Research & Literature

Haematopoietic and immune defects associated with GATA2 mutation.

Collin M, Dickinson R, Bigley V

British journal of haematology 2015; (169(2)):173-87 doi:10.1111/bjh.13317.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

Use of 9-valent human papillomavirus (HPV) vaccine: updated HPV vaccination recommendations of the advisory committee on immunization practices.

Petrosky E, Bocchini JA, Hariri S, et al.

MMWR. Morbidity and mortality weekly report 2015; (64(11)):300-4.

Varicella-Zoster Virus and Herpes Simplex Virus 1 Differentially Modulate NKG2D Ligand Expression during Productive Infection.

Campbell TM, McSharry BP, Steain M, et al.

Journal of virology 2015; (89(15)):7932-43 doi:10.1128/JVI.00292-15.

Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations.

Maciejewski-Duval A, Meuris F, Bignon A, et al.

Journal of leukocyte biology 2016; (99(6)):1065-76 doi:10.1189/jlb.5MA0815-388R.

Association of GATA2 Deficiency With Severe Primary Epstein-Barr Virus (EBV) Infection and EBV-associated Cancers.

Cohen JI, Dropulic L, Hsu AP, et al.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2016; (63(1)):41-7 doi:10.1093/cid/ciw160.

A Modified NK Cell Degranulation Assay Applicable for Routine Evaluation of NK Cell Function.

Shabrish S, Gupta M, Madkaikar M

Journal of immunology research 2016; (2016()):3769590 doi:10.1155/2016/3769590.

Altered Expression of Natural Cytotoxicity Receptors and NKG2D on Peripheral Blood NK Cell Subsets in Breast Cancer Patients.

Nieto-Velázquez NG, Torres-Ramos YD, Muñoz-Sánchez JL, et al.

Translational oncology 2016; (9(5)):384-391 doi:10.1016/j.tranon.2016.07.003.

Biallelic mutations in IRF8 impair human NK cell maturation and function.

Mace EM, Bigley V, Gunesch JT, et al.

The Journal of clinical investigation 2017; (127(1)):306-320 doi:10.1172/JCI86276.

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.

Cottineau J, Kottemann MC, Lach FP, et al.

The Journal of clinical investigation 2017; (127(5)):1991-2006 doi:10.1172/JCI90727.

Skin manifestations among GATA2-deficient patients.

Polat A, Dinulescu M, Fraitag S, et al.

The British journal of dermatology 2018; (178(3)):781-785 doi:10.1111/bjd.15548.

Human CD56dimCD16dim Cells As an Individualized Natural Killer Cell Subset.

Amand M, Iserentant G, Poli A, et al.

Frontiers in immunology 2017; (8()):699 doi:10.3389/fimmu.2017.00699.

Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients.

Ruiz-García R, Rodríguez-Vigil C, Marco FM, et al.

Frontiers in immunology 2017; (8()):802 doi:10.3389/fimmu.2017.00802.

A Flow Cytometry-Based Cytotoxicity Assay for the Assessment of Human NK Cell Activity.

Kandarian F, Sunga GM, Arango-Saenz D, Rossetti M

Journal of visualized experiments : JoVE 2017; doi:10.3791/56191.

National, Regional, State, and Selected Local Area Vaccination Coverage Among Adolescents Aged 13-17 Years - United States, 2016.

Walker TY, Elam-Evans LD, Singleton JA, et al.

MMWR. Morbidity and mortality weekly report 2017; (66(33)):874-882 doi:10.15585/mmwr.mm6633a2.

Hemophagocytic Lymphohistiocytosis.

Al-Samkari H, Berliner N

Annual review of pathology 2018; (13()):27-49 doi:10.1146/annurev-pathol-020117-043625.

How Viruses Contribute to the Pathogenesis of Hemophagocytic Lymphohistiocytosis.

Brisse E, Wouters CH, Andrei G, Matthys P

Frontiers in immunology 2017; (8()):1102 doi:10.3389/fimmu.2017.01102.

Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.

Vargas-Hernández A, Mace EM, Zimmerman O, et al.

The Journal of allergy and clinical immunology 2018; (141(6)):2142-2155.e5 doi:10.1016/j.jaci.2017.08.040.

An improved method to quantify human NK cell-mediated antibody-dependent cell-mediated cytotoxicity (ADCC) per IgG FcR-positive NK cell without purification of NK cells.

Sung AP, Tang JJ, Guglielmo MJ, et al.

Journal of immunological methods 2018; (452()):63-72 doi:10.1016/j.jim.2017.11.002.

Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation.

Bigley V, Maisuria S, Cytlak U, et al.

