Research & Literature

X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome.

Aguilar C, Latour S

Journal of clinical immunology 2015; (35(4)):331-8 doi:10.1007/s10875-015-0141-9.

Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency.

Dziadzio M, Ammann S, Canning C, et al.

Journal of clinical immunology 2015; (35(5)):439-44 doi:10.1007/s10875-015-0166-0.

WASP-WIP complex in the molecular pathogenesis of Wiskott-Aldrich syndrome.

Sasahara Y

Pediatrics international : official journal of the Japan Pediatric Society 2016; (58(1)):4-7 doi:10.1111/ped.12819.

Intensity of MRI Gadolinium Enhancement in Cerebral Adrenoleukodystrophy: A Biomarker for Inflammation and Predictor of Outcome following Transplantation in Higher Risk Patients.

Miller WP, Mantovani LF, Muzic J, et al.

AJNR. American journal of neuroradiology 2016; (37(2)):367-72 doi:10.3174/ajnr.A4500.

X-linked Adrenoleukodystrophy, The Tunisian Experience.

Nasrallah F, Kraoua I, Zidi W, et al.

Clinical laboratory 2015; (61(10)):1531-6 doi:10.7754/clin.lab.2015.150318.

Inhibition of diacylglycerol kinase α restores restimulation-induced cell death and reduces immunopathology in XLP-1.

Ruffo E, Malacarne V, Larsen SE, et al.

Science translational medicine 2016; (8(321)):321ra7 doi:10.1126/scitranslmed.aad1565.

[X-linked lymphoproliferative syndrome type 1 complicated with secondary hemophagocytic lymphohistiocytosis and ileal perforation: case report and literature review].

Xiao L, Guan XM, Meng Y, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2016; (54(4)):290-3 doi:10.3760/cma.j.issn.0578-1310.2016.04.013.

Successful allogeneic hematopoietic stem cell transplantation in a boy with X-linked inhibitor of apoptosis deficiency presenting with hemophagocytic lymphohistiocytosis: A case report.

Jiang MY, Guo X, Sun SW, et al.

Experimental and therapeutic medicine 2016; (12(3)):1341-1344 doi:10.3892/etm.2016.3498.

25-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome.

Jang J, Park S, Jin Hur H, et al.

Nature communications 2016; (7()):13129 doi:10.1038/ncomms13129.

Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan.

Ono S, Okano T, Hoshino A, et al.

Journal of clinical immunology 2017; (37(1)):85-91 doi:10.1007/s10875-016-0348-4.

Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study.

Tran C, Patel J, Stacy H, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2017; (21(4)):600-609 doi:10.1016/j.ejpn.2017.02.006.

Neurocognitive Trajectory of Boys Who Received a Hematopoietic Stem Cell Transplant at an Early Stage of Childhood Cerebral Adrenoleukodystrophy.

Pierpont EI, Eisengart JB, Shanley R, et al.

JAMA neurology 2017; (74(6)):710-717 doi:10.1001/jamaneurol.2017.0013.

[Two families of X-linked lymphoproliferative disease type 1 characterized by agammaglobulinemia].

Li WY, Chen JS, Zhao Q, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2017; (55(5)):377-382 doi:10.3760/cma.j.issn.0578-1310.2017.05.014.

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.

Eichler F, Duncan C, Musolino PL, et al.

The New England journal of medicine 2017; (377(17)):1630-1638 doi:10.1056/NEJMoa1700554.

Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome.

Candotti F

Journal of clinical immunology 2018; (38(1)):13-27 doi:10.1007/s10875-017-0453-z.

Psychiatric disease in an adolescent as a harbinger of cerebral X-linked adrenoleukodystrophy.

Smith J, Williams MT, Misra VK

Practical neurology 2018; (18(3)):242-245 doi:10.1136/practneurol-2017-001718.

[X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia: report of a family and literature review].

He TY, Xia Y, Li CG, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2018; (56(1)):48-52 doi:10.3760/cma.j.issn.0578-1310.2018.01.013.

Childhood cerebral X-linked adrenoleukodystrophy with atypical neuroimaging abnormalities and a novel mutation.

Muranjan M, Karande S, Sankhe S, Eichler S

Journal of postgraduate medicine 2018; (64(1)):59-63 doi:10.4103/jpgm.JPGM_349_17.

Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report.

Lyu X, Guo Z, Li Y, et al.

BMC medical genetics 2018; (19(1)):60 doi:10.1186/s12881-018-0576-y.

Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation.

Raymond GV, Aubourg P, Paker A, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2019; (25(3)):538-548 doi:10.1016/j.bbmt.2018.09.036.

2B4 dysfunction in XLP1 NK cells: More than inability to control EBV infection.

Pende D, Meazza R, Marcenaro S, et al.

