Research & Literature

Radiation-sensitive severe combined immunodeficiency: The arguments for and against conditioning before hematopoietic cell transplantation--what to do?

Cowan MJ, Gennery AR

The Journal of allergy and clinical immunology 2015; (136(5)):1178-85.

Severe Combined Immunodeficiency Disorders.

Chinn IK, Shearer WT

Immunology and allergy clinics of North America 2015; (35(4)):671-94.

Late Effects Surveillance Recommendations among Survivors of Childhood Hematopoietic Cell Transplantation: A Children's Oncology Group Report.

Chow EJ, Anderson L, Baker KS, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2016; (22(5)):782-95.

RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair.

Lescale C, Abramowski V, Bedora-Faure M, et al.

Nature communications 2016; (7()):10529 doi:10.1038/ncomms10529.

Guidelines for Screening, Early Diagnosis and Management of Severe Combined Immunodeficiency (SCID) in India.

Madkaikar M, Aluri J, Gupta S

Indian journal of pediatrics 2016; (83(5)):455-62 doi:10.1007/s12098-016-2059-5.

Deficiency of XLF and PAXX prevents DNA double-strand break repair by non-homologous end joining in lymphocytes.

Hung PJ, Chen BR, George R, et al.

Cell cycle (Georgetown, Tex.) 2017; (16(3)):286-295 doi:10.1080/15384101.2016.1253640.

Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.

Slack J, Albert MH, Balashov D, et al.

The Journal of allergy and clinical immunology 2018; (141(1)):322-328.e10 doi:10.1016/j.jaci.2017.02.036.

Cernunnos deficiency associated with BCG adenitis and autoimmunity: First case from the national Iranian registry and review of the literature.

Yazdani R, Abolhassani H, Tafaroji J, et al.

Clinical immunology (Orlando, Fla.) 2017; (183()):201-206 doi:10.1016/j.clim.2017.07.007.

XLF/Cernunnos: An important but puzzling participant in the nonhomologous end joining DNA repair pathway.

Menon V, Povirk LF

DNA repair 2017; (58()):29-37 doi:10.1016/j.dnarep.2017.08.003.

Evaluation of Chimerism Dynamics after Allogeneic Hematopoietic Stem Cell Transplantation in Children with Nonmalignant Diseases.

Faraci M, Bagnasco F, Leoni M, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2018; (24(5)):1088-1093 doi:10.1016/j.bbmt.2017.12.801.

An Infant with Respiratory Distress and Loose Stools.

Reddy P, Laishram D, Jindal AK, et al.

Indian pediatrics 2018; (55(8)):693-697.

Primary immunodeficiency.

McCusker C, Upton J, Warrington R

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2018; (14(Suppl 2)):61 doi:10.1186/s13223-018-0290-5.

Infectious etiology of chronic diarrhea in patients with primary immunodeficiency diseases.

Parvaneh L, Sharifi N, Azizi G, et al.

European annals of allergy and clinical immunology 2019; (51(1)):32-37 doi:10.23822/EurAnnACI.1764-1489.77.

ENDOCRINE COMPLICATIONS IN PATIENTS WITH GVHD.

Akirov A, Sawka AM, Ben-Barouch S, et al.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2019; (25(5)):485-490 doi:10.4158/EP-2018-0529.

Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation.

Recio MJ, Dominguez-Pinilla N, Perrig MS, et al.

Frontiers in immunology 2018; (9()):2959 doi:10.3389/fimmu.2018.02959.

An immunocompetent patient with a nonsense mutation in NHEJ1 gene.

Esmaeilzadeh H, Bordbar MR, Hojaji Z, et al.

BMC medical genetics 2019; (20(1)):45 doi:10.1186/s12881-019-0784-0.

Severe Combined Immunodeficiency: A Review for Neonatal Clinicians.

Michniacki TF, Seth D, Secord E

NeoReviews 2019; (20(6)):e326-e335 doi:10.1542/neo.20-6-e326.

Hematopoietic Stem Cell Transplantation for DNA Double Strand Breakage Repair Disorders.