The Journal of allergy and clinical immunology 2018; (141(6)):2234-2248 doi:10.1016/j.jaci.2017.08.044.

GATA2 Deficiency and Epstein-Barr Virus Disease.

Cohen JI

Frontiers in immunology 2017; (8()):1869 doi:10.3389/fimmu.2017.01869.

Allogeneic Hematopoietic Stem Cell Transplantation for GATA2 Deficiency Using a Busulfan-Based Regimen.

Parta M, Shah NN, Baird K, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2018; (24(6)):1250-1259 doi:10.1016/j.bbmt.2018.01.030.

Initial Characteristics and Clinical Severity of Hemophagocytic Lymphohistiocytosis in Pediatric Patients Admitted in the Emergency Department.

Lee JY, Kim JH, Lee JS, et al.

Pediatric emergency care 2021; (37(4)):204-207 doi:10.1097/PEC.0000000000001518.

Germline GATA2 Mutation and Bone Marrow Failure.

McReynolds LJ, Calvo KR, Holland SM

Hematology/oncology clinics of North America 2018; (32(4)):713-728 doi:10.1016/j.hoc.2018.04.004.

Clinical and Immunological Characterization of ICF Syndrome in Japan.

Kamae C, Imai K, Kato T, et al.

Journal of clinical immunology 2018; (38(8)):927-937 doi:10.1007/s10875-018-0559-y.

Emerging insights into human health and NK cell biology from the study of NK cell deficiencies.

Mace EM, Orange JS

Immunological reviews 2019; (287(1)):202-225 doi:10.1111/imr.12725.

The Impact of Immunodeficiency on NK Cell Maturation and Function.

Vargas-Hernández A, Forbes LR

Current allergy and asthma reports 2019; (19(1)):2 doi:10.1007/s11882-019-0836-8.

Evaluating Antibody-Dependent Cell-Mediated Cytotoxicity by Chromium Release Assay.

van der Haar Àvila I, Marmol P, Kiessling R, Pico de Coaña Y

Methods in molecular biology (Clifton, N.J.) 2019; (1913()):167-179 doi:10.1007/978-1-4939-8979-9_12.

Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome.

Aird A, Lagos M, Vargas-Hernández A, et al.

Frontiers in pediatrics 2019; (7()):303 doi:10.3389/fped.2019.00303.

How I Manage Natural Killer Cell Deficiency.

Orange JS

Journal of clinical immunology 2020; (40(1)):13-23 doi:10.1007/s10875-019-00711-7.

Monitoring and treatment of MDS in genetically susceptible persons.

Davies SM

Hematology. American Society of Hematology. Education Program 2019; (2019(1)):105-109 doi:10.1182/hematology.2019000020.

A research-driven approach to the identification of novel natural killer cell deficiencies affecting cytotoxic function.

Lam MT, Mace EM, Orange JS

Blood 2020; (135(9)):629-637 doi:10.1182/blood.2019000925.

Hemophagocytic lymphohistiocytosis: An update on pathogenesis, diagnosis, and therapy.

Griffin G, Shenoi S, Hughes GC

Best practice & research. Clinical rheumatology 2020; (34(4)):101515 doi:10.1016/j.berh.2020.101515.

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.

Ghosh S, Köstel Bal S, Edwards ESJ, et al.

Blood 2020; (136(23)):2638-2655 doi:10.1182/blood.2020006738.

Human NK cell deficiency as a result of biallelic mutations in MCM10.

Mace EM, Paust S, Conte MI, et al.

The Journal of clinical investigation 2020; (130(10)):5272-5286.

A Flow Cytometry-Based Whole Blood Natural Killer Cell Cytotoxicity Assay Using Overnight Cytokine Activation.

Kim J, Phan MT, Kweon S, et al.

Frontiers in immunology 2020; (11()):1851 doi:10.3389/fimmu.2020.01851.

Recalcitrant Herpes Zoster Ophthalmicus in a Patient Discovered to Have Underlying Functional Natural Killer Cell Deficiency.

Deibert BJ, Johnson KC, Desilet LW, Rorie AC

Ocular immunology and inflammation 2022; (30(1)):54-56 doi:10.1080/09273948.2020.1795205.

Report of a Fatal Case of Hemophagocytic Lymphohistiocytosis Syndrome and a Review of the Literature.

Khan HH, Ansar I, Kontos N, et al.

Cureus 2020; (12(12)):e12049 doi:10.7759/cureus.12049.

Immunoglobulin therapy for successful management of prolonged, recurrent jaundice in a young adult male with combined immunodeficiency.

Oda C, Tsuchiya A, Kimura A, et al.

