Research & Literature

RAG1 deficiency may present clinically as selective IgA deficiency.

Kato T, Crestani E, Kamae C, et al.

Journal of clinical immunology 2015; (35(3)):280-8 doi:10.1007/s10875-015-0146-4.

Cutaneous granulomas in the setting of primary immunodeficiency: a report of four cases and review of the literature.

Harp J, Coggshall K, Ruben BS, et al.

International journal of dermatology 2015; (54(6)):617-25 doi:10.1111/ijd.12765.

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.

Felgentreff K, Lee YN, Frugoni F, et al.

The Journal of allergy and clinical immunology 2015; (136(1)):140-150.e7.

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.

Clinical Usefulness of PCR for Differential Diagnosis of Tuberculosis and Nontuberculous Mycobacterial Infection in Paraffin-Embedded Lung Tissues.

Kim YN, Kim KM, Choi HN, et al.

The Journal of molecular diagnostics : JMD 2015; (17(5)):597-604.

Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens.

Geier CB, Piller A, Linder A, et al.

PloS one 2015; (10(7)):e0133220 doi:10.1371/journal.pone.0133220.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Walter JE, Rosen LB, Csomos K, et al.

The Journal of clinical investigation 2015; (125(11)):4135-48.

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.

Volk T, Pannicke U, Reisli I, et al.

Human molecular genetics 2015; (24(25)):7361-72 doi:10.1093/hmg/ddv437.

Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection.

Dutmer CM, Asturias EJ, Smith C, et al.

Journal of clinical immunology 2015; (35(8)):754-60 doi:10.1007/s10875-015-0207-8.

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.

Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis.

Ulusoy E, Karaca NE, Azarsiz E, et al.

Journal of clinical medicine research 2016; (8(5)):379-84 doi:10.14740/jocmr2316w.

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

Yu H, Zhang VW, Stray-Pedersen A, et al.

The Journal of allergy and clinical immunology 2016; (138(4)):1142-1151.e2 doi:10.1016/j.jaci.2016.05.035.

Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency.

John T, Walter JE, Schuetz C, et al.

Journal of clinical immunology 2016; (36(7)):725-32 doi:10.1007/s10875-016-0326-x.

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.

Coulter TI, Chandra A, Bacon CM, et al.

The Journal of allergy and clinical immunology 2017; (139(2)):597-606.e4 doi:10.1016/j.jaci.2016.06.021.

Lentivirus Mediated Correction of Artemis-Deficient Severe Combined Immunodeficiency.

Punwani D, Kawahara M, Yu J, et al.

Human gene therapy 2017; (28(1)):112-124 doi:10.1089/hum.2016.064.

Phellinus species: An emerging cause of refractory fungal infections in patients with X-linked chronic granulomatous disease.

Haidar G, Zerbe CS, Cheng M, et al.

Mycoses 2017; (60(3)):155-160 doi:10.1111/myc.12573.

Autoinhibition of the Nuclease ARTEMIS Is Mediated by a Physical Interaction between Its Catalytic and C-terminal Domains.

Niewolik D, Peter I, Butscher C, Schwarz K

The Journal of biological chemistry 2017; (292(8)):3351-3365 doi:10.1074/jbc.M116.770461.

Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections.

Wentink M, Dalm V, Lankester AC, et al.

Clinical immunology (Orlando, Fla.) 2017; (176()):77-86 doi:10.1016/j.clim.2017.01.004.

Recent advances in the study of immunodeficiency and DNA damage response.

Morio T

International journal of hematology 2017; (106(3)):357-365 doi:10.1007/s12185-017-2263-8.

Omenn Syndrome and DNA recombination defects.

Yachie A

Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology 2017; (40(3)):179-189 doi:10.2177/jsci.40.179.

Characterization of T and B cell repertoire diversity in patients with RAG deficiency.

Lee YN, Frugoni F, Dobbs K, et al.

Science immunology 2016; (1(6)) doi:10.1126/sciimmunol.aah6109.

[Clinical characteristics of human recombination activating gene 1 mutations in 8 immunodeficiency patients with diverse phenotypes].

Yu G, Wang WJ, Liu DR, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2018; (56(3)):186-191 doi:10.3760/cma.j.issn.0578-1310.2018.03.007.

Hypomorphic Rag1 mutations alter the preimmune repertoire at early stages of lymphoid development.

Ott de Bruin LM, Bosticardo M, Barbieri A, et al.

Blood 2018; (132(3)):281-292 doi:10.1182/blood-2017-12-820985.

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

Tirosh I, Yamazaki Y, Frugoni F, et al.

