fadugba O, Fronkova E, Kanderova V, Svaton M, Henrickson SE, Hernandez JD, Kuijpers T, Kandilarova SM, Naumova E, Milota T, Sediva A, Moshous D, Neven B, Saco T, Sargur R, Savic S, Sleasman J, Sunkersett G, Ward BR, Komatsu M, Pittaluga S, Kumanovics A, Butte MJ, Cancro MP, Pillai S, Meffre E, Notarangelo LD, Walter JE. Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet(+) B cells. Nat Immunol. 2022 Aug; 23 (8):1256-1272 Epub 2022 July 28 View PubMed Tahata S, Raymond K, Quade M, Barnes S, Boyer S, League S, Kumanovics A, Abraham R, Jacob E, Menon P, Morava E. Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature. Am J Med Genet A. 2022 Jul; 188 (7):2005-2018 Epub 2022 Mar 26 View PubMed Ashrafzadeh-Kian S, Campbell MR, Jara Aguirre JC, Walsh J, Kumanovics A, Jenkinson G, Rinaldo P, Snyder MR, Algeciras-Schimnich A. Role of immune mediators in predicting hospitalization of SARS-CoV-2 positive patients. Cytokine. 2022 Feb; 150:155790. Epub 2021 Dec 25. View PubMed Melanson SEF, Zhao Z, Kumanovics A, Love T, Meng QH, Wu AHB, Apple F, Ondracek CR, Schulz KM, Wiencek JR, Koch D, Christenson R, Zhang YV. Tolerance for three commonly administered COVID-19 vaccines by healthcare professionals. Front Public Health. 2022; 10:975781 Epub 2022 Sept 27 View PubMed Knight V, Heimall JR, Chong H, Nandiwada SL, Chen K, Lawrence MG, Sadighi Akha AA, Kumanovics A, Jyonouchi S, Ngo SY, Vinh DC, Hagin D, Forbes Satter LR, Marsh RA, Chiang SCC, Willrich MAV, Frazer-Abel AA, Rider NL. A Toolkit and Framework for Optimal Laboratory Evaluation of Individuals with Suspected Primary Immunodeficiency. J Allergy Clin Immunol Pract. 2021 Sep; 9 (9):3293-3307.e6 Epub 2021 May 24 View PubMed Kumanovics A. Systemic Evaluation of the Immune System in Infants to Predict the Development of Pediatric Asthma. Clin Chem 2020 Dec 1; 66 (12):1477-1479 View PubMed Joshi HR, Hill HR, Asch J, Zhou Q, Margraf R, Coonrod E, Durtschi J, He X, Voelkerding KV, Kumanovics A. CXXC5 variant in an immunodeficient patient with a progressive loss of hematopoietic cells. J Allergy Clin Immunol. 2020 Oct 16 [Epub ahead of print] View PubMed Joshi HR, Hill HR, Zhou Z, He X, Voelkerding KV, Kumanovics A. Frontline Science: Cxxc5 expression alters cell cycle and myeloid differentiation of mouse hematopoietic stem and progenitor cells. J Leukoc Biol. 2020 Aug; 108 (2):469-484 Epub 2020 Feb 21 View PubMed Chinn IK, Chan AY, Chen K, Chou J, Dorsey MJ, Hajjar J, Jongco AM 3rd, 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. J Allergy Clin Immunol. 2020 Jan; 145 (1):46-69 Epub 2019 Sept 27 View PubMed Ravkov EV, Charlton CM, Barker AP, Hill H, Peterson LK, Slev P, Tebo A, Voelkerding KV, Wittwer CT, Heikal N, Delgado JC, Lazar-Molnar E, Kumanovics A. Evaluation of Mass Cytometry in the Clinical Laboratory. Cytometry B Clin Cytom. 2019 Jun 7 Epub 2019 June 07 View PubMed 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. Front Pediatr. 2019; 7:55 Epub 2019 Apr 05 View PubMed Sriaroon P, Chang Y, Ujhazi B, Csomos K, Joshi HR, Zhou Q, Close DW, Walter JE, Kumanovics A. Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1. Front Pediatr. 2019; 7:139 Epub 2019 Apr 24 View PubMed Profaizer T, Kumanovics A. Human Leukocyte Antigen Typing by Next-Generation Sequencing. Clin Lab Med. 2018 Dec; 38 (4):565-578 Epub 2018 Oct 05 View PubMed Cytlak U, Resteu A, Bogaert D, Kuehn HS, Altmann T, Gennery A, Jackson G, Kumanovics A, Voelkerding KV, Prader S, Dullaers M, Reichenbach J, Hill H, Haerynck F, Rosenzweig SD, Collin M, Bigley V. Ikaros family zinc finger 1 regulates dendritic cell development and function in humans. Nat Commun. 2018 Mar 27; 9 (1):1239 View PubMed Profaizer T, Lazar-Molnar E, Pole A, Delgado JC, Kumanovics A. HLA genotyping using the Illumina HLA TruSight next-generation sequencing kits: A comparison. Int J Immunogenet. 