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Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency

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dc.contributor.authorAbdalgani, Manar
dc.contributor.authorHernandez , Evelyn
dc.contributor.authorPedroza, Luis
dc.contributor.authorChinn, Ivan
dc.contributor.authorForbes, Lisa
dc.contributor.authorRider, Nicholas
dc.contributor.authorBanerjee, Pinaki
dc.contributor.authorPoli Harlowe, María Cecilia
dc.contributor.authorMahapatra, Sanjana
dc.contributor.authorCanter, Debra
dc.contributor.authorCao, Tram
dc.contributor.authorShawver, Linda
dc.contributor.authorNandiwada, Sarada
dc.contributor.authorLupski, James
dc.contributor.authorPosey, Jennifer
dc.contributor.authorRamakrishnan, Rajasekhar
dc.contributor.authorMace, Emily
dc.contributor.authorOrange, Jordan
dc.date.accessioned2026-08-12T17:56:02Z
dc.date.available2026-08-12T17:56:02Z
dc.date.issued2025
dc.description.abstractBackground: Natural killer (NK) cell deficiency (NKD) is an immunodeficiency phenotype in which abnormality of NK cells is the major clinically relevant immune defect. Objective: We sought to define the clinical, immunologic, and genetic characteristics of patients with NKD to aid in the understanding of these individuals and this cell type and guide future research and clinical practice. Methods: During 2006-2022, 168 individuals with a suspected diagnosis of NKD were enrolled, with comprehensive clinical, immunologic, and genetic data collected and analyzed. Research exome sequencing was performed to identify both known and novel genetic associations. Results: NK cell abnormalities consistent with NKD were confirmed in 148 participants. Most presented during childhood (median age 13 years, range 0-76 years), though 34% were adults. All tested individuals exhibited reduced NK cell cytotoxic function; 44% also had decreased NK cell numbers and/or mature NK cells. Herpesvirus and/or papillomavirus infections were observed in 71%, malignancies were observed in 7%, and a 5% case-fatality rate was noted. Among the 99 participants who underwent research exome sequencing, 29% were considered solved for a likely contributing variant allele, with 52% of these cases involving known genes and 48% involving novel genes. Conclusions: NKD is a phenotypic immunodeficiency associated with increased susceptibility to certain viral infections and cancer with multiple genetic etiologies, revealing key biological pathways for NK cell development and function. This research underscores the role of NK cells in human immune defenses and helps advance the identification of at-risk populations, precise genetic diagnoses, and informed clinical management for patients with NKD.
dc.description.versionVersión Publicada
dc.identifier.citationAbdalgani M, Hernandez ER, Pedroza LA, Chinn IK, Forbes Satter LR, Rider NL, Banerjee PP, Poli MC, Mahapatra S, Canter D, Cao T, Shawver LM, Nandiwada SL, Lupski JR, Posey JE, Ramakrishnan R, Mace EM, Orange JS. Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency. J Allergy Clin Immunol. 2025 May;155(5):1623-1634. doi: 10.1016/j.jaci.2025.01.030
dc.identifier.doihttps://doi.org/10.1016/j.jaci.2025.01.030
dc.identifier.urihttps://hdl.handle.net/11447/11006
dc.language.isoen
dc.subjectNK cells
dc.subjectcytotoxicity
dc.subjectimmunogenetics
dc.subjectgene pathogenic alleles
dc.subjectherpesvirus
dc.subjectinborn errors of immunity
dc.subjectprimary immunodeficiency
dc.titleClinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency
dc.typeArticle
dcterms.accessRightsAcceso Abierto
dcterms.sourceThe Journal of allergy and clinical immunology
dspace.entity.typePublication
relation.isAuthorOfPublicationbf711dbf-cd6f-4a66-97fb-64c15f664de3
relation.isAuthorOfPublication.latestForDiscoverybf711dbf-cd6f-4a66-97fb-64c15f664de3

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