The Journal of allergy and clinical immunology 2019; (143(2)):726-735 doi:10.1016/j.jaci.2018.04.027.

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.

TDP1 suppresses mis-joining of radiomimetic DNA double-strand breaks and cooperates with Artemis to promote optimal nonhomologous end joining.

Kawale AS, Akopiants K, Valerie K, et al.

Nucleic acids research 2018; (46(17)):8926-8939 doi:10.1093/nar/gky694.

An Infant with Respiratory Distress and Loose Stools.

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

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

Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.

Meshaal SS, El Hawary RE, Abd Elaziz DS, et al.

Clinical and experimental immunology 2019; (195(2)):202-212 doi:10.1111/cei.13222.

Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages.

Kutukculer N, Aykut A, Karaca NE, et al.

Scandinavian journal of immunology 2019; (89(2)):e12737 doi:10.1111/sji.12737.

Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.

Buchbinder D, Hauck F, Albert MH, et al.

Journal of clinical immunology 2019; (39(1)):81-89 doi:10.1007/s10875-018-0581-0.

Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature.

Leclerc-Mercier S, Moshous D, Neven B, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2019; (33(7)):1412-1420 doi:10.1111/jdv.15568.

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

Farmer JR, Foldvari Z, Ujhazi B, et al.

The journal of allergy and clinical immunology. In practice 2019; (7(6)):1970-1985.e4 doi:10.1016/j.jaip.2019.02.038.

Latin American consensus on the supportive management of patients with severe combined immunodeficiency.

Bustamante Ogando JC, Partida Gaytán A, Aldave Becerra JC, et al.

The Journal of allergy and clinical immunology 2019; (144(4)):897-905 doi:10.1016/j.jaci.2019.08.002.

Approaches to patients with variants in RAG genes: from diagnosis to timely treatment.

Bulkhi AA, Dasso JF, Schuetz C, Walter JE

Expert review of clinical immunology 2019; (15(10)):1033-1046 doi:10.1080/1744666X.2020.1670060.

Infectious vaccine-derived rubella viruses emerge, persist, and evolve in cutaneous granulomas of children with primary immunodeficiencies.

Perelygina L, Chen MH, Suppiah S, et al.

PLoS pathogens 2019; (15(10)):e1008080 doi:10.1371/journal.ppat.1008080.

NAPDH Oxidase-Specific Flow Cytometry Allows for Rapid Genetic Triage and Classification of Novel Variants in Chronic Granulomatous Disease.

Sacco KA, Smith MJ, Bahna SL, et al.

Journal of clinical immunology 2020; (40(1)):191-202 doi:10.1007/s10875-019-00712-6.

A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis.

Greenberg-Kushnir N, Lee YN, Simon AJ, et al.

Journal of clinical immunology 2020; (40(1)):211-222 doi:10.1007/s10875-019-00717-1.

Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency.

Delmonte OM, Villa A, Notarangelo LD

Blood 2020; (135(9)):610-619 doi:10.1182/blood.2019000923.

EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children.

Kalina T, Bakardjieva M, Blom M, et al.

Frontiers in immunology 2020; (11()):371 doi:10.3389/fimmu.2020.00371.

Interstitial pneumonia as the initial presentation in an infant with a novel mutation of CD40 ligand-associated X-linked hyper-IgM syndrome: A case report.

Li J, Miao H, Wu L, Fang Y

Medicine 2020; (99(24)):e20505 doi:10.1097/MD.0000000000020505.

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.

Sharapova SO, Skomska-Pawliszak M, Rodina YA, et al.

Frontiers in immunology 2020; (11()):900 doi:10.3389/fimmu.2020.00900.

TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.

Dasouki M, Jabr A, AlDakheel G, et al.

Clinical and experimental immunology 2020; (202(1)):60-71 doi:10.1111/cei.13484.

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.

Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma.

Chitty-Lopez M, Westermann-Clark E, Dawson I, et al.

Frontiers in immunology 2020; (11()):1954 doi:10.3389/fimmu.2020.01954.

Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency.

Geier CB, Farmer JR, Foldvari Z, et al.

Frontiers in immunology 2020; (11()):574738 doi:10.3389/fimmu.2020.574738.

Cutaneous and systemic granulomatosis in ataxia-telangiectasia: a clinico-pathological study.

Szczawińska-Popłonyk A, Olejniczak K, Tąpolska-Jóźwiak K, et al.

Postepy dermatologii i alergologii 2020; (37(5)):760-765 doi:10.5114/ada.2020.100485.

Persistent infection with a rotavirus vaccine strain in a child suffering from Severe Combined Immunodeficiency in Argentina.

Palau MJ, Vescina CM, Regairaz L, et al.