Wolska-Kuśnierz B, Gennery AR

Frontiers in pediatrics 2019; (7()):557 doi:10.3389/fped.2019.00557.

Diagnosis of radiosensitive severe combined immunodeficiency disease (RS-SCID) by Comet Assay, management of bone marrow transplantation.

Fayez EA, Qazvini FF, Mahmoudi SM, et al.

Immunobiology 2020; (225(3)):151961 doi:10.1016/j.imbio.2020.151961.

Treosulfan-Based Conditioning Regimen in Haematopoietic Stem Cell Transplantation with TCRαβ/CD19 Depletion in Nijmegen Breakage Syndrome.

Laberko A, Sultanova E, Gutovskaya E, et al.

Journal of clinical immunology 2020; (40(6)):861-871 doi:10.1007/s10875-020-00811-9.

Update on DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency.

Slatter MA, Gennery AR

Current allergy and asthma reports 2020; (20(10)):57 doi:10.1007/s11882-020-00955-z.

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.

Strand J, Gul KA, Erichsen HC, et al.

Frontiers in immunology 2020; (11()):1417 doi:10.3389/fimmu.2020.01417.

Chronic kidney disease ten years after pediatric allogeneic hematopoietic stem cell transplantation.

Lugthart G, Jordans CCE, de Pagter APJ, et al.

Kidney international 2021; (100(4)):906-914 doi:10.1016/j.kint.2021.05.030.

Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency Patients: a Japanese Retrospective Study.

Miyamoto S, Umeda K, Kurata M, et al.

Journal of clinical immunology 2021; (41(8)):1865-1877 doi:10.1007/s10875-021-01112-5.

BCG Infection in Patients With Inborn Errors of Immunity Receiving the Russian BCG Strain.

Laberko A, Yukhacheva D, Kan N, et al.

The journal of allergy and clinical immunology. In practice 2022; (10(7)):1797-1804.e7 doi:10.1016/j.jaip.2022.03.032.

Retrospective, Landmark Analysis of Long-term Adult Morbidity Following Allogeneic HSCT for Inborn Errors of Immunity in Infancy and Childhood.

Day JW, Elfeky R, Nicholson B, et al.

Journal of clinical immunology 2022; (42(6)):1230-1243 doi:10.1007/s10875-022-01278-6.

Cernunnos defect in an Iranian patient with T- B+ NK+ severe combined immunodeficiency: A case report and review of the literature.

Jamee M, Khakbazan Fard N, Fallah S, et al.

Molecular genetics & genomic medicine 2022; (10(8)):e1990 doi:10.1002/mgg3.1990.

Quality of Life and Social and Psychological Outcomes in Adulthood Following Allogeneic HSCT in Childhood for Inborn Errors of Immunity.

Nicholson B, Goodman R, Day J, et al.

Journal of clinical immunology 2022; (42(7)):1451-1460 doi:10.1007/s10875-022-01286-6.

Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor.

Poyer F, Jimenez Heredia R, Novak W, et al.

Frontiers in immunology 2022; (13()):869047 doi:10.3389/fimmu.2022.869047.

Late endocrine effects after hematopoietic stem cell transplantation in children with nonmalignant diseases.

de Kloet LC, Bense JE, van der Stoep MYEC, et al.

Bone marrow transplantation 2022; (57(10)):1564-1572 doi:10.1038/s41409-022-01755-x.

Novel NHEJ1 pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoires.

Frizinsky S, Rechavi E, Barel O, et al.

Frontiers in pediatrics 2022; (10()):883173 doi:10.3389/fped.2022.883173.

Case Report: Mutations in JAK3 causing severe combined immunodeficiency complicated by disseminated Bacille Calmette-Guérin disease and Pneumocystis pneumonia.

Pan Y, Pan H, Lian C, et al.

Frontiers in immunology 2022; (13()):1055607 doi:10.3389/fimmu.2022.1055607.

Cernunnos deficiency: Further delineation in 5 Egyptian patients.

El Hawary R, Meshaal S, Lotfy S, et al.

European journal of medical genetics 2023; (66(10)):104840 doi:10.1016/j.ejmg.2023.104840.

