Research & Literature

Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville.

de Felipe B, Olbrich P, Lucenas JM, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2016; (27(1)):70-7 doi:10.1111/pai.12501.

Decline of FOXN1 gene expression in human thymus correlates with age: possible epigenetic regulation.

Reis MD, Csomos K, Dias LP, et al.

Immunity & ageing : I & A 2015; (12()):18 doi:10.1186/s12979-015-0045-9.

Adverse events following immunization in patients with primary immunodeficiencies.

Sarmiento JD, Villada F, Orrego JC, et al.

Vaccine 2016; (34(13)):1611-1616 doi:10.1016/j.vaccine.2016.01.047.

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.

FOXN1 in thymus organogenesis and development.

Vaidya HJ, Briones Leon A, Blackburn CC

European journal of immunology 2016; (46(8)):1826-37 doi:10.1002/eji.201545814.

ECIL guidelines for preventing Pneumocystis jirovecii pneumonia in patients with haematological malignancies and stem cell transplant recipients.

Maertens J, Cesaro S, Maschmeyer G, et al.

The Journal of antimicrobial chemotherapy 2016; (71(9)):2397-404 doi:10.1093/jac/dkw157.

FOXN1 deficient nude severe combined immunodeficiency.

Rota IA, Dhalla F

Orphanet journal of rare diseases 2017; (12(1)):6 doi:10.1186/s13023-016-0557-1.

Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience.

Fazlollahi MR, Pourpak Z, Hamidieh AA, et al.

Journal of investigational allergology & clinical immunology 2017; (27(5)):299-304 doi:10.18176/jiaci.0147.

FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches.

Gallo V, Cirillo E, Giardino G, Pignata C

Journal of clinical immunology 2017; (37(8)):751-758 doi:10.1007/s10875-017-0445-z.

A comparison of TRECs and flow cytometry for naive T cell quantification.

Adams SP, Kricke S, Ralph E, et al.

Clinical and experimental immunology 2018; (191(2)):198-202 doi:10.1111/cei.13062.

Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.

Bradshaw G, Lualhati RR, Albury CL, et al.

Frontiers in immunology 2018; (9()):420 doi:10.3389/fimmu.2018.00420.

Newborn Screening for Severe Combined Immunodeficiency.

Routes J, Verbsky J

Current allergy and asthma reports 2018; (18(6)):34 doi:10.1007/s11882-018-0783-9.

Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).

Kuo CY, Signer R, Saitta SC

Current allergy and asthma reports 2018; (18(12)):75 doi:10.1007/s11882-018-0823-5.

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.

Pneumocystis jiroveci in solid organ transplantation: Guidelines from the American Society of Transplantation Infectious Diseases Community of Practice.

Fishman JA, Gans H,

Clinical transplantation 2019; (33(9)):e13587 doi:10.1111/ctr.13587.

Bacille Calmette-Guerin (BCG) complications in children with severe combined immunodeficiency (SCID).

Barkai G, Somech R, Stauber T, et al.

Infectious diseases (London, England) 2019; (51(8)):585-592 doi:10.1080/23744235.2019.1628354.

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.

Survey of Infection Control Precautions for Patients with Severe Combined Immune Deficiency.

Dergousoff BA, Vayalumkal JV, Wright NAM

Journal of clinical immunology 2019; (39(8)):753-761 doi:10.1007/s10875-019-00671-y.

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.

Bosticardo M, Yamazaki Y, Cowan J, et al.

American journal of human genetics 2019; (105(3)):549-561 doi:10.1016/j.ajhg.2019.07.014.

FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans.

Du Q, Huynh LK, Coskun F, et al.

The Journal of clinical investigation 2019; (129(11)):4724-4738.

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.

Inborn errors of thymic stromal cell development and function.

Kreins AY, Maio S, Dhalla F

Seminars in immunopathology 2021; (43(1)):85-100 doi:10.1007/s00281-020-00826-9.

Clinical and Immunological Features of 96 Moroccan Children with SCID Phenotype: Two Decades' Experience.

Benhsaien I, Ailal F, El Bakkouri J, et al.

Journal of clinical immunology 2021; (41(3)):631-638 doi:10.1007/s10875-020-00960-x.

Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts.

Hale JE, Platt CD, Bonilla FA, et al.

The journal of allergy and clinical immunology. In practice 2021; (9(5)):2060-2067.e2 doi:10.1016/j.jaip.2021.02.006.

Current and Future Therapeutic Approaches for Thymic Stromal Cell Defects.

