Research & Literature

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.

Okada S, Markle JG, Deenick EK, et al.

Science (New York, N.Y.) 2015; (349(6248)):606-613 doi:10.1126/science.aaa4282.

Disseminated Bacillus Calmette-Guérin and Susceptibility to Mycobacterial Infections-Implications on Bacillus Calmette-Guérin Vaccinations.

Lee PP

Annals of the Academy of Medicine, Singapore 2015; (44(8)):297-301.

Executive Summary: Official American Thoracic Society/Centers for Disease Control and Prevention/Infectious Diseases Society of America Clinical Practice Guidelines: Treatment of Drug-Susceptible Tuberculosis.

Nahid P, Dorman SE, Alipanah N, et al.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2016; (63(7)):853-67 doi:10.1093/cid/ciw566.

Disseminated bacille Calmette-Guérin disease in Saudi children: clinical profile, microbiology, immunology evaluation and outcome.

Bukhari E, Alaklobi F, Bakheet H, et al.

European review for medical and pharmacological sciences 2016; (20(17)):3696-702.

Vaccination in Primary Immunodeficiency Disorders.

Sobh A, Bonilla FA

The journal of allergy and clinical immunology. In practice 2016; (4(6)):1066-1075 doi:10.1016/j.jaip.2016.09.012.

Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity.

Okada S, Puel A, Casanova JL, Kobayashi M

Clinical & translational immunology 2016; (5(12)):e114 doi:10.1038/cti.2016.71.

Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients.

Tan Ç, Çağdaş-Ayvaz D, Metin A, et al.

The Turkish journal of pediatrics 2016; (58(4)):356-361 doi:10.24953/turkjped.2016.04.002.

RORγt and RORα signature genes in human Th17 cells.

Castro G, Liu X, Ngo K, et al.

PloS one 2017; (12(8)):e0181868 doi:10.1371/journal.pone.0181868.

Oesophageal candidiasis and squamous cell cancer in patients with gain-of-function STAT1 gene mutation.

Koo S, Kejariwal D, Al-Shehri T, et al.

United European gastroenterology journal 2017; (5(5)):625-631 doi:10.1177/2050640616684404.

Measurement and Estimation of Glomerular Filtration Rate in Children.

Mian AN, Schwartz GJ

Advances in chronic kidney disease 2017; (24(6)):348-356 doi:10.1053/j.ackd.2017.09.011.

A 25-year surveillance of disseminated Bacillus Calmette-Guérin disease treatment in children in Southern Iran.

Amanati A, Pouladfar G, Kadivar MR, et al.

Medicine 2017; (96(52)):e9035 doi:10.1097/MD.0000000000009035.

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.

Mendelian susceptibility to mycobacterial disease: 2014-2018 update.

Rosain J, Kong XF, Martinez-Barricarte R, et al.

Immunology and cell biology 2019; (97(4)):360-367 doi:10.1111/imcb.12210.

Evaluation of interleukin-12 receptor β1 and interferon gamma receptor 1 deficiency in patients with disseminated BCG infection.

Pourakbari B, Hosseinpour Sadeghi R, Mahmoudi S, et al.

Allergologia et immunopathologia 2019; (47(1)):38-42 doi:10.1016/j.aller.2018.06.005.

A Syrian Refugee in Iraq Diagnosed as a Case of IL12RB1 Deficiency in Japan Using Dried Blood Spots.

Al-Kzayer LFY, Yassin AK, Salih KH, et al.

Frontiers in immunology 2019; (10()):58 doi:10.3389/fimmu.2019.00058.

Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity.

Pöyhönen L, Bustamante J, Casanova JL, et al.

Journal of clinical immunology 2019; (39(4)):376-390 doi:10.1007/s10875-019-00642-3.

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.

The application of HPLC/MS analysis with a multi-enzyme digest strategy to characterize different interferon product variants produced from Pichia pastoris.

