Research & Literature

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

Depner M, Fuchs S, Raabe J, et al.

Journal of clinical immunology 2016; (36(1)):73-84 doi:10.1007/s10875-015-0214-9.

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Toubiana J, Okada S, Hiller J, et al.

Blood 2016; (127(25)):3154-64 doi:10.1182/blood-2015-11-679902.

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children.

Sarrafzadeh SA, Mahloojirad M, Nourizadeh M, et al.

Iranian journal of public health 2016; (45(2)):249-54.

STAT mutations as program switchers: turning primary immunodeficiencies into autoimmune diseases.

Lorenzini T, Dotta L, Giacomelli M, et al.

Journal of leukocyte biology 2017; (101(1)):29-38 doi:10.1189/jlb.5RI0516-237RR.

A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases.

Ueki M, Yamada M, Ito K, et al.

Clinical immunology (Orlando, Fla.) 2017; (174()):24-31 doi:10.1016/j.clim.2016.11.004.

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

Kagawa R, Fujiki R, Tsumura M, et al.

The Journal of allergy and clinical immunology 2017; (140(1)):232-241 doi:10.1016/j.jaci.2016.09.035.

Long-Term Survival After Hematopoietic Stem Cell Transplantation for Complete STAT1 Deficiency.

Naviglio S, Soncini E, Vairo D, et al.

Journal of clinical immunology 2017; (37(7)):701-706 doi:10.1007/s10875-017-0430-6.

Hematopoietic stem cell gene therapy for IFNγR1 deficiency protects mice from mycobacterial infections.

Hetzel M, Mucci A, Blank P, et al.

Blood 2018; (131(5)):533-545 doi:10.1182/blood-2017-10-812859.

Impaired IFNγ-Signaling and Mycobacterial Clearance in IFNγR1-Deficient Human iPSC-Derived Macrophages.

Neehus AL, Lam J, Haake K, et al.

Stem cell reports 2018; (10(1)):7-16 doi:10.1016/j.stemcr.2017.11.011.

Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1.

Pedraza-Sánchez S, Lezana-Fernández JL, Gonzalez Y, et al.

Frontiers in immunology 2017; (8()):1651 doi:10.3389/fimmu.2017.01651.

Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.

Althonaian N, Alsultan A, Morava E, Alfadhel M

JIMD reports 2018; (42()):105-111 doi:10.1007/8904_2018_88.

Paradigm for diagnosing mycobacterial disease: direct detection and differentiation of Mycobacterium tuberculosis complex and non-tuberculous mycobacteria in clinical specimens using multiplex real-time PCR.

Kim JU, Ryu DS, Cha CH, Park SH

Journal of clinical pathology 2018; (71(9)):774-780 doi:10.1136/jclinpath-2017-204945.

A Positive Feedback Amplifier Circuit That Regulates Interferon (IFN)-Stimulated Gene Expression and Controls Type I and Type II IFN Responses.

Michalska A, Blaszczyk K, Wesoly J, Bluyssen HAR

Frontiers in immunology 2018; (9()):1135 doi:10.3389/fimmu.2018.01135.

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.

Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China.

Ying W, Liu D, Dong X, et al.

Journal of clinical immunology 2019; (39(6)):600-610 doi:10.1007/s10875-019-00672-x.

Safety and tolerability of moxifloxacin for the treatment of disseminated BCGitis in children.

Alsuhaibani M, Felimban G, Shoukri M, et al.

International journal of pediatrics & adolescent medicine 2019; (6(2)):47-50 doi:10.1016/j.ijpam.2019.01.003.

Novel nonsense IL-12Rβ1 mutation associated with recurrent tuberculosis.

Ul Akbar N, Khan SN, Amin MU, et al.

Immunologic research 2019; (67(4-5)):408-415 doi:10.1007/s12026-019-09094-8.

Pediatric hemophagocytic lymphohistiocytosis.

Canna SW, Marsh RA

Blood 2020; (135(16)):1332-1343 doi:10.1182/blood.2019000936.

DISSEMINATED BACILLUS-CALMETTE-GUÉRIN INFECTIONS AND PRIMARY IMMUNODEFICIENCY DISORDERS IN SINGAPORE: A SINGLE CENTER 15-YEAR RETROSPECTIVE REVIEW.

Ong RYL, Chan SB, Chew SJ, et al.

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 2020; (97()):117-125 doi:10.1016/j.ijid.2020.05.117.

Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations.

Sakata S, Tsumura M, Matsubayashi T, et al.

International immunology 2020; (32(10)):663-671 doi:10.1093/intimm/dxaa043.

A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis-Like Hyperinflammation.

Boehmer DFR, Koehler LM, Magg T, et al.

The journal of allergy and clinical immunology. In practice 2020; (8(9)):3102-3111 doi:10.1016/j.jaip.2020.06.034.

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

Okada S, Asano T, Moriya K, et al.

Journal of clinical immunology 2020; (40(8)):1065-1081 doi:10.1007/s10875-020-00847-x.

Clinical and Molecular Findings in Mendelian Susceptibility to Mycobacterial Diseases: Experience From India.

Taur PD, Gowri V, Pandrowala AA, et al.

