Research & Literature

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Suter AA, Itin P, Heinimann K, et al.

Molecular genetics & genomic medicine 2016; (4(3)):359-66 doi:10.1002/mgg3.209.

[HOW TO APPROACH A PATIENT WITH SUSPECTED IMMUNODEFICIENCY].

Toker O, Aggmon-Levin N, Somech R

Harefuah 2016; (155(3)):170-6, 195.

When to initiate immunoglobulin replacement therapy (IGRT) in antibody deficiency: a practical approach.

Jolles S, Chapel H, Litzman J

Clinical and experimental immunology 2017; (188(3)):333-341 doi:10.1111/cei.12915.

Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.

Buchanan DD, Stewart JR, Clendenning M, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2018; (20(8)):890-895 doi:10.1038/gim.2017.185.

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.

Primary immunodeficiency diseases in lung disease: warning signs, diagnosis and management.

Soler-Palacín P, de Gracia J, González-Granado LI, et al.

Respiratory research 2018; (19(1)):219 doi:10.1186/s12931-018-0923-8.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Logan CV, Murray JE, Parry DA, et al.

American journal of human genetics 2018; (103(6)):1038-1044 doi:10.1016/j.ajhg.2018.10.024.

Towards a Rational and Efficient Diagnostic Approach in Children Referred for Growth Failure to the General Paediatrician.

Wit JM, Kamp GA, Oostdijk W,

Hormone research in paediatrics 2019; (91(4)):223-240 doi:10.1159/000499915.

Interpretation of somatic POLE mutations in endometrial carcinoma.

León-Castillo A, Britton H, McConechy MK, et al.

The Journal of pathology 2020; (250(3)):323-335 doi:10.1002/path.5372.

Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.

Hamzaoui N, Alarcon F, Leulliot N, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(9)):1533-1541 doi:10.1038/s41436-020-0828-z.

Filling in the gaps on FILS syndrome: A case report and literature review.

Eason C, Aleisa A, Jones JR, et al.

Pediatric dermatology 2020; (37(5)):915-917 doi:10.1111/pde.14274.

Treatment and management of primary antibody deficiency: German interdisciplinary evidence-based consensus guideline.

Hanitsch L, Baumann U, Boztug K, et al.

European journal of immunology 2020; (50(10)):1432-1446 doi:10.1002/eji.202048713.

Failure of immunological competence: when to suspect?

Pinto-Mariz F

Jornal de pediatria 2021; (97 Suppl 1()):S34-S38 doi:10.1016/j.jped.2020.10.007.

Inborn Errors of Immunity: how to diagnose them?

Grumach AS, Goudouris ES

Jornal de pediatria 2021; (97 Suppl 1()):S84-S90 doi:10.1016/j.jped.2020.11.007.

Vaccination for Patients with Inborn Errors of Immunity: a Nationwide Survey in Japan.

Hosaka S, Kido T, Imagawa K, et al.

Journal of clinical immunology 2022; (42(1)):183-194 doi:10.1007/s10875-021-01160-x.

Delphi consensus on the diagnosis and treatment of patients with short stature in Spain: GROW-SENS study.

Corripio-Collado R, Fernández-Ramos C, González-Casado I, et al.

Journal of endocrinological investigation 2022; (45(4)):887-897 doi:10.1007/s40618-021-01696-0.

Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus.

Nakano T, Sasahara Y, Kikuchi A, et al.

Journal of medical genetics 2022; doi:10.1136/jmedgenet-2021-108300.

Peripheral-blood cytopenia, an early indicator of inborn errors of immunity.

Cornelissen HM, Musekwa EM, Glashoff RH, et al.

British journal of haematology 2022; (198(5)):875-886 doi:10.1111/bjh.18337.

Phenotypic continuum between POLE-related recessive disorders: A case report and literature review.

Roberts ME, Nimrichter S, Marshall ML, et al.

American journal of medical genetics. Part A 2022; (188(10)):3121-3125 doi:10.1002/ajmg.a.62908.

How to: Diagnose inborn errors of intrinsic and innate immunity to viral, bacterial, mycobacterial, and fungal infections.

Moratti M, Conti F, Giannella M, et al.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases 2022; (28(11)):1441-1448 doi:10.1016/j.cmi.2022.07.021.

Case report: A Chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome.

Jiang L, Chen X, Zheng J, et al.

Frontiers in pediatrics 2022; (10()):933108 doi:10.3389/fped.2022.933108.

A Genetic Approach in the Evaluation of Short Stature.

Turkyilmaz A, Donmez AS, Cayir A

The Eurasian journal of medicine 2022; (54(Suppl1)):179-186 doi:10.5152/eurasianjmed.2022.22171.

Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions.

Akalın A, Şimşek-Kiper PÖ, Taşkıran E, et al.

Molecular syndromology 2023; (13(6)):537-542 doi:10.1159/000524703.

Immunoglobulin replacement therapies in inborn errors of immunity: a review.

Sil A, Basu S, Joshi V, et al.

Frontiers in pediatrics 2024; (12()):1368755 doi:10.3389/fped.2024.1368755.

Children With Idiopathic Short Stature: An Expanding Role for Genetic Investigation in Their Medical Evaluation.

Cohen LE, Rogol AD

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2024; (30(7)):679-686 doi:10.1016/j.eprac.2024.04.009.

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.

Infection prevention in patients with inborn errors of immunity: Insights from Japan's nationwide study.

Yao Z, Kido T, Hosaka S, et al.

Pediatrics international : official journal of the Japan Pediatric Society 2025; (67(1)):e70093 doi:10.1111/ped.70093.

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl.

Dalili S, Hoseini Nouri SA, Sharifi A, et al.

Molecular genetics & genomic medicine 2025; (13(11)):e70154 doi:10.1002/mgg3.70154.

Diagnosis of Paediatric Inborn Errors of Immunity in a MENA Cohort Referred for Recurrent Infections Using a Structured Clinical Algorithm: A Real-Life Cross-Sectional Study.

Kökcü Karadağ Şİ, Topçak AB, Ertürk B, et al.

Journal of paediatrics and child health 2026; (62(3)):398-405 doi:10.1111/jpc.70280.

How I Treat: Infections and inborn errors of immunity-Prevention, diagnosis, and treatment.

Freeman AF, Thielen BK, Pozos TC

Journal of human immunity 2026; (2(1)):e20250137 doi:10.70962/jhi.20250137.

Inborn errors of immunity with DNA repair disorders: at the interface of immune deficiency, immune dysregulation, and malignancy.

Szczawińska-Popłonyk A

Frontiers in immunology 2026; (17()):1815028 doi:10.3389/fimmu.2026.1815028.