Wang Y, Liu D, Crowell LE, et al.

Amino acids 2019; (51(9)):1353-1363 doi:10.1007/s00726-019-02772-9.

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.

Spectrum of Inborn errors of immunity in a cohort of 90 patients presenting with complications to BCG vaccination in India.

Yadav RM, Dalvi A, Gupta M, et al.

Scandinavian journal of immunology 2021; (93(5)):e13010 doi:10.1111/sji.13010.

[Disseminated infection caused by the bacillus Calmette-Guérin vaccine and SARS-CoV-2 coinfection in a patient with IL-12 receptor β1 subunit deficiency].

Allen-Manzur JG, Espinosa-Padilla SE, Bustamante J, et al.

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) 2020; (67(4)):401-407 doi:10.29262/ram.v67i4.798.

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.

Development of a Multiplex Real-Time PCR Assay for Mycobacterium bovis BCG and Validation in a Clinical Laboratory.

Duffy SC, Venkatesan M, Chothe S, et al.

Microbiology spectrum 2021; (9(2)):e0109821 doi:10.1128/Spectrum.01098-21.

Phenotypic and immune functional profiling of patients with suspected Mendelian Susceptibility to Mycobacterial Disease in South Africa.

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

BMC immunology 2021; (22(1)):62 doi:10.1186/s12865-021-00452-6.

Small molecule allosteric inhibitors of RORγt block Th17-dependent inflammation and associated gene expression in vivo.

Saenz SA, Local A, Carr T, et al.

PloS one 2021; (16(11)):e0248034 doi:10.1371/journal.pone.0248034.

Mendelian susceptibility to mycobacterial disease in tuberculosis-hyperendemic South Africa.

Cornelissen HM, Glanzmann B, Van Coller A, et al.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2021; (111(10)):998-1005 doi:10.7196/SAMJ.2021.v111i10.15341.

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.

Immunizing the imperfect immune system: Coronavirus disease 2019 vaccination in patients with inborn errors of immunity.

Durkee-Shock JR, Keller MD

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2022; (129(5)):562-571.e1 doi:10.1016/j.anai.2022.06.009.

Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in a 13-Year-Old Ethiopian Girl with Autosomal Dominant Interferon Gamma Receptor 1(IFN-γ R1) Defect: A Clinical Diagnostic and Treatment Challenge.

Gebeyehu NA, Deribessa SJ, Alexandra F, et al.

Case reports in infectious diseases 2022; (2022()):6534009 doi:10.1155/2022/6534009.

An Updated Review on MSMD Research Globally and A Literature Review on the Molecular Findings, Clinical Manifestations, and Treatment Approaches in China.

Xia L, Liu XH, Yuan Y, et al.

Frontiers in immunology 2022; (13()):926781 doi:10.3389/fimmu.2022.926781.

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.

Autosomal dominant chronic mucocutaneous candidiasis with STAT1 mutation can be associated with chronic active hepatitis: A case report.

Liu L, Huang Y, Liao Y, Shu S

Frontiers in pediatrics 2022; (10()):990729 doi:10.3389/fped.2022.990729.

[Recommendations for care, prevention of infections and chemoprophylaxis in inborn errors of immunity].

Villa M, Merhar C, Nievas E, et al.

Archivos argentinos de pediatria 2023; (121(1)):e202202885 doi:10.5546/aap.2022-02885.

Fatal Severe Cytokine Release Syndrome Post-haploidentical Stem Cell Transplant With Post-transplant Cyclophosphamide in an Infant With Severe Combined Immunodeficiency and Disseminated Bacille Calmette-Guérin Infection.

Arora S, Upasana K, Thakkar D, et al.

Journal of pediatric hematology/oncology 2023; (45(6)):e773-e774 doi:10.1097/MPH.0000000000002700.

Disseminated BCG infection revealing a severe combined immunodeficiency: A case report.

Ben Belgacem H, Bouguila J, Tej A, et al.