Clinical immunology (Orlando, Fla.) 2019; (204()):31-36 doi:10.1016/j.clim.2018.10.022.

Potential Risks to Stable Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation for Children With Cerebral X-linked Adrenoleukodystrophy.

Kühl JS, Kupper J, Baqué H, et al.

JAMA network open 2018; (1(3)):e180769 doi:10.1001/jamanetworkopen.2018.0769.

Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.

Blommaert E, Péanne R, Cherepanova NA, et al.

Proceedings of the National Academy of Sciences of the United States of America 2019; (116(20)):9865-9870 doi:10.1073/pnas.1817815116.

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.

Haffner D, Emma F, Eastwood DM, et al.

Nature reviews. Nephrology 2019; (15(7)):435-455 doi:10.1038/s41581-019-0152-5.

When WAS Gene Diagnosis Is Needed: Seeking Clues Through Comparison Between Patients With Wiskott-Aldrich Syndrome and Idiopathic Thrombocytopenic Purpura.

Jin YY, Wu J, Chen TX, Chen J

Frontiers in immunology 2019; (10()):1549 doi:10.3389/fimmu.2019.01549.

Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.

Ravell JC, Matsuda-Lennikov M, Chauvin SD, et al.

The Journal of clinical investigation 2020; (130(1)):507-522.

X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic.

Xu T, Zhao Q, Li W, et al.

European journal of pediatrics 2020; (179(2)):327-338 doi:10.1007/s00431-019-03512-7.

Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease.

Torralba-Raga L, Tesi B, Chiang SCC, et al.

Pediatric blood & cancer 2020; (67(4)):e28184 doi:10.1002/pbc.28184.

Pediatric hemophagocytic lymphohistiocytosis.

Canna SW, Marsh RA

Blood 2020; (135(16)):1332-1343 doi:10.1182/blood.2019000936.

Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.

Burroughs LM, Petrovic A, Brazauskas R, et al.

Blood 2020; (135(23)):2094-2105 doi:10.1182/blood.2019002939.

Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal Antibodies

Ryalls MR, Gan HW, Davison JE

Journal of clinical research in pediatric endocrinology 2021; (13(2)):212-217 doi:10.4274/jcrpe.galenos.2020.2020.0214.

An Update on XMEN Disease.

Ravell JC, Chauvin SD, He T, Lenardo M

Journal of clinical immunology 2020; (40(5)):671-681 doi:10.1007/s10875-020-00790-x.

Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report.

Glanzmann B, Möller M, Schoeman M, et al.

BMC medical genetics 2020; (21(1)):124 doi:10.1186/s12881-020-01054-6.

Geographic Variability and Pathogen-Specific Considerations in the Diagnosis and Management of Chronic Granulomatous Disease.

Prince BT, Thielen BK, Williams KW, et al.

Pediatric health, medicine and therapeutics 2020; (11()):257-268 doi:10.2147/PHMT.S254253.

A 2020 update on the use of genetic testing for patients with primary immunodeficiency.

Chinn IK, Orange JS

Expert review of clinical immunology 2020; (16(9)):897-909 doi:10.1080/1744666X.2020.1814145.

Epstein-Barr virus-related hemophagocytic lymphohistiocytosis complicated with coronary artery dilation and acute renal injury in a boy with a novel X-linked inhibitor of apoptosis protein (XIAP) variant: a case report.

Chen RY, Li XZ, Lin Q, et al.

BMC pediatrics 2020; (20(1)):456 doi:10.1186/s12887-020-02359-4.

MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.

Mallack EJ, Turk BR, Yan H, et al.

Journal of inherited metabolic disease 2021; (44(3)):728-739 doi:10.1002/jimd.12356.

Wiskott Aldrich Syndrome: A Multi-Institutional Experience From India.

Suri D, Rikhi R, Jindal AK, et al.

Frontiers in immunology 2021; (12()):627651 doi:10.3389/fimmu.2021.627651.

Hematopoietic Stem Cell Therapy for Wiskott-Aldrich Syndrome: Improved Outcome and Quality of Life.

Mallhi KK, Petrovic A, Ochs HD

Journal of blood medicine 2021; (12()):435-447 doi:10.2147/JBM.S232650.

Hematopoietic Cell Transplantation Rescues Inflammatory Bowel Disease and Dysbiosis of Gut Microbiota in XIAP Deficiency.

Ono S, Takeshita K, Kiridoshi Y, et al.

The journal of allergy and clinical immunology. In practice 2021; (9(10)):3767-3780 doi:10.1016/j.jaip.2021.05.045.

Case Report: Wiskott-Aldrich Syndrome Caused by Extremely Skewed X-Chromosome Inactivation in a Chinese Girl.

Hou X, Sun J, Liu C, Hao J

Frontiers in pediatrics 2021; (9()):691524 doi:10.3389/fped.2021.691524.

Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.

Sudhakar M, Rikhi R, Loganathan SK, et al.

The application of clinical genetics 2021; (14()):363-388 doi:10.2147/TACG.S213920.

Reduced-Intensity/Reduced-Toxicity Conditioning Approaches Are Tolerated in XIAP Deficiency but Patients Fare Poorly with Acute GVHD.

Arnold DE, Nofal R, Wakefield C, et al.

Journal of clinical immunology 2022; (42(1)):36-45 doi:10.1007/s10875-021-01103-6.

[X-linked adrenoleukodystrophy: A case of acute childhood cerebral presentation].

Posada Bustos S, Charry Lopez ML, Espinosa García E

Andes pediatrica : revista Chilena de pediatria 2021; (92(4)):602-608 doi:10.32641/andespediatr.v92i4.3345.

A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease.

Chauvin SD, Price S, Zou J, et al.

Journal of clinical immunology 2022; (42(1)):108-118 doi:10.1007/s10875-021-01137-w.

Variables affecting outcomes after allogeneic hematopoietic stem cell transplant for cerebral adrenoleukodystrophy.

Chiesa R, Boelens JJ, Duncan CN, et al.

Blood advances 2022; (6(5)):1512-1524 doi:10.1182/bloodadvances.2021005294.

Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency.

Yang L, Booth C, Speckmann C, et al.

The Journal of allergy and clinical immunology 2022; (150(2)):456-466 doi:10.1016/j.jaci.2021.10.037.

Structures of the human peroxisomal fatty acid transporter ABCD1 in a lipid environment.

Le LTM, Thompson JR, Dang PX, et al.

Communications biology 2022; (5(1)):7 doi:10.1038/s42003-021-02970-w.

Exon skipping caused by a complex structural variation in SH2D1A resulted in X-linked lymphoproliferative syndrome type 1.

Wu L, Yang F, Wang J, et al.

Molecular genetics & genomic medicine 2022; (10(3)):e1873 doi:10.1002/mgg3.1873.

Further Delineation of the Spectrum of XMEN Disease in Six Chinese Pediatric Patients.

Peng X, Lu Y, Wang H, et al.

Frontiers in genetics 2022; (13()):768000 doi:10.3389/fgene.2022.768000.

Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation.

Blommaert E, Cherepanova NA, Staels F, et al.

Human genetics 2022; (141(7)):1279-1286 doi:10.1007/s00439-021-02400-1.

Novel MAGT1 Mutation Found in the First Chinese XMEN in Hong Kong.

Au EYL, Tung EKK, Ip RWK, Li PH

Case reports in immunology 2022; (2022()):2390167 doi:10.1155/2022/2390167.

Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease.

Watson CM, Nadat F, Ahmed S, et al.

Genes and immunity 2022; (23(2)):66-72 doi:10.1038/s41435-022-00166-8.

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.

Preemptive hematopoietic cell transplantation for asymptomatic patients with X-linked lymphoproliferative syndrome type 1.

Tomomasa D, Booth C, Bleesing JJ, et al.

Clinical immunology (Orlando, Fla.) 2022; (237()):108993 doi:10.1016/j.clim.2022.108993.

Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy.

Wiersma RE, Gupta AO, Lund TC, et al.

Journal of the Endocrine Society 2022; (6(5)):bvac039 doi:10.1210/jendso/bvac039.

Droplet digital PCR for identifying copy number variations in patients with primary immunodeficiency disorders.

Woon ST, Mayes J, Quach A, et al.

Clinical and experimental immunology 2022; (207(3)):329-335 doi:10.1093/cei/uxab034.

Presymptomatic Lesion in Childhood Cerebral Adrenoleukodystrophy: Timing and Treatment.

Mallack EJ, Van Haren KP, Torrey A, et al.

Neurology 2022; (99(5)):e512-e520 doi:10.1212/WNL.0000000000200571.

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges.

Baker CV, Cady Keller A, Lutz R, et al.

International journal of neonatal screening 2022; (8(2)) doi:10.3390/ijns8020029.

Fatal X-linked lymphoproliferative disease type 1-associated limbic encephalitis with positive anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody.

Ochiai S, Hayakawa I, Ohashi E, et al.

Brain & development 2022; (44(9)):630-634 doi:10.1016/j.braindev.2022.06.004.

Recurrent episodes of vomiting and diarrhoea in a male child: a rare presentation of X-linked adrenoleukodystrophy.

Gupta P, Keller SR, Patterson B

BMJ case reports 2022; (15(8)) doi:10.1136/bcr-2022-249905.

Emerging cellular themes in leukodystrophies.

Nowacki JC, Fields AM, Fu MM

Frontiers in cell and developmental biology 2022; (10()):902261 doi:10.3389/fcell.2022.902261.