Clinical journal of gastroenterology 2021; (14(4)):1197-1201 doi:10.1007/s12328-021-01347-0.

Diagnosis of GATA2 Deficiency in a Young Woman with Hemophagocytic Lymphohistiocytosis Triggered by Acute Systemic Cytomegalovirus Infection.

Burak N, Jan N, Kessler J, et al.

The American journal of case reports 2021; (22()):e927087 doi:10.12659/AJCR.927087.

The Role of Natural Killer Cells in Autoimmune Diseases.

Kucuksezer UC, Aktas Cetin E, Esen F, et al.

Frontiers in immunology 2021; (12()):622306 doi:10.3389/fimmu.2021.622306.

Antibody Afucosylation Augments CD16-Mediated Serial Killing and IFNγ Secretion by Human Natural Killer Cells.

Karampatzakis A, Brož P, Rey C, et al.

Frontiers in immunology 2021; (12()):641521 doi:10.3389/fimmu.2021.641521.

Adult onset type 2 familial hemophagocytic lymphohistiocytosis with PRF1 c.65delC/c.163C>T compound heterozygous mutations: A case report.

Liu XY, Nie YB, Chen XJ, et al.

World journal of clinical cases 2021; (9(10)):2289-2295 doi:10.12998/wjcc.v9.i10.2289.

Hematopoietic Cell Transplantation and Outcomes Related to Human Papillomavirus Disease in GATA2 Deficiency.

Parta M, Cole K, Avila D, et al.

Transplantation and cellular therapy 2021; (27(5)):435.e1-435.e11 doi:10.1016/j.jtct.2020.12.028.

Selective downregulation of natural killer activating receptors on NK cells and upregulation of PD-1 expression on T cells in children with severe and/or recurrent Herpes simplex virus infections.

Lenart M, Kluczewska A, Szaflarska A, et al.

Immunobiology 2021; (226(3)):152097 doi:10.1016/j.imbio.2021.152097.

Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome.

Bortnick R, Wlodarski M, de Haas V, et al.

Bone marrow transplantation 2021; (56(11)):2732-2741 doi:10.1038/s41409-021-01374-y.

Treatment of Relapsing HPV Diseases by Restored Function of Natural Killer Cells.

Lisco A, Hsu AP, Dimitrova D, et al.

The New England journal of medicine 2021; (385(10)):921-929 doi:10.1056/NEJMoa2102715.

A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT.

Jørgensen SF, Buechner J, Myhre AE, et al.

Journal of clinical immunology 2022; (42(2)):404-420 doi:10.1007/s10875-021-01189-y.

Locked and Loaded: Mechanisms Regulating Natural Killer Cell Lytic Granule Biogenesis and Release.

Ham H, Medlyn M, Billadeau DD

Frontiers in immunology 2022; (13()):871106 doi:10.3389/fimmu.2022.871106.

Restricted Recruitment of NK Cells with Impaired Function Is Caused by HPV-Driven Immunosuppressive Microenvironment of Papillomas in Aggressive Juvenile-Onset Recurrent Respiratory Papillomatosis Patients.

Wang W, Xi Y, Li S, et al.

Journal of virology 2022; (96(19)):e0094622 doi:10.1128/jvi.00946-22.

Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.

Conte MI, Poli MC, Taglialatela A, et al.

JCI insight 2022; (7(21)).

The spectrum of GATA2 deficiency syndrome.

Calvo KR, Hickstein DD

Blood 2023; (141(13)):1524-1532 doi:10.1182/blood.2022017764.

[Research Progress of Allogeneic Hematopoietic Stem Sell Trans-plantation in the Treatment of Adult Hemophagocytic Lympho-histiocytosis --Review].

Tu ST, Zhou YL, Li F

Zhongguo shi yan xue ye xue za zhi 2023; (31(1)):301-305 doi:10.19746/j.cnki.issn.1009-2137.2023.01.048.

The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.

Santiago M, Liquori A, Such E, et al.

Cancers 2023; (15(5)) doi:10.3390/cancers15051590.

Perceived control is significantly associated with psychological adaptation in individuals with known or suspected inborn errors of immunity.

Setzer M, Yan J, Erby L, Similuk M

Journal of community genetics 2023; (14(6)):639-647 doi:10.1007/s12687-023-00670-y.

Allelic bias contributes to heterogeneous phenotypes of NK cell deficiency.

Seo S, Ahn YO, Patil SL, et al.

bioRxiv : the preprint server for biology 2025; doi:10.1101/2023.09.25.559149.

Evaluation of Psychiatric Symptomatology, Quality of Life, and Caregiver Burden in Mothers and Children with Primary Immunodeficiency.

