Research & Literature

Gene therapy outpaces haplo for SCID-X1.

Kohn DB

Blood 2015; (125(23)):3521-2 doi:10.1182/blood-2015-04-641720.

Prevention of Cytomegalovirus Transmission via Breast Milk in Extremely Low Birth Weight Infants.

Yoo HS, Sung SI, Jung YJ, et al.

Yonsei medical journal 2015; (56(4)):998-1006 doi:10.3349/ymj.2015.56.4.998.

Discrepancy in impact of maternal milk on vertical transmission between Hepatitis B virus and Human cytomegalovirus.

Wang T, Wang M, Duan G, et al.

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 2015; (37()):1-5.

Severe Combined Immunodeficiency Disorders.

Chinn IK, Shearer WT

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

Review of Cutaneous Graft-vs-Host Disease.

Ballester-Sánchez R, Navarro-Mira M, Sanz-Caballer J, Botella-Estrada R

Actas dermo-sifiliograficas 2016; (107(3)):183-93.

[HLA- haploidentical donor hematopoietic transplantation for severe aplastic anemia achieved comparable outcomes with HLA- unrelated donor transplantation].

Lu Y, Wu T, Cao X, et al.

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2016; (37(1)):35-8 doi:10.3760/cma.j.issn.0253-2727.2016.01.007.

Recent advances in treatment of severe primary immunodeficiencies.

Gennery A

F1000Research 2015; (4()).

Invasive Aspergillosis in Hematological Patients.

Kimura S

Medical mycology journal 2016; (57(2)):J77-88 doi:10.3314/mmj.57.J77.

Postnatal Cytomegalovirus Infection Through Human Milk in Preterm Infants: Transmission, Clinical Presentation, and Prevention.

Hamprecht K, Goelz R

Clinics in perinatology 2017; (44(1)):121-130 doi:10.1016/j.clp.2016.11.012.

Long-term outcome of hematopoietic stem cell transplantation for IL2RG/JAK3 SCID: a cohort report.

Abd Hamid IJ, Slatter MA, McKendrick F, et al.

Blood 2017; (129(15)):2198-2201 doi:10.1182/blood-2016-11-748616.

Humoral Immune Reconstitution Kinetics after Allogeneic Hematopoietic Stem Cell Transplantation in Children: A Maturation Block of IgM Memory B Cells May Lead to Impaired Antibody Immune Reconstitution.

Abdel-Azim H, Elshoury A, Mahadeo KM, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2017; (23(9)):1437-1446 doi:10.1016/j.bbmt.2017.05.005.

Flow cytometry-based diagnosis of primary immunodeficiency diseases.

Kanegane H, Hoshino A, Okano T, et al.

Allergology international : official journal of the Japanese Society of Allergology 2018; (67(1)):43-54 doi:10.1016/j.alit.2017.06.003.

Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID): Molecular Pathogenesis and Clinical Manifestations.

Bradford KL, Moretti FA, Carbonaro-Sarracino DA, et al.

Journal of clinical immunology 2017; (37(7)):626-637 doi:10.1007/s10875-017-0433-3.

Approaches to the removal of T-lymphocytes to minimize graft-versus-host disease in patients with primary immunodeficiencies who do not have a matched sibling donor.

Slatter MA, Gennery AR

Current opinion in allergy and clinical immunology 2017; (17(6)):414-420 doi:10.1097/ACI.0000000000000402.

A 2-year comparative study of mold and bacterial counts in air samples from neutral and positive pressure rooms in 2 tertiary care hospitals.

Ryan L, O'Mara N, Tansey S, et al.

American journal of infection control 2018; (46(5)):590-593 doi:10.1016/j.ajic.2017.10.019.

B-cell differentiation and IL-21 response in IL2RG/JAK3 SCID patients after hematopoietic stem cell transplantation.

Miggelbrink AM, Logan BR, Buckley RH, et al.

Blood 2018; (131(26)):2967-2977 doi:10.1182/blood-2017-10-809822.

Long-Term Health Outcome and Quality of Life Post-HSCT for IL7Rα-, Artemis-, RAG1- and RAG2-Deficient Severe Combined Immunodeficiency: a Single Center Report.