Kreins AY, Bonfanti P, Davies EG

Frontiers in immunology 2021; (12()):655354 doi:10.3389/fimmu.2021.655354.

High-Oxygen Submersion Fetal Thymus Organ Cultures Enable FOXN1-Dependent and -Independent Support of T Lymphopoiesis.

Han J, Zúñiga-Pflücker JC

Frontiers in immunology 2021; (12()):652665 doi:10.3389/fimmu.2021.652665.

Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment.

Collins C, Sharpe E, Silber A, et al.

Journal of clinical immunology 2021; (41(5)):881-895 doi:10.1007/s10875-021-01059-7.

Care of Children with DiGeorge Before and After Cultured Thymus Tissue Implantation.

Gupton SE, McCarthy EA, Markert ML

Journal of clinical immunology 2021; (41(5)):896-905 doi:10.1007/s10875-021-01044-0.

Newborn screening for severe combined immunodeficiency-Coming to a region near you soon.

Elliman DAC, Gennery AR

Clinical and experimental immunology 2021; (205(3)):343-345 doi:10.1111/cei.13642.

Experience with cultured thymus tissue in 105 children.

Markert ML, Gupton SE, McCarthy EA

The Journal of allergy and clinical immunology 2022; (149(2)):747-757 doi:10.1016/j.jaci.2021.06.028.

Trends in TREC values according to age and gender in Chinese children and their clinical applications.

Zhao Q, Dai R, Li Y, et al.

European journal of pediatrics 2022; (181(2)):529-538 doi:10.1007/s00431-021-04223-8.

Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.

Blom M, Zetterström RH, Stray-Pedersen A, et al.

The Journal of allergy and clinical immunology 2022; (149(4)):1428-1436 doi:10.1016/j.jaci.2021.08.026.

Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S.

Mantravadi V, Bednarski JJ, Ritter MA, et al.

Frontiers in immunology 2021; (12()):734096 doi:10.3389/fimmu.2021.734096.

FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.

Rota IA, Handel AE, Maio S, et al.

Science advances 2021; (7(49)):eabj9247 doi:10.1126/sciadv.abj9247.

Spectrum of Genetic T-Cell Disorders from 22q11.2DS to CHARGE.

Urschel D, Hernandez-Trujillo VP

Clinical reviews in allergy & immunology 2022; (63(1)):99-105 doi:10.1007/s12016-022-08927-z.

In-utero exposure to immunosuppressive medications resulting in abnormal newborn screening for severe combined immunodeficiency: a case series on natural history and management.

Carol HA, Ochfeld EN, Ahmed A

Immunologic research 2022; (70(5)):561-565 doi:10.1007/s12026-022-09297-6.

Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.

Boyarchuk O, Yarema N, Kravets V, et al.

Frontiers in immunology 2022; (13()):999664 doi:10.3389/fimmu.2022.999664.

Diversity in Cortical Thymic Epithelial Cells Occurs through Loss of a Foxn1-Dependent Gene Signature Driven by Stage-Specific Thymocyte Cross-Talk.

White AJ, Parnell SM, Handel A, et al.

Journal of immunology (Baltimore, Md. : 1950) 2022; doi:10.4049/jimmunol.2200609.

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.

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.

FOXN1 Gene Considerations in Severe Combined Immunodeficiency Treatment in Children.

Torres S, Marzullo M

Cureus 2022; (14(11)):e32040 doi:10.7759/cureus.32040.

Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity.

Yanes T, Sullivan A, Barbaro P, et al.

European journal of human genetics : EJHG 2023; (31(10)):1125-1132 doi:10.1038/s41431-023-01321-z.

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.

Immune Reconstitution Inflammatory Syndrome After Hematopoietic Stem Cell Transplantation in a FOXN1 -deficient Patient.

Corbali O, Gemici Karaaslan HB, Aydemir S, et al.

Journal of pediatric hematology/oncology 2023; (45(5)):275-277 doi:10.1097/MPH.0000000000002677.

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.

Thakar MS, Logan BR, Puck JM, et al.

Lancet (London, England) 2023; (402(10396)):129-140 doi:10.1016/S0140-6736(23)00731-6.

Comprehensive phenotypic analysis of diverse FOXN1 variants.

Moses A, Bhalla P, Thompson A, et al.

The Journal of allergy and clinical immunology 2023; (152(5)):1273-1291.e15 doi:10.1016/j.jaci.2023.06.019.

Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.

Yakici N, Kreins AY, Catak MC, et al.

Clinical immunology (Orlando, Fla.) 2023; (255()):109757 doi:10.1016/j.clim.2023.109757.

