Research & Literature

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies.

Bousfiha A, Jeddane L, Al-Herz W, et al.

Journal of clinical immunology 2015; (35(8)):727-38 doi:10.1007/s10875-015-0198-5.

Exome and genome sequencing for inborn errors of immunity.

Meyts I, Bosch B, Bolze A, et al.

The Journal of allergy and clinical immunology 2016; (138(4)):957-969 doi:10.1016/j.jaci.2016.08.003.

British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders.

Hurst JR, Verma N, Lowe D, et al.

The journal of allergy and clinical immunology. In practice 2017; (5(4)):938-945 doi:10.1016/j.jaip.2017.01.021.

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.

Flow Cytometric Evaluation of Primary Immunodeficiencies.

Boldt A, Bitar M, Sack U

Clinics in laboratory medicine 2017; (37(4)):895-913 doi:10.1016/j.cll.2017.07.013.

Subcutaneous Immunoglobulins are a Valuable Treatment Option in Myasthenia Gravis.

Garnero M, Fabbri S, Gemelli C, et al.

Journal of clinical neurology (Seoul, Korea) 2018; (14(1)):98-99 doi:10.3988/jcn.2018.14.1.98.

Targeted next-generation sequencing for genetic diagnosis of 160 patients with primary immunodeficiency in south China.

Xia Y, He T, Luo Y, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2018; (29(8)):863-872 doi:10.1111/pai.12976.

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.

High-resolution computed tomography findings in humoral primary immunodeficiencies and correlation with pulmonary function tests.

Cereser L, De Carli M, d'Angelo P, et al.

World journal of radiology 2018; (10(11)):172-183 doi:10.4329/wjr.v10.i11.172.

[Exome diagnostics in neurology].

Zech M, Wagner M, Schormair B, et al.

Der Nervenarzt 2019; (90(2)):131-137 doi:10.1007/s00115-018-0667-1.

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.

Monogenic lupus: Dissecting heterogeneity.

Omarjee O, Picard C, Frachette C, et al.

Autoimmunity reviews 2019; (18(10)):102361 doi:10.1016/j.autrev.2019.102361.

Inborn Errors of Immunity With Immune Dysregulation: From Bench to Bedside.

Delmonte OM, Castagnoli R, Calzoni E, Notarangelo LD

Frontiers in pediatrics 2019; (7()):353 doi:10.3389/fped.2019.00353.

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.

Recent advances in primary immunodeficiency: from molecular diagnosis to treatment.

Bucciol G, Meyts I

F1000Research 2020; (9()) doi:10.12688/f1000research.21553.1.

Lung disease in patients with common variable immunodeficiency.

López AL, Paolini MV, Fernández Romero DS

Allergologia et immunopathologia 2020; (48(6)):720-728 doi:10.1016/j.aller.2020.04.001.

[Common variable immunodeficiency disorders: Part 2. Updated clinical manifestations and therapeutic management].

Viallard JF, Lebail B, Begueret H, Fieschi C

La Revue de medecine interne 2021; (42(7)):473-481 doi:10.1016/j.revmed.2020.12.015.

Thymic origins of autoimmunity-lessons from inborn errors of immunity.

Bacchetta R, Weinberg K

Seminars in immunopathology 2021; (43(1)):65-83 doi:10.1007/s00281-020-00835-8.

Inborn errors of immunity-recent advances in research on the pathogenesis.

Yamashita M, Inoue K, Okano T, Morio T

Inflammation and regeneration 2021; (41(1)):9 doi:10.1186/s41232-021-00159-6.

Inborn errors of STAT1 immunity.

Mizoguchi Y, Okada S

Current opinion in immunology 2021; (72()):59-64 doi:10.1016/j.coi.2021.02.009.

Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing.

Karimi E, Mahmoudian F, Reyes SOL, et al.

Molecular immunology 2021; (137()):57-66 doi:10.1016/j.molimm.2021.06.018.

TREC/KREC levels in children with ataxia-telangiectasia.

Boyarchuk O, Makukh H, Kostyuchenko L, et al.

Immunologic research 2021; (69(5)):436-444 doi:10.1007/s12026-021-09216-1.

Awareness of primary immunodeficiency diseases at a national pediatric reference center in Peru.

Veramendi-Espinoza LE, Zafra-Tanaka JH, Toribio-Dionicio C, et al.

Einstein (Sao Paulo, Brazil) 2021; (19()):eAO6289 doi:10.31744/einstein_journal/2021AO6289.

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X, Maglione PJ, Wehr C, et al.