Abd Hamid IJ, Slatter MA, McKendrick F, et al.

Journal of clinical immunology 2018; (38(6)):727-732 doi:10.1007/s10875-018-0540-9.

SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery.

Haddad E, Logan BR, Griffith LM, et al.

Blood 2018; (132(17)):1737-1749 doi:10.1182/blood-2018-03-840702.

Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.

Kohn DB, Hershfield MS, Puck JM, et al.

The Journal of allergy and clinical immunology 2019; (143(3)):852-863 doi:10.1016/j.jaci.2018.08.024.

Hematopoietic Stem Cell Transplantation for Primary Immunodeficiency Disorders: Experience from a Referral Center in India.

Uppuluri R, Jayaraman D, Sivasankaran M, et al.

Indian pediatrics 2018; (55(8)):661-664.

Short-term Pasteurization of Breast Milk to Prevent Postnatal Cytomegalovirus Transmission in Very Preterm Infants.

Bapistella S, Hamprecht K, Thomas W, et al.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2019; (69(3)):438-444 doi:10.1093/cid/ciy945.

Better Control of Holder Pasteurization Results in Higher Retention of Human Milk Lactoferrin, IgA, and Lysozyme.

Buffin R, Hays S, Drai J, et al.

Frontiers in pediatrics 2018; (6()):381 doi:10.3389/fped.2018.00381.

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.

Puck JM

Immunological reviews 2019; (287(1)):241-252 doi:10.1111/imr.12729.

Persistent systemic rotavirus vaccine infection in a child with X-linked severe combined immunodeficiency.

Yoshikawa T, Ihira M, Higashimoto Y, et al.

Journal of medical virology 2019; (91(6)):1008-1013 doi:10.1002/jmv.25410.

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.

Aluri J, Desai M, Gupta M, et al.

Frontiers in immunology 2019; (10()):23 doi:10.3389/fimmu.2019.00023.

Clinical Features and HSCT Outcome for SCID in Turkey.

Ikinciogullari A, Cagdas D, Dogu F, et al.

Journal of clinical immunology 2019; (39(3)):316-323 doi:10.1007/s10875-019-00610-x.

An overview of how on-call consultant paediatricians can recognise and manage severe primary immunodeficiencies.

Wekell P, Hertting O, Holmgren D, Fasth A

Acta paediatrica (Oslo, Norway : 1992) 2019; (108(12)):2175-2185 doi:10.1111/apa.14930.

Newborn Screening for Severe Combined Immunodeficiency.

Taki M, Miah T, Secord E

Pediatric clinics of North America 2019; (66(5)):913-923 doi:10.1016/j.pcl.2019.06.007.

Long Term Outcome and Immune Function After Hematopoietic Stem Cell Transplantation for Primary Immunodeficiency.

Gennery AR, Lankester A,

Frontiers in pediatrics 2019; (7()):381 doi:10.3389/fped.2019.00381.

Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).

Martin-Nalda A, Cueto-González AM, Argudo-Ramírez A, et al.

Molecular genetics & genomic medicine 2019; (7(12)):e1016 doi:10.1002/mgg3.1016.

Persistent Infection with Rotavirus Vaccine Strain in Severe Combined Immunodeficiency (SCID) Child: Is Rotavirus Vaccination in SCID Children a Janus Face?

De Francesco MA, Ianiro G, Monini M, et al.

Vaccines 2019; (7(4)) doi:10.3390/vaccines7040185.

An Overview of Advances in Cell-Based Cancer Immunotherapies Based on the Multiple Immune-Cancer Cell Interactions.

Zhang J, Späth SS, Weissman SM, Katz SG

Methods in molecular biology (Clifton, N.J.) 2020; (2097()):139-171 doi:10.1007/978-1-0716-0203-4_10.

Variability in practice patterns regarding protective isolation measures after heart transplantation: A secondary analysis of the international BRIGHT study.

Alaerts E, Dreesen C, Denhaerynck K, et al.

American journal of infection control 2020; (48(7)):786-790 doi:10.1016/j.ajic.2019.11.012.

