Research & Literature

Adenovirus infection and disease in paediatric haematopoietic stem cell transplant patients: clues for antiviral pre-emptive treatment.

Feghoul L, Chevret S, Cuinet A, et al.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases 2015; (21(7)):701-9.

Single-Center Experience of Unrelated and Haploidentical Stem Cell Transplantation with TCRαβ and CD19 Depletion in Children with Primary Immunodeficiency Syndromes.

Balashov D, Shcherbina A, Maschan M, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2015; (21(11)):1955-62.

Optical Tools To Study the Isoform-Specific Roles of Small GTPases in Immune Cells.

Miskolci V, Wu B, Moshfegh Y, et al.

Journal of immunology (Baltimore, Md. : 1950) 2016; (196(8)):3479-93 doi:10.4049/jimmunol.1501655.

Pulmonary exacerbation in adults with bronchiectasis: a consensus definition for clinical research.

Hill AT, Haworth CS, Aliberti S, et al.

The European respiratory journal 2017; (49(6)) doi:10.1183/13993003.00051-2017.

Effect of reduced-intensity conditioning and the risk of late-onset non-infectious pulmonary complications in pediatric patients.

Nagasawa M, Mitsuiki N, Aoki Y, et al.

European journal of haematology 2017; (99(6)):525-531 doi:10.1111/ejh.12967.

Treosulfan and Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Children with Primary Immunodeficiency: UK Experience.

Slatter MA, Rao K, Abd Hamid IJ, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2018; (24(3)):529-536 doi:10.1016/j.bbmt.2017.11.009.

Prescribing Immunoglobulin Replacement Therapy for Patients with Non-classical and Secondary Antibody Deficiency: an Analysis of the Practice of Clinical Immunologists in the UK and Republic of Ireland.

Edgar JDM, Richter AG, Huissoon AP, et al.

Journal of clinical immunology 2018; (38(2)):204-213 doi:10.1007/s10875-017-0469-4.

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.

Maccari ME, Abolhassani H, Aghamohammadi A, et al.

Frontiers in immunology 2018; (9()):543 doi:10.3389/fimmu.2018.00543.

Macrophage Rac2 Is Required to Reduce the Severity of Cigarette Smoke-induced Pneumonia.

Larson-Casey JL, Gu L, Jackson PL, et al.

American journal of respiratory and critical care medicine 2018; (198(10)):1288-1301 doi:10.1164/rccm.201712-2388OC.

Management of bronchiectasis in adults.

Visser SK, Bye P, Morgan L

The Medical journal of Australia 2018; (209(4)):177-183 doi:10.5694/mja17.01195.

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.

Personalized Therapy: Immunoglobulin Replacement for Antibody Deficiency.

Wasserman RL

Immunology and allergy clinics of North America 2019; (39(1)):95-111 doi:10.1016/j.iac.2018.08.001.

Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study.

Ferrua F, Galimberti S, Courteille V, et al.

The Journal of allergy and clinical immunology 2019; (143(6)):2238-2253 doi:10.1016/j.jaci.2018.12.1010.

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects.

Hsu AP, Donkó A, Arrington ME, et al.

Blood 2019; (133(18)):1977-1988 doi:10.1182/blood-2018-11-886028.

Early high-flow nasal cannula oxygen therapy in adults with acute hypoxemic respiratory failure in the ED: A before-after study.

Macé J, Marjanovic N, Faranpour F, et al.

The American journal of emergency medicine 2019; (37(11)):2091-2096 doi:10.1016/j.ajem.2019.03.004.

Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections.

Sharapova SO, Haapaniemi E, Sakovich IS, et al.

Clinical immunology (Orlando, Fla.) 2019; (205()):1-5 doi:10.1016/j.clim.2019.05.003.

Considerations for hematopoietic stem cell transplantation in primary immunodeficiency disorders.

Gavrilova T

World journal of transplantation 2019; (9(3)):48-57 doi:10.5500/wjt.v9.i3.48.

Long-term macrolide antibiotics for the treatment of bronchiectasis in adults: an individual participant data meta-analysis.

Chalmers JD, Boersma W, Lonergan M, et al.

The Lancet. Respiratory medicine 2019; (7(10)):845-854 doi:10.1016/S2213-2600(19)30191-2.

Prospective Study of a Novel, Radiation-Free, Reduced-Intensity Bone Marrow Transplantation Platform for Primary Immunodeficiency Diseases.

Dimitrova D, Gea-Banacloche J, Steinberg SM, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2020; (26(1)):94-106 doi:10.1016/j.bbmt.2019.08.018.

Mismatched related vs matched unrelated donors in TCRαβ/CD19-depleted HSCT for primary immunodeficiencies.