2017 Aug; 44 (4):164-168 Epub 2017 May 28 View PubMed Kumanovics 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. J Allergy Clin Immunol 2017 Feb; 139 (2):690-692.e3 Epub 2016 Sept 05 View PubMed Abdulhay N, Fiorini C, Kumanovics A, Sun AA, Hansen-Rejali J, Voelkerding KV, Rosenzweig SD, Hill HR, Sankaran VG. Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations. Blood 2016 Oct 20; 128 (16):2100-2103 Epub 2016 Aug 31 View PubMed Profaizer T, Lazar-Molnar E, Close DW, Delgado JC, Kumanovics A. HLA genotyping in the clinical laboratory: comparison of next-generation sequencing methods. HLA. 2016 Jul; 88 (1-2):14-24 Epub 2016 Aug 14 View PubMed Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, Maffucci P, Pierce KR, Abbott JK, Voelkerding KV, South ST, Augustine NH, Bush JS, Dolen WK, Wray BB, Itan Y, Cobat A, Sorte HS, Ganesan S, Prader S, Martins TB, Lawrence MG, Orange JS, Calvo KR, Niemela JE, Casanova JL, Fleisher TA, Hill HR, Kumanovics A, Conley ME, Rosenzweig SD. Loss of B Cells in Patients with Heterozygous Mutations in IKAROS. N Engl J Med. 2016 Mar 17; 374 (11):1032-1043 View PubMed Lázár-Molnár E, Kumánovics A. Immunodeficiency evaluation in adults with recurrent bacterial infections ASCP LabQ. 2016. Profaizer T, Coonrod EM, Delgado JC, Kumanovics A. Report on the effects of fragment size, indexing, and read length on HLA sequencing on the Illumina MiSeq. Hum Immunol. 2015 Dec; 76 (12):897-902 Epub 2015 Aug 22 View PubMed 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, Uze 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; 125(11):4135-48. View PubMed 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, Kumanovics A. Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders. J Clin Immunol. 2015 Feb; 35 (2):119-24 Epub 2014 Dec 17 View PubMed Caron JE, La Pine TR, Augustine NH, Martins TB, Kumanovics A, Hill HR. Severely depressed interleukin-17 production by human neonatal mononuclear cells. Pediatr Res. 2014 Dec; 76 (6):522-7 Epub 2014 Sept 05 View PubMed Coonrod EM, Durtschi JD, VanSant Webb C, Voelkerding KV, Kumanovics A. Next-generation sequencing of custom amplicons to improve coverage of HaloPlex multigene panels. Biotechniques. 2014 Oct; 57 (4):204-7 Epub 2014 Oct 01 View PubMed Chen L, Reyes-Vargas E, Dai H, Escobar H, Rudd B, Fairbanks J, Ho A, Cusick MF, Kumanovics A, Delgado J, He X, Jensen PE. Expression of the mouse MHC class Ib H2-T11 gene product, a paralog of H2-T23 (Qa-1) with shared peptide-binding specificity. J Immunol. 2014 Aug 1; 193 (3):1427-39 Epub 2014 June 23 View PubMed Swoboda KJ, Margraf RL, Carey JC, Zhou H, Newcomb TM, Coonrod E, Durtschi J, Mallempati K, Kumanovics A, Katz BE, Voelkerding KV, Opitz JM. A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. Am J Med Genet A. 2014 Jan; 164A (1):17-28 Epub 2013 Nov 20 View PubMed Margraf RL, Coonrod EM, Durtschi JD, Augustine NH, Voelkerding KV, Hill HR, Kumanovics A. TACI mutation p.Lys154Ter identified in Good Syndrome. Clin Immunol 2013 Jan; 146 (1):10-2 Epub 2012 Oct 31 View PubMed Kumanovics A, Perkins SL, Gilbert H, Cessna MH, Augustine NH, Hill HR. Diffuse large B cell lymphoma in hyper-IgE syndrome due to STAT3 mutation. J Clin Immunol. 2010 Nov; 30 (6):886-93 Epub 2010 Sept 22 View PubMed Kumanovics A, Wittwer CT, Pryor RJ, Augustine NH, Leppert MF, Carey JC, Ochs HD, Wedgwood RJ, Faville RJ Jr, Quie PG, Hill HR. Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases. J Mol Diagn. 