Blood advances 2022; (6(18)):5403-5414 doi:10.1182/bloodadvances.2021006654.

Inborn errors of immunity associated with elevated immunoglobulin E.

Khan YW, Williams KW

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2022; (129(5)):552-561 doi:10.1016/j.anai.2022.07.013.

Physician awareness and understanding of primary immunodeficiency disorders: a web-based study in Japan.

Imai K, Oh A, Morishita A, Inoue Y

Immunological medicine 2023; (46(1)):45-57 doi:10.1080/25785826.2022.2137966.

Activating de novo monoallelic variants causing inborn errors of immunity in two unrelated children born of HIV-seroconcordant couples.

Lugo Reyes SO, Solórzano Suárez A, Scheffler Mendoza SC, et al.

AIDS (London, England) 2022; (36(15)):2121-2128 doi:10.1097/QAD.0000000000003367.

Cutaneous cryptococcal infection: Initial manifestation of acquired T-cell immunodeficiency due to malignant thymoma.

McCann T, S Patel A, Patel D N, et al.

Current medical mycology 2022; (8(2)):55-58 doi:10.18502/CMM.8.2.10334.

A Retrospective Study on the Efficacy of Subcutaneous Immunoglobulin as Compared to Intravenous Formulation in Patients with Chronic Lymphocytic Leukemia and Secondary Antibody Deficiency.

Visentin A, Molinari MC, Pravato S, et al.

Current oncology (Toronto, Ont.) 2022; (30(1)):274-283 doi:10.3390/curroncol30010022.

Cytokine-mediated STAT-dependent pathways underpinning human B-cell differentiation and function.

Tangye SG, Pathmanandavel K, Ma CS

Current opinion in immunology 2023; (81()):102286 doi:10.1016/j.coi.2023.102286.

Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review.

George K, Govindaraj G

Pathogens (Basel, Switzerland) 2023; (12(2)) doi:10.3390/pathogens12020272.

Perceived Sleep Quality in Individuals with Inborn Errors of Immunity.

Sowers KL, Sawaged A, Bowen B

Journal of clinical immunology 2023; (43(6)):1221-1228 doi:10.1007/s10875-023-01474-y.

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.

Inborn Errors of Immunity.

Baloh CH, Chong H

Primary care 2023; (50(2)):253-268 doi:10.1016/j.pop.2022.12.001.

Autoimmune versus Non-autoimmune Cutaneous Features in Monogenic Patients with Inborn Errors of Immunity.

Sharifinejad N, Azizi G, Rasouli SE, et al.

Biology 2023; (12(5)) doi:10.3390/biology12050644.

Immunological Evaluation of Pediatric Patients with Polyautoimmunity.

Mahdavi FS, Tavakol M, Aghamahdi F, et al.

Endocrine, metabolic & immune disorders drug targets 2024; (24(7)):798-807 doi:10.2174/1871530323666230912124951.

Inborn errors of immunity: an expanding universe of disease and genetic architecture.

Akalu YT, Bogunovic D

Nature reviews. Genetics 2024; (25(3)):184-195 doi:10.1038/s41576-023-00656-z.

Elevated IgE Levels-An Allergy or an Underlying Inborn Error of Immunity in Children with Recurrent Infections?

Kostova P, Papochieva V, Miteva D, et al.

Antibodies (Basel, Switzerland) 2023; (12(4)) doi:10.3390/antib12040070.

In-depth blood immune profiling of Good syndrome patients.

Torres-Valle A, Aragon L, Silva SL, et al.

Frontiers in immunology 2023; (14()):1285088 doi:10.3389/fimmu.2023.1285088.

Inborn errors of immunity: A field without frontiers.

Bucciol G, Delafontaine S, Meyts I, Poli C

Immunological reviews 2024; (322(1)):15-27 doi:10.1111/imr.13297.

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.

Anxiety in Polish adult patients with inborn errors of immunity: a cross-sectional study.

Grochowalska K, Ziętkiewicz M, Nowicka-Sauer K, et al.

Frontiers in psychiatry 2024; (15()):1293935 doi:10.3389/fpsyt.2024.1293935.

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.

The Etiologic Landscape of Lymphoproliferation in Childhood: Proposal for a Diagnostic Approach Exploring from Infections to Inborn Errors of Immunity and Metabolic Diseases.

Costagliola G, De Marco E, Massei F, et al.

Therapeutics and clinical risk management 2024; (20()):261-274 doi:10.2147/TCRM.S462996.

Altered Genome-Wide DNA Methylation in the Duodenum of Common Variable Immunodeficiency Patients.

Yang M, Kaarbø M, Myhre V, et al.