Gene therapy and genome editing for primary immunodeficiency diseases.

Zhang ZY, Thrasher AJ, Zhang F

Genes & diseases 2020; (7(1)):38-51 doi:10.1016/j.gendis.2019.07.007.

Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers.

Dorsey MJ, Wright NAM, Chaimowitz NS, et al.

Journal of clinical immunology 2021; (41(1)):38-50 doi:10.1007/s10875-020-00865-9.

Whole-exome sequencing of T- B+ severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants.

El Hawary R, Meshaal S, Mauracher AA, et al.

Clinical and experimental immunology 2021; (203(3)):448-457 doi:10.1111/cei.13536.

Treatment of patients with immunodeficiency: Medication, gene therapy, and transplantation.

Segundo GRS, Condino-Neto A

Jornal de pediatria 2021; (97 Suppl 1()):S17-S23 doi:10.1016/j.jped.2020.10.005.

When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a Case-Based Review.

Buchbinder D, Walter JE, Butte MJ, et al.

Journal of clinical immunology 2021; (41(2)):294-302 doi:10.1007/s10875-020-00931-2.

Evaluation of the role of the clinical Nurse Specialist in cancer care: an integrative literature review.

Kerr H, Donovan M, McSorley O

European journal of cancer care 2021; (30(3)):e13415 doi:10.1111/ecc.13415.

Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases.

Nishimura A, Aoki Y, Ishiwata Y, et al.

Journal of clinical immunology 2021; (41(5)):944-957 doi:10.1007/s10875-021-00966-z.

Donor-Host Lineage-Specific Chimerism Monitoring and Analysis in Pediatric Patients Following Allogeneic Stem Cell Transplantation: Influence of Pretransplantation Variables and Correlation with Post-Transplantation Outcomes.

Llaurador G, Nicoletti E, Prockop SE, et al.

Transplantation and cellular therapy 2021; (27(9)):780.e1-780.e14 doi:10.1016/j.jtct.2021.05.020.

Newborn Screening for Severe Combined Immunodeficiency: Do Preterm Infants Require Special Consideration?

Atkins AE, Cogley MF, Baker MW

International journal of neonatal screening 2021; (7(3)) doi:10.3390/ijns7030040.

Standardizing Definitions of Hematopoietic Recovery, Graft Rejection, Graft Failure, Poor Graft Function, and Donor Chimerism in Allogeneic Hematopoietic Cell Transplantation: A Report on Behalf of the American Society for Transplantation and Cellular Therapy.

Kharfan-Dabaja MA, Kumar A, Ayala E, et al.

Transplantation and cellular therapy 2021; (27(8)):642-649 doi:10.1016/j.jtct.2021.04.007.

Severe Combined Immunodeficiency (SCID)-the Irish Experience.

Burns H, Collins A, Marsden P, et al.

Journal of clinical immunology 2021; (41(8)):1950-1953 doi:10.1007/s10875-021-01106-3.

Establishing Newborn Screening for SCID in the USA; Experience in California.

Puck JM, Gennery AR

International journal of neonatal screening 2021; (7(4)) doi:10.3390/ijns7040072.

Brazilian Nutritional Consensus in Hematopoietic Stem Cell Transplantation: children and adolescents.

Nabarrete JM, Pereira AZ, Garófolo A, et al.

Einstein (Sao Paulo, Brazil) 2021; (19()):eAE5254 doi:10.31744/einstein_journal/2021AE5254.

Flow Cytometry Confirmation Post Newborn Screening for SCID in England.

Gilmour KC

International journal of neonatal screening 2021; (8(1)) doi:10.3390/ijns8010001.

Diagnosis and Treatment of a Patient With Severe Combined Immunodeficiency Due to a Novel Homozygous Mutation in the IL-7Rα Chain.

Mansour R, Bsat YE, Fadel A, et al.

Frontiers in immunology 2022; (13()):867837 doi:10.3389/fimmu.2022.867837.

Investigation of the causal etiology in a patient with T-B+NK+ immunodeficiency.

Sertori R, Lin JX, Martinez E, et al.

Frontiers in immunology 2022; (13()):928252 doi:10.3389/fimmu.2022.928252.