Laberko A, Sultanova E, Gutovskaya E, et al.

Blood 2019; (134(20)):1755-1763 doi:10.1182/blood.2019001757.

Hot topics and current controversies in non-cystic fibrosis bronchiectasis.

Severiche-Bueno D, Gamboa E, Reyes LF, Chotirmall SH

Breathe (Sheffield, England) 2019; (15(4)):286-295 doi:10.1183/20734735.0261-2019.

Hematopoietic Stem Cell Transplantation for Combined Immunodeficiencies, on Behalf of IEWP-EBMT.

Neven B, Ferrua F

Frontiers in pediatrics 2019; (7()):552 doi:10.3389/fped.2019.00552.

Effectiveness of chest physiotherapy and pulmonary rehabilitation in patients with non-cystic fibrosis bronchiectasis: a narrative review.

Annoni S, Bellofiore A, Repossini E, et al.

Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace 2020; (90(1)) doi:10.4081/monaldi.2020.1107.

The molecular basis for immune dysregulation by the hyperactivated E62K mutant of the GTPase RAC2.

Arrington ME, Temple B, Schaefer A, Campbell SL

The Journal of biological chemistry 2020; (295(34)):12130-12142 doi:10.1074/jbc.RA120.012915.

The challenges presented by haematopoietic stem cell transplantation in children with primary immunodeficiency.

Gennery AR

British medical bulletin 2020; (135(1)):4-15 doi:10.1093/bmb/ldaa017.

Establishing Simultaneous T Cell Receptor Excision Circles (TREC) and K-Deleting Recombination Excision Circles (KREC) Quantification Assays and Laboratory Reference Intervals in Healthy Individuals of Different Age Groups in Hong Kong.

Kwok JSY, Cheung SKF, Ho JCY, et al.

Frontiers in immunology 2020; (11()):1411 doi:10.3389/fimmu.2020.01411.

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.

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.

Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and III.

Bakhtiar S, Salzmann-Manrique E, Blok HJ, et al.

Blood advances 2021; (5(1)):262-273 doi:10.1182/bloodadvances.2020002185.

Inborn Errors of Immunity and Cancer.

Tiri A, Masetti R, Conti F, et al.

Biology 2021; (10(4)) doi:10.3390/biology10040313.

High flow nasal cannula for adult acute hypoxemic respiratory failure in the ED setting.

Long B, Liang SY, Lentz S

The American journal of emergency medicine 2021; (49()):352-359 doi:10.1016/j.ajem.2021.06.074.

Diagnostic Modalities in Primary Immunodeficiency.

Raymond LS, Leiding J, Forbes-Satter LR

Clinical reviews in allergy & immunology 2022; (63(1)):90-98 doi:10.1007/s12016-022-08933-1.

Homing of granulocytes transfused in perineal cellulitis in a RAC2 deficiency child monitored by chimerism quantification methods.

Pedini P, Sterin A, Clapasson C, Picard C

Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine 2022; (29(3)):265-268 doi:10.1016/j.tracli.2022.03.002.

Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation.

Zhang L, Chen Z, Li W, et al.

Journal of clinical immunology 2022; (42(6)):1280-1292 doi:10.1007/s10875-022-01288-4.

Hyper-IgE and Carcinoma in CADINS Disease.

Pietzsch L, Körholz J, Boschann F, et al.

Frontiers in immunology 2022; (13()):878989 doi:10.3389/fimmu.2022.878989.

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J, Modell V, Johnson B, et al.

Frontiers in immunology 2022; (13()):906540 doi:10.3389/fimmu.2022.906540.

Hemoptysis and the Risk for Lung Transplant or Death without Transplant in Individuals with Cystic Fibrosis in the United States.

Bayomy OF, Ramos KJ, Hee Wai T, et al.

Annals of the American Thoracic Society 2022; (19(12)):1986-1992 doi:10.1513/AnnalsATS.202202-110OC.

A Novel RAC2 Mutation Causing Combined Immunodeficiency.

Zhang L, Lv G, Peng Y, et al.

Journal of clinical immunology 2023; (43(1)):229-240 doi:10.1007/s10875-022-01373-8.

Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E.

Duan X, Shen F, Deng Y, et al.

Journal of clinical immunology 2023; (43(3)):604-614 doi:10.1007/s10875-022-01411-5.

Thoracic Society of Australia and New Zealand (TSANZ) position statement on chronic suppurative lung disease and bronchiectasis in children, adolescents and adults in Australia and New Zealand.

Chang AB, Bell SC, Byrnes CA, et al.

Respirology (Carlton, Vic.) 2023; (28(4)):339-349 doi:10.1111/resp.14479.

Clinical and functional spectrum of RAC2-related immunodeficiency.