Revista Argentina de microbiologia 2021; (53(3)):216-219 doi:10.1016/j.ram.2020.10.002.

Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.

Lugo-Reyes SO, Pastor N, González-Serrano E, et al.

Journal of clinical immunology 2021; (41(6)):1291-1302 doi:10.1007/s10875-021-01052-0.

Rubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity.

Groß M, Speckmann C, May A, et al.

The Journal of allergy and clinical immunology 2022; (149(1)):388-399.e4 doi:10.1016/j.jaci.2021.05.007.

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.

Challenging Mimickers in the Diagnosis of Sarcoidosis: A Case Study.

El Jammal T, Jamilloux Y, Gerfaud-Valentin M, et al.

Diagnostics (Basel, Switzerland) 2021; (11(7)) doi:10.3390/diagnostics11071240.

Disorders Related to PI3Kδ Hyperactivation: Characterizing the Clinical and Immunological Features of Activated PI3-Kinase Delta Syndromes.

Redenbaugh V, Coulter T

Frontiers in pediatrics 2021; (9()):702872 doi:10.3389/fped.2021.702872.

Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).

Roos D, van Leeuwen K, Hsu AP, et al.

Blood cells, molecules & diseases 2021; (92()):102596 doi:10.1016/j.bcmd.2021.102596.

Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity.

Perelygina L, Faisthalab R, Abernathy E, et al.

Frontiers in immunology 2021; (12()):796065 doi:10.3389/fimmu.2021.796065.

Case Report: Cytomegalovirus Disease Is an Under-Recognized Contributor to Morbidity and Mortality in Common Variable Immunodeficiency.

Chan S, Godsell J, Horton M, et al.

Frontiers in immunology 2022; (13()):815193 doi:10.3389/fimmu.2022.815193.

Early Identification of Fungal and Mycobacterium Infections in Pulmonary Granulomas Using Metagenomic Next-Generation Sequencing on Formalin fixation and paraffin embedding tissue.

Sun W, Dong Z, Zhou Y, et al.

Expert review of molecular diagnostics 2022; (22(4)):461-468 doi:10.1080/14737159.2022.2052046.

Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study.

Albert MH, Sirait T, Eikema DJ, et al.

Blood 2022; (140(14)):1635-1649 doi:10.1182/blood.2022015506.

Case Report: Rubella Virus-Induced Cutaneous Granulomas in Two Pediatric Patients With DNA Double Strand Breakage Repair Disorders - Outcome After Hematopoietic Stem Cell Transplantation.

Baumann U, Schulte JH, Groß JP, et al.

Frontiers in immunology 2022; (13()):886540 doi:10.3389/fimmu.2022.886540.

High Inborn Errors of Immunity Risk in Patients with Granuloma.

Süleyman M, Serin O, Koçali B, et al.

Journal of clinical immunology 2022; (42(8)):1795-1809 doi:10.1007/s10875-022-01342-1.

Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.

Schuetz C, Gerke J, Ege M, et al.

Blood 2023; (141(7)):713-724 doi:10.1182/blood.2022017667.

Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan.

Inoue K, Miyamoto S, Tomomasa D, et al.

Journal of clinical immunology 2023; (43(3)):585-594 doi:10.1007/s10875-022-01405-3.

Lentiviral Gene Therapy for Artemis-Deficient SCID.

Cowan MJ, Yu J, Facchino J, et al.

The New England journal of medicine 2022; (387(25)):2344-2355 doi:10.1056/NEJMoa2206575.

Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene.

Ghadimi S, Jamee M, Abolhassani H, et al.

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2023; (19(1)):13 doi:10.1186/s13223-023-00768-5.

Case report: Rubella virus-induced cutaneous granulomas in a girl with atypical SCID caused by DCLRE1C gene mutations.

Deng S, Rao S, Wang AR, Shi W

Frontiers in genetics 2023; (14()):1115027 doi:10.3389/fgene.2023.1115027.

Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.

Karaatmaca B, Cagdas D, Esenboga S, et al.

Clinical and experimental immunology 2024; (215(2)):160-176 doi:10.1093/cei/uxad110.

From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature.

Taghizadeh Mortezaei N, Mohammadi S, Abolhassani H, et al.

BMC pediatrics 2024; (24(1)):116 doi:10.1186/s12887-024-04597-2.

Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity.

Meric Z, Gemici Karaaslan B, Yalcin Gungoren E, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2024; (35(6)):e14171 doi:10.1111/pai.14171.

Clinical presentation, diagnosis, and treatment of chronic granulomatous disease.