The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.

Dvorak CC, Haddad E, Heimall J, et al.

The Journal of allergy and clinical immunology 2023; (151(2)):547-555.e5 doi:10.1016/j.jaci.2022.10.021.

The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.

Dvorak CC, Haddad E, Heimall J, et al.

The Journal of allergy and clinical immunology 2023; (151(2)):539-546 doi:10.1016/j.jaci.2022.10.022.

Long-Term Immune Reconstitution in ADA-Deficient Patients Treated With Elapegademase: A Real-World Experience.

Murguia-Favela L, Suresh S, Wright NAM, et al.

The journal of allergy and clinical immunology. In practice 2023; (11(6)):1725-1733 doi:10.1016/j.jaip.2023.01.028.

Distribution and the trend of airborne particles and bio-aerosol concentration in pediatric intensive care units with different ventilation setting at two hospitals in Riyadh, Saudi Arabia.

Alghamdi W, Neamatallah AA, Alshamrani MM, et al.

Journal of infection and public health 2023; (16(4)):588-595 doi:10.1016/j.jiph.2023.02.015.

Case report: HLA-haploidentical HSCT rescued with donor lymphocytes infusions in a patient with X-linked chronic granulomatous disease.

Scheiermann J, Künkele A, von Stackelberg A, et al.

Frontiers in immunology 2023; (14()):1042650 doi:10.3389/fimmu.2023.1042650.

Positive Newborn Screening for Severe Combined Immunodeficiency: What Should the Pediatrician Do?

Mongkonsritragoon W, Huang J, Fredrickson M, et al.

Clinical medicine insights. Pediatrics 2023; (17()):11795565231162839 doi:10.1177/11795565231162839.

Severe Combined Immunodeficiency-Classification, Microbiology Association and Treatment.

Justiz-Vaillant AA, Gopaul D, Akpaka PE, et al.

Microorganisms 2023; (11(6)) doi:10.3390/microorganisms11061589.

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.

Posttransplantation late complications increase over time for patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study.

Eissa H, Thakar MS, Shah AJ, et al.

The Journal of allergy and clinical immunology 2024; (153(1)):287-296 doi:10.1016/j.jaci.2023.09.027.

Advances in gene therapy for inborn errors of immunity.

Ott de Bruin LM, Lankester AC, Staal FJT

Current opinion in allergy and clinical immunology 2023; (23(6)):467-477 doi:10.1097/ACI.0000000000000952.

Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutations.

Castiello MC, Di Verniere M, Draghici E, et al.

Frontiers in immunology 2023; (14()):1268620 doi:10.3389/fimmu.2023.1268620.

Posttransplant complications in patients with marrow failure syndromes: are we improving long-term outcomes?

Hudda Z, Myers KC

Hematology. American Society of Hematology. Education Program 2023; (2023(1)):141-148 doi:10.1182/hematology.2023000471.

Severe combined immunodeficiency diagnosis and genetic defects.

Aranda CS, Gouveia-Pereira MP, da Silva CJM, et al.

Immunological reviews 2024; (322(1)):138-147 doi:10.1111/imr.13310.

Flow cytometry quantification of tumor-infiltrating lymphocytes to predict the survival of patients with diffuse large B-cell lymphoma.

Yu T, Xu-Monette ZY, Lagoo A, et al.

Frontiers in immunology 2024; (15()):1335689 doi:10.3389/fimmu.2024.1335689.

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.

Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency.

Hicks ED, Hall G, Hershfield MS, et al.

Journal of clinical immunology 2024; (44(5)):107 doi:10.1007/s10875-024-01710-z.

Survival After Hematopoietic Stem Cell Transplantation in Severe Combined Immunodeficiency (SCID): A Worldwide Review of the Prognostic Variables.

Goebel GA, de Assis CS, Cunha LAO, et al.

Clinical reviews in allergy & immunology 2024; (66(2)):192-209 doi:10.1007/s12016-024-08993-5.

Flow cytometry-based diagnostic approach for inborn errors of immunity: experience from Algeria.

Tahiat A, Belbouab R, Yagoubi A, et al.

