Research & Literature

Regulation of myelopoiesis by the transcription factor IRF8.

Tamura T, Kurotaki D, Koizumi S

International journal of hematology 2015; (101(4)):342-51 doi:10.1007/s12185-015-1761-9.

Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency.

Olbrich P, Martínez-Saavedra MT, Perez-Hurtado JM, et al.

Pediatric blood & cancer 2015; (62(11)):2036-9 doi:10.1002/pbc.25625.

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.

Al-Mousa H, Abouelhoda M, Monies DM, et al.

The Journal of allergy and clinical immunology 2016; (137(6)):1780-1787 doi:10.1016/j.jaci.2015.12.1310.

Dendritic cell analysis in primary immunodeficiency.

Bigley V, Barge D, Collin M

Current opinion in allergy and clinical immunology 2016; (16(6)):530-540 doi:10.1097/ACI.0000000000000322.

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.

IL12Rβ1 defect presenting with massive intra-abdominal lymphadenopathy due to Mycobacterium intracellulare infection.

Kadayifci EK, Karaaslan A, Atici S, et al.

Asian Pacific journal of allergy and immunology 2017; (35(3)):161-165 doi:10.12932/AP0790.

Modelling IRF8 Deficient Human Hematopoiesis and Dendritic Cell Development with Engineered iPS Cells.

Sontag S, Förster M, Qin J, et al.

Stem cells (Dayton, Ohio) 2017; (35(4)):898-908 doi:10.1002/stem.2565.

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.

Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.

Esteve-Solé A, Sologuren I, Martínez-Saavedra MT, et al.

Critical reviews in clinical laboratory sciences 2018; (55(3)):184-204 doi:10.1080/10408363.2018.1444580.

Transcription Factor IRF8 Governs Enhancer Landscape Dynamics in Mononuclear Phagocyte Progenitors.

Kurotaki D, Nakabayashi J, Nishiyama A, et al.

Cell reports 2018; (22(10)):2628-2641 doi:10.1016/j.celrep.2018.02.048.

The Child with Recurrent Mycobacterial Disease.

Reed B, Dolen WK

Current allergy and asthma reports 2018; (18(8)):44 doi:10.1007/s11882-018-0797-3.

Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rβ1-Deficient Peruvian Girl.

Esteve-Sole A, Sánchez-Dávila SP, Deyà-Martínez A, et al.

Journal of clinical immunology 2018; (38(6)):712-716 doi:10.1007/s10875-018-0535-6.

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.

IRF and STAT Transcription Factors - From Basic Biology to Roles in Infection, Protective Immunity, and Primary Immunodeficiencies.

Mogensen TH

Frontiers in immunology 2018; (9()):3047 doi:10.3389/fimmu.2018.03047.

Association between Mycobacterium avium Complex Pulmonary Disease and Mycobacteria in Home Water and Soil.

Tzou CL, Dirac MA, Becker AL, et al.

Annals of the American Thoracic Society 2020; (17(1)):57-62 doi:10.1513/AnnalsATS.201812-915OC.

Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.

Quinn J, Modell V, Holle J, et al.

Immunologic research 2020; (68(3)):126-134 doi:10.1007/s12026-020-09131-x.

Physical Measures to Reduce Exposure to Tap Water-Associated Nontuberculous Mycobacteria.

Norton GJ, Williams M, Falkinham JO, Honda JR

Frontiers in public health 2020; (8()):190 doi:10.3389/fpubh.2020.00190.

Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency.

Dotta L, Vairo D, Giacomelli M, et al.

Frontiers in immunology 2020; (11()):1161 doi:10.3389/fimmu.2020.01161.

Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans.

Cytlak U, Resteu A, Pagan S, et al.

Immunity 2020; (53(2)):353-370.e8 doi:10.1016/j.immuni.2020.07.003.

Tap Water Avoidance Decreases Rates of Hospital-onset Pulmonary Nontuberculous Mycobacteria.

Baker AW, Stout JE, Anderson DJ, et al.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2021; (73(3)):524-527 doi:10.1093/cid/ciaa1237.

Environmental risk factors associated with pulmonary isolation of nontuberculous mycobacteria, a population-based study in the southeastern United States.

DeFlorio-Barker S, Egorov A, Smith GS, et al.

The Science of the total environment 2021; (763()):144552 doi:10.1016/j.scitotenv.2020.144552.

Identification of a novel IRF8 homozygous mutation causing neutrophilia, monocytopenia and fatal infection in a female neonate.

Dang D, Liu Y, Zhou Q, et al.

Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2021; (96()):105121 doi:10.1016/j.meegid.2021.105121.

A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity.

Perazzio SF, Palmeira P, Moraes-Vasconcelos D, et al.

Frontiers in immunology 2021; (12()):721289 doi:10.3389/fimmu.2021.721289.

Effective anti-mycobacterial treatment for BCG disease in patients with Mendelian Susceptibility to Mycobacterial Disease (MSMD): a case series.

Mahdaviani SA, Fallahi M, Jamee M, et al.

Annals of clinical microbiology and antimicrobials 2022; (21(1)):8 doi:10.1186/s12941-022-00500-y.

Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency.

Rosain J, Bernasconi A, Prieto E, et al.

Journal of clinical immunology 2022; (42(5)):975-985 doi:10.1007/s10875-022-01250-4.

Mitigation of nontuberculous mycobacteria in hospital water: challenges for infection prevention.