Staudacher O, von Bernuth H

Frontiers in pediatrics 2024; (12()):1384550 doi:10.3389/fped.2024.1384550.

Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood.

Hazar E, Karaselek MA, Kapakli H, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2024; (35(10)):e14260 doi:10.1111/pai.14260.

Factors associated with and kinetics of anti-IFN-α autoantibodies in RAG1/2 deficiency.

Wang C, Potts DE, Sun B, et al.

The journal of allergy and clinical immunology. Global 2025; (4(3)):100521 doi:10.1016/j.jacig.2025.100521.

Targeted Next-Generation Sequencing in the Molecular Diagnosis of Severe Combined Immunodeficiency.

Bakaros E, Sarrou S, Gkantaras A, et al.

Medicina (Kaunas, Lithuania) 2025; (61(9)) doi:10.3390/medicina61091644.

Two cases of combined immunodeficiency with ITPR3 mutations presenting with life-threatening severe EBV-associated hemophagocytic lymphohistiocytosis.

Yu L, Li Y, Zhang L, et al.

Frontiers in immunology 2025; (16()):1653662 doi:10.3389/fimmu.2025.1653662.

Severe combined immunodeficiency with BCG-osis by salvage therapy with allogeneic hematopoietic stem cell transplantation: cases report and literature review.

Jiao Y, Li Q, Chen Z, et al.

BMC pediatrics 2025; (25(1)):768 doi:10.1186/s12887-025-06127-0.

A High-Throughput Sequencing Strategy for Clinical Repertoire Profiling of T Cell Receptor Beta Chain: Development and Reference Values Across Healthy Adults, Paediatrics, and Cord Blood Units.

Enrich E, Antón-Iborra M, Hobeich C, et al.

International journal of molecular sciences 2025; (26(19)) doi:10.3390/ijms26199590.

Rubella-associated granuloma in a patient with a compound heterozygous RAG1 defect and review of the literature.

Akarsu A, Sonmez G, Schiefer AI, et al.

Immunologic research 2025; (73(1)):150 doi:10.1007/s12026-025-09711-9.

Spontaneous Cranial Epidural Inflammatory Granuloma Mimicking Brain Tumor: A Case Report.

Gwak HS, Chun JY, Han NY, et al.

Brain tumor research and treatment 2025; (13(4)):158-163 doi:10.14791/btrt.2025.0027.

Optimizing the diagnosis of chronic granulomatous disease using dihydrorhodamine-123 assay: Lessons from a large monocentric cohort.

Oiuna L, Tatiana V, Daria Y, et al.

Cytometry. Part B, Clinical cytometry 2026; (110(3)):201-220 doi:10.1002/cytob.70014.

Case Report: Infant with vaccine-associated paralytic poliomyelitis unveils global disparities in care for inborn errors of immunity.

Chan CM, Fong ESS, Yeo DYC, et al.

Frontiers in immunology 2026; (17()):1751423 doi:10.3389/fimmu.2026.1751423.

An Update on Inborn Errors of V(D)J Recombination.

Schim van der Loeff I, Ahuja M, Chen R, et al.

Physiology (Bethesda, Md.) 2026; (41(6)):0 doi:10.1152/physiol.00004.2026.

From hidden immunodeficiency to hyperinflammatory crisis: Cryptococcosis-induced HLH in adult-onset severe combined immunodeficiency.

Yaseen OPM, Singh S, Rana K, et al.

Indian journal of pathology & microbiology 2026; (69(2)):302-305 doi:10.4103/ijpm.ijpm_1248_25.

Diagnosis of granulomatous inflammation in thoracic small biopsies and fine needle aspiration specimens: a multi-institutional study.

Archila LR, Abraham AE, Adeniran AJ, et al.

Journal of the American Society of Cytopathology 2026; doi:10.1016/j.jasc.2026.06.003.

Mycobacterium marinum Infection: A Clinical Case Report and 5-Year Systematic Literature Review (2021-2025).

Yang X, Chai S, Han Y, Wei A

Clinical, cosmetic and investigational dermatology 2026; (19()):610975 doi:10.2147/CCID.S610975.

Expanding the clinical spectrum of CD3γ deficiency: comprehensive characterization of adult-onset disease and integrated reevaluation of all reported patients.

Obeng R, Elsayed A, Takyi A, et al.

Frontiers in immunology 2026; (17()):1889169 doi:10.3389/fimmu.2026.1889169.

Invasive pulmonary aspergillosis as a sentinel manifestation of good syndrome in a patient with thymoma.

Movahedi M, Arabi Z, Farzadmanesh S

IDCases 2026; (45()):e02727 doi:10.1016/j.idcr.2026.e02727.

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.