Journal of clinical immunology 2024; (44(6)):133 doi:10.1007/s10875-024-01726-5.

Inborn Errors of Immunity.

Baloh CH, Chong H

The Medical clinics of North America 2024; (108(4)):703-718 doi:10.1016/j.mcna.2023.08.006.

Fatal viscerotropic and neurotropic disease after yellow fever vaccine: a rare manifestation leading to diagnosis of severe combined immunodeficiency in an infant.

Vieira LJT, Goebel GA, Barcelos Y, et al.

Revista do Instituto de Medicina Tropical de Sao Paulo 2024; (66()):e50 doi:10.1590/S1678-9946202466050.

Inborn errors of immunity and invasive fungal infections: presentation and management.

Paccoud O, Warris A, Puel A, Lanternier F

Current opinion in infectious diseases 2024; (37(6)):464-473 doi:10.1097/QCO.0000000000001062.

Sequence variants underlying severe combined immunodeficiency and leukocyte adhesion deficiency type 1 in six consanguineous families.

Fayyaz H, Zaman A, Haider N, et al.

Immunogenetics 2024; (76(5-6)):351-360 doi:10.1007/s00251-024-01353-9.

Immunodeficiency: Gene therapy for primary immune deficiency.

Afzal SY, MacDougall MS, McGhee SA

Allergy and asthma proceedings 2024; (45(5)):384-388 doi:10.2500/aap.2024.45.240054.

Genetically-determined defects of T cell development.

Notarangelo LD

Allergy and asthma proceedings 2024; (45(5)):326-331 doi:10.2500/aap.2024.45.240028.

Overview of secondary immunodeficiency.

Herman KE, Tuttle KL

Allergy and asthma proceedings 2024; (45(5)):347-354 doi:10.2500/aap.2024.45.240063.

Pathophysiology of Congenital High Production of IgE and Its Consequences: A Narrative Review Uncovering a Neglected Setting of Disorders.

Galletta F, Gambadauro A, Foti Randazzese S, et al.

Life (Basel, Switzerland) 2024; (14(10)) doi:10.3390/life14101329.

NGS data analysis for molecular diagnosis of Inborn Errors of Immunity.

Yang XT, Yang WL, Lau YL

Seminars in immunology 2024; (74-75()):101901 doi:10.1016/j.smim.2024.101901.

[Association between alterations in the expanded lymphoid profileby flow cytometry and inborn errors of immunity].

Martín ML, Frías ME, Del Pino L, et al.

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) 2024; (71(3)):155-168 doi:10.29262/ram.v71i3.1381.

Perspectives in newborn screening for SCID in Japan. Case report: newborn screening identified X-linked severe combined immunodeficiency with a novel IL2RG variant.

Beppu S, Nishikawa T, Tomomasa D, et al.

Frontiers in immunology 2024; (15()):1478411 doi:10.3389/fimmu.2024.1478411.

Keeping up with recent developments in immunodeficiency.

Tsoulis MW, Williams KW

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2025; (134(3)):259-268 doi:10.1016/j.anai.2024.12.016.

Immunoglobulin replacement therapy in patients with primary and secondary immunodeficiencies: impact of infusion method on immunoglobulin-specific perceptions of quality of life and treatment satisfaction.

Mallick R, Hahn N, Scalchunes C

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2025; (21(1)):2 doi:10.1186/s13223-024-00939-y.

Inborn errors of immunity (primary immunodeficiencies).

Kim VHD, Upton JEM, Derfalvi B, et al.

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2025; (20(Suppl 3)):76 doi:10.1186/s13223-024-00938-z.

Haematopoietic stem cell transplantation in children with inborn errors of immunity: A single centre experience.

Arman Bilir Ö, Karaatmaca B, Ok Bozkaya İ, et al.

Scandinavian journal of immunology 2025; (101(1)):e13431 doi:10.1111/sji.13431.

Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing.

Merico D, Sharfe N, Dadi H, et al.

NPJ genomic medicine 2025; (10(1)):2 doi:10.1038/s41525-024-00453-5.

Red flags to suspect inborn errors of immunity in patients with autoimmune diseases

Vélez N, De Ávila J, Cortés J, et al.

Biomedica : revista del Instituto Nacional de Salud 2024; (44(Sp. 2)):236-262 doi:10.7705/biomedica.7561.

Haploidentical hematopoietic stem cell transplantation using post-transplant cyclophosphamide in patients with inborn errors of immunity: Experience in a reference center in Colombia

Medina D, Castro JO, Castro DE, et al.