Kaul CM, Chan J, Phillips MS

Current opinion in infectious diseases 2022; (35(4)):330-338 doi:10.1097/QCO.0000000000000844.

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds.

Errami A, Baghdadi JE, Ailal F, et al.

Journal of clinical immunology 2023; (43(4)):728-740 doi:10.1007/s10875-022-01419-x.

Inborn errors of human transcription factors governing IFN-γ antimycobacterial immunity.

Ogishi M, Yang R, Rosain J, et al.

Current opinion in immunology 2023; (81()):102296 doi:10.1016/j.coi.2023.102296.

Genetic screening in a Brazilian cohort with inborn errors of immunity.

Ferreira CS, Francisco Junior RDS, Gerber AL, et al.

BMC genomic data 2023; (24(1)):47 doi:10.1186/s12863-023-01148-z.

Mendelian susceptibility to mycobacterial diseases: State of the puzzle.

Errami A, Bousfiha AA

Qatar medical journal 2023; (2023(2)):25 doi:10.5339/qmj.2023.sqac.25.

Autosomal Recessive IL-12p40 Deficiency due to a Mutation in the IL12B Gene: Report of a Brazilian Patient with Lymph Node Mycobacterial Infection.

Melo KM, Tavares FS, Antunes TS, et al.

Pediatric allergy, immunology, and pulmonology 2024; (37(1)):33-36 doi:10.1089/ped.2022.0206.

Shower dehumidification to reduce nontuberculous mycobacteria aerosolization.

Kostecki MX, Chan YL, Honda JR

BMC research notes 2024; (17(1)):91 doi:10.1186/s13104-024-06751-6.

A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics.

Ham H, Isham CR, Ristagno EH, et al.

The Journal of allergy and clinical immunology 2025; (155(6)):2022-2037 doi:10.1016/j.jaci.2024.11.041.

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.

"It's a Godsend": Parental experiences of genomic testing for paediatric inborn errors of immunity.

Clark A, DeBortoli E, Blancoe M, et al.

European journal of human genetics : EJHG 2025; (33(10)):1342-1349 doi:10.1038/s41431-025-01917-7.

Clinical recommendations for diagnosis and management of Mendelian susceptibility to mycobacterial disease in resource-limited settings.

Cornelissen H, Glanzmann B, van Coller A, et al.

The journal of allergy and clinical immunology. Global 2025; (4(4)):100540 doi:10.1016/j.jacig.2025.100540.

Case Report: A patient with a novel heterozygous IRF8 variant with repeated infection and immune-mediated organ disease, but without disseminated mycobacterial disease despite BCG immunization.

Chiang SCC, Owsley E, Husami A, et al.

Frontiers in immunology 2025; (16()):1654617 doi:10.3389/fimmu.2025.1654617.

Age-Related Patterns of Type II Interferon Immunity: Implications for Intramacrophagic Infections and MSMD Diagnosis During Childhood.

Luo Y, Argüello G, Acevedo D, et al.

Journal of clinical immunology 2025; (46(1)):13 doi:10.1007/s10875-025-01955-2.

Primary Immunodeficiency Diseases with BCG-Induced Diseases: A 15-Year Longitudinal Cohort Study.

Xia L, Yang Y, Li XY, et al.

Journal of clinical immunology 2026; (46(1)).

What We Have Here Is a Failure to Communicate: Interleukin-12 / Interferon-gamma Axis Defects and Mendelian Susceptibility to Mycobacterial Disease.

Johnston AΜ, Rider NL, Freeman AF, et al.

The journal of allergy and clinical immunology. In practice 2026; (14(7)):1529-1539 doi:10.1016/j.jaip.2026.02.026.

Mendelian susceptibility to mycobacterial disease: IFN-γ-driven immunity collapse underlies heterogeneous infections.

Qian M, Zhou J, Zhou Q, et al.

Frontiers in immunology 2026; (17()):1781297 doi:10.3389/fimmu.2026.1781297.

Lymph Node Cytology Raising Suspicion for Evolving Secondary Hemophagocytic Lymphohistiocytosis in a Case of Mendelian Susceptibility to Mycobacterial Disease.

Soni D, Mukhopadhyay S, Panwar H, et al.

Diagnostic cytopathology 2026; (54(11)):E292-E295 doi:10.1002/dc.70186.

Tailored conditioning for hematopoietic stem cell transplantation in children with Mendelian susceptibility to mycobacterial disease: A tale of two pathways for IFN-γ and IL-12 defects.

Ganesan K, Balwani M, Seshadri N, et al.

Journal of human immunity 2026; (2(5)):e20250264 doi:10.70962/jhi.20250264.

Values and preferences of patients with inborn errors of immunity and their caregivers: a systematic review.

Rayner DG, Nakhla M, Ologundudu L, et al.

Frontiers in immunology 2026; (17()):1876316 doi:10.3389/fimmu.2026.1876316.

Persistent Ascites Revealing Mendelian Susceptibility to Mycobacterial Disease Due to IL-12Rβ1 Deficiency: A Case Report and Review of the Literature.

Dolikhani M, Shakibamaram G, Rashtian P, et al.

Case reports in immunology 2026; (2026()):3587297 doi:10.1155/crii/3587297.

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.

Pediatric Mycobacterium bovis Infection: Clinical Spectrum, BCG-Related Disease, Primary Immunodeficiency, and a Comprehensive Review of the Literature.

Mete Atasever N, Dede E, Köksalan K, et al.

Vaccines 2026; (14(10)) doi:10.3390/vaccines14100867.