Frontiers in immunology 2024; (15()):1402038 doi:10.3389/fimmu.2024.1402038.

Late effects following hematopoietic cell transplantation for severe combined immunodeficiency: critical factors and therapeutic options.

Eissa H, Cowan MJ, Heimall J

Expert review of clinical immunology 2025; (21(1)):73-82 doi:10.1080/1744666X.2024.2402948.

BCG vaccination in children with severe combined immunodeficiency in a tertiary center: evaluation of complications and risks.

Botaro MH, Maria E Silva J, Jamra SRA, et al.

Jornal de pediatria 2025; (101(2)):224-230 doi:10.1016/j.jped.2024.09.008.

A practical approach to investigating nosocomial acquisition of Aspergillus.

Meijer EFJ, Marek A, Ramage G, et al.

Medical mycology 2025; (63(2)) doi:10.1093/mmy/myaf007.

Outcome of hematopoietic stem cell transplantation for severe combined immunodeficiency and impact of newborn screening on overall survival: A single referral center study.

Anchoo C, Lev A, Simon AJ, et al.

The Journal of allergy and clinical immunology 2025; (155(6)):1800-1812 doi:10.1016/j.jaci.2025.01.029.

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.

Tackling Infectious Diseases in the Caribbean and South America: Epidemiological Insights, Antibiotic Resistance, Associated Infectious Diseases in Immunological Disorders, Global Infection Response, and Experimental Anti-Idiotypic Vaccine Candidates Against Microorganisms of Public Health Importance.

Justiz-Vaillant A, Soodeen S, Gopaul D, et al.

Microorganisms 2025; (13(2)) doi:10.3390/microorganisms13020282.

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.

Preclinical ex vivo IL2RG gene therapy using autologous hematopoietic stem cells as an effective and safe treatment for X-linked severe combined immunodeficiency disease.

Hu M, Xu Q, Zhang F, et al.

Genes & diseases 2025; (12(3)):101445 doi:10.1016/j.gendis.2024.101445.

Current status of BCG and OPV vaccination in children with primary immunodeficiency in Chongqing, China.

Liu Y, Zhang Y, Ning Y, et al.

Medicine 2025; (104(40)):e44935 doi:10.1097/MD.0000000000044935.

Long-Term Safety and Efficacy of Gene Therapy for Adenosine Deaminase Deficiency.

Booth C, Masiuk K, Vazouras K, et al.

The New England journal of medicine 2025; (393(15)):1486-1497 doi:10.1056/NEJMoa2502754.

The Pediatric Clinician's Approach to Referring Children and Adolescents with Sickle Cell Disease for Potentially Curative Therapies.

John TD, Krishnamurti L

Pediatric clinics of North America 2026; (73(1)):203-218 doi:10.1016/j.pcl.2025.08.018.

Radiation sensitivity in genetic tumour syndromes and how to test for them.

Distel LV, Hildebrand LS, Kuhlmann LCF, Vogel RKG

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 2025; (37(4)):313-320 doi:10.1515/medgen-2025-2041.

Immunological landscape of colorectal cancer: tumor microenvironment, cellular players and immunotherapeutic opportunities.

Andac-Aktas AB, Calibasi-Kocal G

Frontiers in molecular biosciences 2025; (12()):1687556 doi:10.3389/fmolb.2025.1687556.

Breast Milk-acquired Cytomegalovirus Infection in Premature or Very Low Birth Weight Infants: A Systematic Review.

Valente Dias J, Marçal M, Tuna M

The Pediatric infectious disease journal 2026; (45(6)):529-535 doi:10.1097/INF.0000000000005120.

Functional Characterization of an IL2RG Variant, a Case Report of X-Linked T- B + NK + SCID.

Assing K, Christensen EB, Dellgren C, et al.

Immunity, inflammation and disease 2025; (13(12)):e70307 doi:10.1002/iid3.70307.

Optimizing limited antibody panels for efficient hematological disorders diagnosis by flow cytometry in resource-constrained setting.

Yousafzai Y, Mir A, Hameed M, et al.

Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2026; doi:10.1007/s12094-025-04215-2.