Kılıç N, Kaya Ş, Taşçı G, et al.

Allergologia et immunopathologia 2023; (51(6)):45-53 doi:10.15586/aei.v51i6.927.

Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.

Ma JG, O'Neill MJ, Richardson E, et al.

medRxiv : the preprint server for health sciences 2023; doi:10.1101/2023.12.19.23299592.

A critical threshold of MCM10 is required to maintain genome stability during differentiation of induced pluripotent stem cells into natural killer cells.

Schmit MM, Baxley RM, Wang L, et al.

Open biology 2024; (14(1)):230407 doi:10.1098/rsob.230407.

Anxiety in Polish adult patients with inborn errors of immunity: a cross-sectional study.

Grochowalska K, Ziętkiewicz M, Nowicka-Sauer K, et al.

Frontiers in psychiatry 2024; (15()):1293935 doi:10.3389/fpsyt.2024.1293935.

Genetics of Primary Hemophagocytic Lymphohistiocytosis.

Karageorgos S, Platt AS, Bassiri H

Advances in experimental medicine and biology 2024; (1448()):75-101 doi:10.1007/978-3-031-59815-9_7.

Long-term outcome after allogeneic stem cell transplantation for GATA2 deficiency: An analysis of 67 adults and children from France and Belgium.

Sicre de Fontbrune F, Chevillon F, Fahd M, et al.

British journal of haematology 2026; (208(1)):250-258 doi:10.1111/bjh.19691.

Human papillomavirus disease in GATA2 deficiency: a genetic predisposition to HPV-associated female anogenital malignancy.

Dancy E, Stratton P, Pichard DC, et al.

Frontiers in immunology 2024; (15()):1445711 doi:10.3389/fimmu.2024.1445711.

Rare Case of Germline GATA2-Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia.

Yu S, Park MS, Kim GY, et al.

Cancer reports (Hoboken, N.J.) 2024; (7(12)):e70068 doi:10.1002/cnr2.70068.

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

Abdalgani M, Hernandez ER, Pedroza LA, et al.

The Journal of allergy and clinical immunology 2025; (155(5)):1623-1634 doi:10.1016/j.jaci.2025.01.030.

Aggressive Head and Neck Squamous Cell Carcinoma in the Setting of GATA2 Deficiency.

Aljabi B, Stewart JA, Withrow K, Thomas CM

Head & neck 2025; (47(7)):E82-E86 doi:10.1002/hed.28117.

Genetic Counseling in Pediatric Inborn Errors of Immunity: Perspective Piece on Current Practice and Considerations.

DeBortoli E, McInerney-Leo A, Macintosh R, et al.

The journal of allergy and clinical immunology. In practice 2025; (13(8)):1918-1927 doi:10.1016/j.jaip.2025.03.052.

Complete CD16A Deficiency and Defective NK Cell Function in a Man Living with HIV.

Zhang W, Scott AF, Mohr DW, et al.

Journal of clinical immunology 2025; (45(1)):98.

Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.

Kotmayer L, Kozyra EJ, Kang G, et al.

Blood cancer journal 2025; (15(1)):121 doi:10.1038/s41408-025-01309-6.

Vulnerability beyond infection: Effects of peer victimization on quality of life and psychosocial well-being in inborn errors of immunity.

Meric Z, Durcan G, Coban ZB, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2026; (37(3)):e70318 doi:10.1111/pai.70318.

Autosomal dominant CDC45 deficiency with allelic expression bias causes a novel genetic disease of the immune system.

Guilz NC, Ahn YO, Seo S, et al.

bioRxiv : the preprint server for biology 2026; doi:10.64898/2026.03.04.709645.

Case Report: Munc13-4 deficiency presenting with autoimmune neuropathy years before FLH: implications for early genetic screening and HSCT timing.

Wei X, Hu J, Bao L, et al.

Frontiers in immunology 2026; (17()):1890404 doi:10.3389/fimmu.2026.1890404.

Psychological Symptoms in Patients with Inborn Errors of Immunity and Their Family Members: A Cross-Sectional Study.

Alpagat G, Nas N

Medicina (Kaunas, Lithuania) 2026; (62(8)) doi:10.3390/medicina62081616.

Frequency of depression and anxiety in patients with inborn errors of immunity: a cross-sectional study.

Wolff LJ, Witte T, Kahl KG, et al.

BMC psychiatry 2026; (26(1)).

Work participation in inborn errors of immunity: The dual burden on patients and caregivers.

Pulvirenti F, Sgrulletti M, Radovic K, et al.

Journal of human immunity 2026; (2(6)) doi:10.70962/jhi.20260077.