Frontiers in immunology 2021; (12()):631298 doi:10.3389/fimmu.2021.631298.

Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.

Zhang W, Chen X, Gao G, et al.

Frontiers in immunology 2021; (12()):654406 doi:10.3389/fimmu.2021.654406.

Inborn errors of STAT1 immunity.

Mizoguchi Y, Okada S

Current opinion in immunology 2021; (72()):59-64 doi:10.1016/j.coi.2021.02.009.

Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ.

Tsumura M, Miki M, Mizoguchi Y, et al.

The Journal of allergy and clinical immunology 2022; (149(1)):252-261.e6 doi:10.1016/j.jaci.2021.05.018.

Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.

Le Voyer T, Sakata S, Tsumura M, et al.

Journal of immunology (Baltimore, Md. : 1950) 2021; (207(1)):133-152 doi:10.4049/jimmunol.2001451.

Hematopoietic Stem Cell Transplantation for Patients with Autosomal Recessive Complete INF-λ Receptor 2 Deficiency: Experience in Oman.

Nazir HF, Rawas AA, Tamemi SA, et al.

Transplantation and cellular therapy 2021; (27(10)):881.e1-881.e5 doi:10.1016/j.jtct.2021.07.013.

Two novel STAT1 mutations cause Mendelian susceptibility to mycobacterial disease.

Liu Z, Zhou M, Yuan C, et al.

Biochemical and biophysical research communications 2022; (591()):124-129 doi:10.1016/j.bbrc.2021.11.036.

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.

Mendelian susceptibility to mycobacterial diseases: state of the art.

Noma K, Mizoguchi Y, Tsumura M, Okada S

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases 2022; (28(11)):1429-1434 doi:10.1016/j.cmi.2022.03.004.

Genetic and Functional Identifying of Novel STAT1 Loss-of-Function Mutations in Patients with Diverse Clinical Phenotypes.

Chen X, Chen J, Chen R, et al.

Journal of clinical immunology 2022; (42(8)):1778-1794 doi:10.1007/s10875-022-01339-w.

Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.

Ono R, Tsumura M, Shima S, et al.

Journal of clinical immunology 2023; (43(2)):466-478 doi:10.1007/s10875-022-01396-1.

A novel STAT1 loss-of-function mutation associated with Mendelian susceptibility to mycobacterial disease.

Ye F, Zhang W, Dong J, et al.

Frontiers in cellular and infection microbiology 2022; (12()):1002140 doi:10.3389/fcimb.2022.1002140.

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.

A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection.

Greybe L, Leung D, Wieselthaler N, et al.

BMC pediatrics 2023; (23(1)):378 doi:10.1186/s12887-023-04206-8.

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.

Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.

Khavandegar A, Mahdaviani SA, Zaki-Dizaji M, et al.

The Journal of allergy and clinical immunology 2024; (153(5)):1432-1444 doi:10.1016/j.jaci.2024.01.021.

Infections in Inborn Errors of STATs.

Wang C, Freeman AF

Pathogens (Basel, Switzerland) 2024; (13(11)) doi:10.3390/pathogens13110955.

Case report: A novel de novo germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Bacillus Calmette-Guerin osteomyelitis.

Lim QY, Leung D, Lam CK, et al.

Frontiers in immunology 2024; (15()):1504816 doi:10.3389/fimmu.2024.1504816.

A Norwegian cohort with STAT1-related disease - further expanding the clinical phenotype.

Martinsen KHB, Øverland T, Stray-Pedersen A, et al.

Frontiers in immunology 2025; (16()):1620291 doi:10.3389/fimmu.2025.1620291.

A Novel Compound Heterozygous Mutation in the IL12RB1 Gene Causes Susceptibility To Mycobacterium Tilburgii Infection.

Qian M, Zhou J, Chen P, et al.

Journal of clinical immunology 2025; (45(1)):133.

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.

Severe Impairment of IFN-α and IFN-γ Responses in Cells of a Patient with a Rare STAT1 Tail Segment Domain Mutation.

Xiao J, Qiu J

Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research 2025; (45(12)):385-393 doi:10.1177/10799907251389756.

Primary Hemophagocytic Lymphohistiocytosis: A Severe Immune Dysregulatory Disease with Various Genotypic Features and Outcomes: A Cross-Sectional Study from a Tertiary Pediatric Center

Öztürk AG, Haskoloğlu ZŞ, Çakmaklı HF, et al.

Turkish journal of haematology : official journal of Turkish Society of Haematology 2026; (43(1)):26-40 doi:10.4274/tjh.galenos.2025.2025.0221.

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.

Diverse Presentations of Mycobacterial Disease: a Case Series of Disseminated BCGosis in an Infant and Cutaneous Mycobacterium abscessus Infection in an Adolescent in Central India with Scoping Review of the Literature.

Choubey S, Siddiqui F, Sharda B, et al.

Maedica 2026; (21(1)):245-252 doi:10.26574/maedica.2026.21.1.245.

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.

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.

Interleukin-12: Central Roles in Immune Regulation and Disease Therapy.

Psoma A, van den Bogaart G

Immunology and cell biology 2026; doi:10.1111/imcb.70167.

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.