2010 Mar; 12 (2):213-9 Epub 2010 Jan 21 View PubMed Powers AE, Bender JM, Kumanovics A, Ampofo K, Augustine N, Pavia AT, Hill HR. Coccidioides immitis meningitis in a patient with hyperimmunoglobulin E syndrome due to a novel mutation in signal transducer and activator of transcription. Pediatr Infect Dis J. 2009 Jul; 28 (7):664-6 View PubMed Lin H, Kumanovics A, Nelson JM, Warner DE, Ward DM, Kaplan J. A single amino acid change in the yeast vacuolar metal transporters ZRC1 and COT1 alters their substrate specificity. J Biol Chem. 2008 Dec 5; 283 (49):33865-73 Epub 2008 Oct 16 View PubMed Kumanovics A, Chen OS, Li L, Bagley D, Adkins EM, Lin H, Dingra NN, Outten CE, Keller G, Winge D, Ward DM, Kaplan J. Identification of FRA1 and FRA2 as genes involved in regulating the yeast iron regulon in response to decreased mitochondrial iron-sulfur cluster synthesis. J Biol Chem. 2008 Apr 18; 283 (16):10276-86 Epub 2008 Feb 15 View PubMed Kumánovics A, Poruk KE, Osborn KA, Ward DM, Kaplan J. YKE4 (YIL023C) encodes a bidirectional zinc transporter in the endoplasmic reticulum of Saccharomyces cerevisiae. J Biol Chem. 2006 Aug 11; 281(32):22566-74. Epub 2006 Jun 07. View PubMed Dijkstra JM, Kiryu I, Yoshiura Y, Kumanovics A, Kohara M, Hayashi N, Ototake M. Polymorphism of two very similar MHC class Ib loci in rainbow trout (Oncorhynchus mykiss). Immunogenetics. 2006 Apr; 58 (2-3):152-67 Epub 2006 Mar 04 View PubMed Kumanovics A, Fischer Lindahl K. Good copy, bad copy: choosing animal models for HLA-linked diseases. Curr Opin Genet Dev. 2004 Jun; 14 (3):258-63 View PubMed Amadou C, Younger RM, Sims S, Matthews LH, Rogers J, Kumanovics A, Ziegler A, Beck S, Lindahl KF. Co-duplication of olfactory receptor and MHC class I genes in the mouse major histocompatibility complex. Hum Mol Genet. 2003 Nov 15; 12 (22):3025-40 Epub 2003 Sept 23 View PubMed Takada T, Kumanovics A, Amadou C, Yoshino M, Jones EP, Athanasiou M, Evans GA, Fischer Lindahl K. Species-specific class I gene expansions formed the telomeric 1 mb of the mouse major histocompatibility complex. Genome Res. 2003 Apr; 13 (4):589-600 View PubMed Loconto J, Papes F, Chang E, Stowers L, Jones EP, Takada T, Kumanovics A, Fischer Lindahl K, Dulac C. Functional expression of murine V2R pheromone receptors involves selective association with the M10 and M1 families of MHC class Ib molecules. Cell. 2003 Mar 7; 112 (5):607-18 View PubMed Kumanovics A, Takada T, Lindahl KF. Genomic organization of the mammalian MHC. Annu Rev Immunol. 2003; 21:629-57 Epub 2001 Dec 19 View PubMed Kumanovics A, Levin G, Blount P. Family ties of gated pores: evolution of the sensor module. FASEB J. 2002 Oct; 16 (12):1623-9 View PubMed Kumanovics A, Madan A, Qin S, Rowen L, Hood L, Fischer Lindahl K. QUOD ERAT FACIENDUM: sequence analysis of the H2-D and H2-Q regions of 129/SvJ mice. Immunogenetics. 2002 Oct; 54 (7):479-89 Epub 2002 Sept 20 View PubMed Kumanovics A, Lindahl KF. G7c in the lung tumor susceptibility (Lts) region of the Mhc class III region encodes a von Willebrand factor type A domain protein. Immunogenetics. 2001 Feb; 53 (1):64-8 View PubMed Jones EP, Kumanovics A, Yoshino M, Fischer Lindahl K. Mhc class I and non-class I gene organization in the proximal H2-M region of the mouse. Immunogenetics. 1999 Mar; 49 (3):183-95 View PubMed Amadou C, Kumanovics A, Jones EP, Lambracht-Washington D, Yoshino M, Lindahl KF. The mouse major histocompatibility complex: some assembly required. Immunol Rev. 1999 Feb; 167:211-21 View PubMed Berki T, Kumanovics G, Kumanovics A, Falus A, Ujhelyi E, Nemeth P. Production and flow cytometric application of a monoclonal anti-glucocorticoid receptor antibody. J Immunol Methods. 1998 May 1; 214 (1-2):19-27 View PubMed Balogh P, Kumanovics A, Juhasz I. Studies on the tissue-related phenotypic heterogeneity of murine B cells. Dev Immunol. 1998; 6 (3-4):179-85 View PubMed Yoshino M, Xiao H, Jones EP, Kumanovics A, Amadou C, Fischer Lindahl K. Genomic evolution of the distal Mhc class I region on mouse Chr 17. Hereditas. 1997; 127 (1-2):141-8 View PubMed Balogh P, Kumanovics A. Tissue-associated phenotypic heterogeneity of peripheral B cells in mice. Immunology. 1995 Dec; 86 (4):560-7 View PubMed PST-20514979 Home Publications