La Tunisie medicale 2022; (100(12)):881-886.

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.

Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.

Rosain J, Kiykim A, Michev A, et al.

Journal of clinical immunology 2024; (44(3)):62 doi:10.1007/s10875-024-01661-5.

Assistance of next-generation sequencing for diagnosis of disseminated Bacillus Calmette-Guerin disease with X-SCID in an infant: a case report and literature review.

Zhang H, Liao Y, Zhu Z, et al.

Frontiers in cellular and infection microbiology 2024; (14()):1341236 doi:10.3389/fcimb.2024.1341236.

Mendelian Susceptibility to Mycobacterial Disease with Signal Peptide Peptidase-like 2A (SPPL2A) Deficiency: A Case Report.

Esmaeilzadeh H, Pouladfar G, Gholami MA, Mohtadi H

Iranian journal of allergy, asthma, and immunology 2024; (23(5)):588-593 doi:10.18502/ijaai.v23i5.16753.

Clinical characteristics and genetic features of 35 cases of adverse reactions to Bacillus Calmette-Guérin vaccine in children.

Chen H, Yang X, Huang Y, et al.

Frontiers in cellular and infection microbiology 2025; (15()):1570382 doi:10.3389/fcimb.2025.1570382.

Characteristics of patients with disseminated Bacillus Calmette-Guérin infection: a retrospective study at Namazi Hospital, Southern Iran, from 1991 to 2022.

Sanaei Dashti A, Soflaee Shahrbabak S, Malekzadeh Y, et al.

Journal of tropical pediatrics 2025; (71(4)) doi:10.1093/tropej/fmaf023.

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.

BCGitis and BCGosis: Clinical Spectrum, Immunological Mechanisms, and Risk Management.

Liu Q, Dai X, Wei S

Vaccines 2025; (13(12)) doi:10.3390/vaccines13121179.

Case report: IL12RB1 deficiency in an infant with disseminated Bacille Calmette-Guérin disease.

Ma X, Chen J, Cheng J, Wang J

Frontiers in immunology 2025; (16()):1728612 doi:10.3389/fimmu.2025.1728612.

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.

Novel indications for hematopoietic stem cell transplantation in inborn errors of immunity.

Laberko A, Gennery AR

Expert review of clinical immunology 2026; (22(2)):183-193 doi:10.1080/1744666X.2026.2641540.

Mendelian susceptibility to mycobacterial disease: Clinical, immunological, and genetic study in India.

Dalvi A, Temkar L, Desai M, et al.

Journal of human immunity 2026; (2(1)):e20250153 doi:10.70962/jhi.20250153.

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.

Temporally Resolved Single-Cell RNA Sequencing Reveals Pathogenesis and Immune Responses in Intracerebral Bacille Calmette-Guérin (BCG) Infection.

Xie S, Wang H, Huang S, et al.

Pathogens (Basel, Switzerland) 2026; (15(5)) doi:10.3390/pathogens15050531.

Inborn errors of immunity: a structured model for paediatric-to-adult transition of care.

Civino A, Diomeda F, D'Orio C, et al.

Frontiers in immunology 2026; (17()):1813944 doi:10.3389/fimmu.2026.1813944.

Disseminated BCGosis in immunocompromised infants: a five-case series in the context of a national BCG vaccination policy change.

Alhusaini W, Sanyour G, Kutbi R, et al.

BMC pediatrics 2026; (26(1)).

Shared Decision-Making and Health-Related Quality of Life in the Diagnosis and Management of Patients With Inborn Errors of Immunity.

Lawrence MG, Kim VHD, Orange JS, Scherzer R

The journal of allergy and clinical immunology. In practice 2026; doi:10.1016/j.jaip.2026.07.010.

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.

Human inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity.

Fagniez I, Tsumura M, Guerin A, et al.

medRxiv : the preprint server for health sciences 2026; doi:10.64898/2026.07.18.26358075.

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.

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.