Donkó Á, Sharapova SO, Kabat J, et al.

Blood 2024; (143(15)):1476-1487 doi:10.1182/blood.2023022098.

Eradication treatment for Pseudomonas aeruginosa infection in adults with bronchiectasis: a systematic review and meta-analysis.

Conceição M, Shteinberg M, Goeminne P, et al.

European respiratory review : an official journal of the European Respiratory Society 2024; (33(171)) doi:10.1183/16000617.0178-2023.

Effect of allogeneic hematopoietic stem cell transplantation for chronic granulomatous disease in children: A multicentre, retrospective cohort study in China.

Si Y, Dou Y, Zhai X, et al.

Clinical immunology (Orlando, Fla.) 2024; (260()):109919 doi:10.1016/j.clim.2024.109919.

Phenotypic spectrum in a family with a novel RAC2 p.I21S dominant-activating mutation.

Ashby L, Chan L, Winterbourn C, et al.

Clinical & translational immunology 2024; (13(2)):e1493 doi:10.1002/cti2.1493.

Case Report: Profound newborn leukopenia related to a novel RAC2 variant.

Hall G, Donkó Á, Pratt C, et al.

Frontiers in pediatrics 2024; (12()):1365187 doi:10.3389/fped.2024.1365187.

The Dark Side of Activated Phosphoinositide 3-Kinase-δ Syndrome 2: A Story Rewritten through FDG-PET.

Catelli A, Nanni C, Mulè R, et al.

Journal of clinical medicine 2024; (13(8)) doi:10.3390/jcm13082203.

Customizing subcutaneous immunoglobulin administration in primary antibody deficiency: patient-centric care perspectives.

Kobayashi RH, Maltese J, Litzman J, et al.

Immunotherapy 2024; (16(20-22)):1235-1245 doi:10.1080/1750743X.2024.2436343.

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.

Targeting Complex Cutaneous Viral Infections in Search of Inborn Errors of Immunity.

Do Carmo AP, Battle AR, Fragnan NTML, et al.

Acta dermato-venereologica 2025; (105()):adv41318 doi:10.2340/actadv.v105.41318.

Inborn errors of immunity presenting with lymphoproliferation: lessons from a case series.

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

Annals of hematology 2025; (104(6)):3117-3127 doi:10.1007/s00277-025-06456-1.

Inborn Errors of Immunity in Pediatric Hematology and Oncology: Diagnostic Principles for Clinical Practice.

Roberti G, Maestrini G, Polito B, et al.

Journal of clinical medicine 2025; (14(17)) doi:10.3390/jcm14176295.

Immunoglobulin G Trough Levels and Infection Risk in Adults with Inborn Errors of Immunity Receiving Immunoglobulin Therapy.

Aktaş ÖÖ, Özer NO, Kaplankıran C, et al.

Medicina (Kaunas, Lithuania) 2025; (61(9)) doi:10.3390/medicina61091549.

Epidemiology and management of malignancies in patients with inborn errors of immunity-An ESID registry study of 19,959 patients.

Bogaert DJA, Wolfsberger CH, Attarbaschi A, et al.

The Journal of allergy and clinical immunology 2026; (157(3)):739-753 doi:10.1016/j.jaci.2025.10.033.

Case Report: Human metapneumovirus infection leading to septic shock in an adult with COPD and morbid obesity.

Virzì F, Giacopelli G, Tutone P, et al.

Frontiers in medicine 2025; (12()):1735031 doi:10.3389/fmed.2025.1735031.

[Non-invasive respiratory support for acute respiratory failure with focus on high-flow oxygen therapy and non-invasive Ventilation].

Fisser C, Malfertheiner M, Lepper PM, Mang S

Pneumologie (Stuttgart, Germany) 2026; (80(7)):493-499 doi:10.1055/a-2776-7023.

Case Report: Characterization of a RAC2 R68W homozygous activating mutation causing combined immune deficiency.

Desjardins A, Marois L, Donkó Á, et al.

Frontiers in immunology 2026; (17()):1723142 doi:10.3389/fimmu.2026.1723142.

Multidisciplinary Delphi consensus on malignancy screening in patients with common variable immunodeficiency.

Cabanero-Navalon MD, de Andrés-Martín A, Gil AA, et al.

Frontiers in immunology 2026; (17()):1897051 doi:10.3389/fimmu.2026.1897051.

Functional Clinical Flow Cytometry Assays to Assess Lymphocyte Proliferation, Neutrophil Oxidative Burst, and Leukocyte Adhesion Deficiency Immune Defects.

Cornaby C, O'Gorman MR

Current protocols 2026; (6(10)):e70462 doi:10.1002/cpz1.70462.