Biomedica : revista del Instituto Nacional de Salud 2024; (44(Sp. 2)):118-130 doi:10.7705/biomedica.7560.

Non-cystic fibrosis bronchiectasis in pediatrics: A cohort profile of patients with inborn errors of immunity at a referral center in Cali, Colombia

Murillo A, Marín D, Triviño J, et al.

Biomedica : revista del Instituto Nacional de Salud 2024; (44(Sp. 2)):131-139 doi:10.7705/biomedica.7558.

Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices.

Huang Y, Deng W, Huang H, et al.

Frontiers in genetics 2024; (15()):1452498 doi:10.3389/fgene.2024.1452498.

Decoding Immunobiology Through Genetic Errors of Immunity.

Bender MJ, Lucas CL

Annual review of immunology 2025; (43(1)):285-311 doi:10.1146/annurev-immunol-082323-124920.

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.

Patient-reported outcomes with subcutaneous immunoglobulin in secondary immunodeficiency.

Cowan J, Na IK, Gladiator A, et al.

Frontiers in immunology 2025; (16()):1528414 doi:10.3389/fimmu.2025.1528414.

Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme.

Bloomfield M, Hlaváčková E, Schneiderová H, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2025; (36(5)):e70100 doi:10.1111/pai.70100.

Facilitated Subcutaneous Immunoglobulin 10% Safety Among Pediatric Patients With Primary Immunodeficiency Diseases.

Patel NC, Walter JE

The journal of allergy and clinical immunology. In practice 2025; (13(10)):2590-2599 doi:10.1016/j.jaip.2025.05.059.

Hemizygous IL2RG Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency.

Zhang N, Sang YL, Zhu W, et al.

The application of clinical genetics 2025; (18()):175-187 doi:10.2147/TACG.S525027.

Non-infectious pulmonary and gastrointestinal manifestations in primary antibody deficiencies: lessons for the clinic.

Franco M, Buso H, Carfora F, et al.

Expert review of clinical immunology 2025; (21(9)):1229-1249 doi:10.1080/1744666X.2025.2556435.

[Respiratory manifestations associated with cyclic neutropenia and innate immune deficiency (IgG3 deficiency): a case report].

Rodríguez-Flores DA, Ortiz-Jiménez MDP

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) 2025; (72(3)):61-63 doi:10.29262/ram.v72i3.1503.

Management of the child with primary immunodeficiency.

Lehman HK, Khaira A, Kaur S

Current opinion in pediatrics 2025; (37(6)):606-612 doi:10.1097/MOP.0000000000001513.

Severe Bleeding From Portal Hypertension in a Young Patient With Common Variable Immunodeficiency-Associated Nodular Regenerative Hyperplasia.

Kamalumpundi V, Daher D, Chen ZE, et al.

ACG case reports journal 2025; (12(11)):e01891 doi:10.14309/crj.0000000000001891.

Bridging the Gap in Secondary Antibody Deficiencies: Current Evidence and Unmet Needs in Diagnosis and Management with Immunoglobulin Replacement.

Kan AKC, Chan BCY, Lau CS, Li PH

Clinical reviews in allergy & immunology 2025; (68(1)):106 doi:10.1007/s12016-025-09116-4.

Toward Universal Protection: A Comprehensive Review of Pneumococcal Disease, Emerging Vaccination Challenges and Future Perspectives.

Sgrulletti M, Mastrototaro MF, Beni A, et al.

Vaccines 2025; (13(12)) doi:10.3390/vaccines13121237.

Pulmonary Manifestations of Inborn Errors of Immunity: Diagnostic and Therapeutic Insights.

Napiorkowska-Baran K, Cofta S, Treichel P, et al.

Life (Basel, Switzerland) 2025; (15(12)) doi:10.3390/life15121838.

The 2024 update of IUIS phenotypic classification of human inborn errors of immunity.

Bousfiha AA, Jeddane L, Moundir A, et al.

Journal of human immunity 2025; (1(1)):e20250002 doi:10.70962/jhi.20250002.

Genetic analysis of children with suspected immunodeficiency: mimickers of inborn errors of immunity.

Yılmaz SY, Külhaş Çelik İ, Marzioğlu Özdemir E, Artaç H

European journal of pediatrics 2026; (185(3)).

Enhanced clinical decision-making to optimize targeted gene panel testing for inborn errors of immunity.

Udomkittivorakul N, Zhang J, Arora J, et al.

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2026; doi:10.1016/j.anai.2026.04.010.

When to consider an inborn error of immunity: clues for physicians.

Thangarajah M, Berglund LJ

Internal medicine journal 2026; doi:10.1111/imj.70505.