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Pasternak Y, Vong L, Merico D, et al.

The journal of allergy and clinical immunology. Global 2024; (3(3)):100267 doi:10.1016/j.jacig.2024.100267.

Peripheral T Cell Development and Immunophenotyping of Twins with Heterozygous FOXN1 Mutations.

Voss K, Bartkowiak T, Sewell AE, et al.

ImmunoHorizons 2024; (8(7)):492-499 doi:10.4049/immunohorizons.2400006.

Health-related quality of life in patients with inborn errors of immunity: A systematic review and meta-analysis.

Xiao N, Huang X, Yang D, et al.

Preventive medicine 2024; (186()):108079 doi:10.1016/j.ypmed.2024.108079.

European Society for Immunodeficiencies guidelines for the management of patients with congenital athymia.

Kreins AY, Dhalla F, Flinn AM, et al.

The Journal of allergy and clinical immunology 2024; (154(6)):1391-1408 doi:10.1016/j.jaci.2024.07.031.

Systemic lupus erythematosus in a patient with 22q11.2 deletion syndrome: A case report and review of the literature.

Sun C, Han P, Yan J

Central-European journal of immunology 2024; (49(3)):315-319 doi:10.5114/ceji.2024.143229.

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.

Incidence and risk factors for CMV and EBV infection in infants with low T-cell receptor excision circles on newborn screen.

Day-Lewis ME, Berbert L, DeGrazia M, et al.

Clinical immunology (Orlando, Fla.) 2025; (277()):110510 doi:10.1016/j.clim.2025.110510.

The effects of postponing BCG vaccination on the risk of BCG-related complications among patients with severe combined immunodeficiency disease in Saudi Arabia.

Aldhaheri A, Alyabes O, Aljumaah S, et al.

Frontiers in immunology 2025; (16()):1596963 doi:10.3389/fimmu.2025.1596963.

Informed clinical decisions by outfoxing human FOXN1 variants.

Wysocki CA, van Oers NSC

The Journal of allergy and clinical immunology 2025; (156(4)):845-853 doi:10.1016/j.jaci.2025.05.025.

"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.

Broadening the Phenotypic Spectrum of Forkhead Box N1 Gene Mutations.

Brader J, O'Brien R, Rees C

Cureus 2025; (17(10)):e94410 doi:10.7759/cureus.94410.

Natural History of Swiss Infants with Non-SCID T-cell Lymphopenia Detected by Newborn Screening: A Cohort Study.

Soomann M, Prader S, Agyeman PKA, et al.

Journal of clinical immunology 2025; (45(1)):166.

Disseminated BCG infection and rotavirus enteritis in an infant with severe immunodeficiency: a causal association study.

Cai J, Li S, Xu J, et al.

Frontiers in public health 2025; (13()):1695162 doi:10.3389/fpubh.2025.1695162.

FOXN1 immunodeficiency detected by TREC-based newborn screening - A challenge of management?

Graafen L, Borkhardt A, Reiß J, et al.

Immunology letters 2026; (279()):107142 doi:10.1016/j.imlet.2026.107142.

Neutralizing autoantibodies against IFN-α2 and IFN-ω in a boy with a heterozygous variant in the FOXN1 gene.

Gutiérrez-Guerrero A, García-Vargas D, Cortés-Acevedo P, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2026; (37(3)):e70314 doi:10.1111/pai.70314.

Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review.

Sébert AL, Gargiulo M, De Lonlay P, et al.

Frontiers in psychology 2025; (16()):1564032 doi:10.3389/fpsyg.2025.1564032.

Cultured thymus tissue implantation for congenital athymia: Surgical site complications and dose-effect analysis.

De Bie FR, McCarthy EA, Venturi G, et al.

Journal of pediatric surgery 2026; 163341 doi:10.1016/j.jpedsurg.2026.163341.

Case report: Maternal engraftment of T-cells in a patient with Severe Combined Immunodeficiency due to DCLRE1C pathogenic variant - diagnostic and treatment challenges.

Peiseniece E, Rozevska M, Arnite V, et al.

Frontiers in immunology 2026; (17()):1892927 doi:10.3389/fimmu.2026.1892927.

Pitfalls and diagnostic challenges in TRECS-based newborn screening for Artemis, FOXN1 and Moesin deficiencies.

Ruigómez-Martín CC, Nieto-López C, Dueñas-Prieto L, et al.

Frontiers in immunology 2026; (17()):1947649 doi:10.3389/fimmu.2026.1947649.