Pre-implantation Genetic Testing in Inherited Metabolic Diseases? Stateof- the-art and current challenges.

Capela AM, Cunha A, Fortuna AM, Falcão Reis C

Endocrine, metabolic & immune disorders drug targets 2023; doi:10.2174/0118715303279986231211090830.

Immune recovery and the role of recent thymic emigrated T lymphocytes after pediatric hematopoietic stem cell transplantation.

Justus JLP, Beltrame MP, de Azambuja AP, et al.

Cytotherapy 2024; (26(9)):980-987 doi:10.1016/j.jcyt.2024.04.073.

Hematopoietic stem cell transplantation for primary immunodeficiency.

Alsaati N, Grier A, Ochfeld E, et al.

Allergy and asthma proceedings 2024; (45(5)):371-383 doi:10.2500/aap.2024.45.240069.

Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency

Navarro AM, Mantilla G, Fernández JA, et al.

Biomedica : revista del Instituto Nacional de Salud 2024; (44(Sp. 2)):16-21 doi:10.7705/biomedica.7414.

Relevance of Recent Thymic Emigrants Following Allogeneic Hematopoietic Cell Transplantation for Pediatric Patients with Inborn Errors of Immunity.

Drozdov D, Luo X, Marsh RA, et al.

Transplantation and cellular therapy 2025; (31(4)):265.e1-265.e12 doi:10.1016/j.jtct.2025.02.003.

BCGitis and BCGosis spectrum of imaging findings in immunocompromised pediatric patients.

Alfahad L, Khushaim A, Alhabeeb W, et al.

Pediatric radiology 2025; (55(5)):914-924 doi:10.1007/s00247-025-06182-w.

Fibroblast-based radiosensitivity assays as a clinically valuable tool for (severe) combined immunodeficiency syndromes.

Beyls E, De Beul S, Bordon V, et al.

Mutation research. Genetic toxicology and environmental mutagenesis 2025; (902()):503852 doi:10.1016/j.mrgentox.2025.503852.

Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility.

Elbadry MI, Abdelkreem E, Tawfeek A, et al.

Annals of hematology 2025; (104(3)):1633-1653 doi:10.1007/s00277-025-06257-6.

NHEJ1 Splice Variants Associated With Bone Marrow Failure and Hematologic Malignancy.

Weinstock NI, Applegate C, Peng L, et al.

Pediatric blood & cancer 2025; (72(9)):e31884 doi:10.1002/pbc.31884.

Expanding the clinical spectrum of Cernunnos/XLF deficiency: a literature review of a rare cause of severe combined immunodeficiency including a novel case.

Kabadayı G, Atay Ö, Baysal Bakır D, et al.

BMC immunology 2025; (26(1)):89 doi:10.1186/s12865-025-00774-9.

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

Liu Q, Dai X, Wei S

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

Kidney and Blood Pressure Outcomes in Children Surviving at Least 6 Months after Hematopoietic Stem Cell Transplantation: A Systematic Review and Meta-Analysis.

Sun C, Masood S, Kiyingi JJ, et al.

Transplantation and cellular therapy 2026; (32(9)):1146-1174 doi:10.1016/j.jtct.2026.01.028.

[Clinical and immunological evaluation of patients with inborn errors of immunity after hematopoietic cell transplantation].

Llarens A, Cabanillas D, Tejada MP, et al.

Archivos argentinos de pediatria 2026; (124(5)):e202611024 doi:10.5546/aap.2026-11024.

Hospital dental management as an adjunct to systemic therapy in refractory oral candidiasis in severe combined immunodeficiency.

Delgado RZR, Pastorino AC, Franco JB

Oral surgery, oral medicine, oral pathology and oral radiology 2026; (142(3)):e11-e16 doi:10.1016/j.oooo.2026.05.008.

Late effects after allogeneic hematopoietic stem cell transplantation in patients with primary immunodeficiency.

Grubliauskaitė G, Mulevičienė A, Rascon J

Frontiers in immunology 2026; (17()):1752700 doi:10.3389/fimmu.2026.1752700.