Structural insights into substrate recognition and translocation of human peroxisomal ABC transporter ALDP.

Xiong C, Jia LN, Xiong WX, et al.

Signal transduction and targeted therapy 2023; (8(1)):74 doi:10.1038/s41392-022-01280-9.

Successful Autologous Bone Marrow Transplantation in Active COVID-19 Patients: Case Report.

Amer R, Sabateen A, El-Hamshary Y, et al.

Transplantation proceedings 2023; (55(3)):543-546 doi:10.1016/j.transproceed.2023.02.032.

Initial frontal lobe involvement in adult cerebral X-linked adrenoleukodystrophy.

Jiang W, Jin W, Zhao H, et al.

Acta neurologica Belgica 2023; (123(6)):2259-2268 doi:10.1007/s13760-023-02295-x.

Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome.

Labrosse R, Chu JI, Armant MA, et al.

Blood 2023; (142(15)):1281-1296 doi:10.1182/blood.2022019117.

X-linked adrenoleukodystrophy and primary adrenal insufficiency.

Cappa M, Todisco T, Bizzarri C

Frontiers in endocrinology 2023; (14()):1309053 doi:10.3389/fendo.2023.1309053.

Adult-onset neurodegeneration in XMEN disease.

Benavides D, Ebrahim A, Ravell JC, et al.

Journal of neuroimmunology 2024; (386()):578251 doi:10.1016/j.jneuroim.2023.578251.

X-Linked Lymphoproliferative Syndrome: A Spectrum of Clinical and Immunological Profile and Novel Pathogenic Variants from Chandigarh, India.

Jindal AK, Mondal S, Sil A, et al.

International archives of allergy and immunology 2024; (185(4)):370-381 doi:10.1159/000531296.

Case report: Non-EBV associated cerebral vasculitis and cerebral hemorrhage in X-linked lymphoproliferative disease.

Li B, Chen W, Cai X, et al.

Frontiers in immunology 2024; (15()):1381472 doi:10.3389/fimmu.2024.1381472.

Interleukin-1-mediated hyperinflammation in XIAP deficiency is associated with defective autophagy.

Dissanayake D, Firouzabady A, Massumi M, et al.

Blood 2024; (144(11)):1183-1192 doi:10.1182/blood.2023023707.

Hematopoietic stem cell therapy and ex vivo gene therapy for X-linked adrenoleukodystrophy.

Eichler FS, Kuehl JS

Handbook of clinical neurology 2024; (202()):265-278 doi:10.1016/B978-0-323-90242-7.00018-3.

Consensus of the Italian Primary Immunodeficiency Network on the use and interpretation of genetic testing for diagnosing inborn errors of immunity.

Giardino G, Di Matteo G, Giliani S, et al.

The Journal of allergy and clinical immunology 2025; (155(4)):1149-1160 doi:10.1016/j.jaci.2024.11.030.

Gene Correction of Wiskott-Aldrich syndrome iPS Cells Rescues Proplatelet Defects and Improves Platelet Size.

Ingrungruanglert P, Phodang S, Amarinthnukrowh P, et al.

Thrombosis and haemostasis 2025; (125(11)):1115-1126 doi:10.1055/a-2508-0983.

Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome.

Toriello E, Maritato R, De Rosa A, et al.

Frontiers in immunology 2025; (16()):1517347 doi:10.3389/fimmu.2025.1517347.

Comprehensive flow cytometry-based diagnosis of XIAP deficiency.

Tomomasa D, Nishimura M, Ohya A, et al.

Clinical and experimental immunology 2025; (219(1)) doi:10.1093/cei/uxaf020.

Epstein-Barr virus infection plays a crucial role in triggering hemophagocytic lymphohistiocytosis in patients with X-linked inhibitor of apoptosis protein deficiency.

Shi L, Dou L, Wang J, Wang Z

Hematology (Amsterdam, Netherlands) 2025; (30(1)):2503745 doi:10.1080/16078454.2025.2503745.

X-linked lymphoproliferative disease type 1: a clinical and genetic update.

Li J, Lv L, Wei Q, et al.

Frontiers in immunology 2025; (16()):1620327 doi:10.3389/fimmu.2025.1620327.

Screening for Wiskott-Aldrich Syndrome in Chronic Idiopathic Thrombocytopenic Purpura.

Deivasigamani P, Basu S, Rikhi R, et al.

Indian journal of pediatrics 2025; (92(10)):1104-1106 doi:10.1007/s12098-025-05712-6.

Case Report: Incidental diagnosis of cystic fibrosis via whole genome sequencing alters HSCT planning in a child with cerebral X-linked adrenoleukodystrophy.

Sy JAC, Tan PL, Lin JB, et al.

Frontiers in pediatrics 2025; (13()):1650645 doi:10.3389/fped.2025.1650645.

Atypical Presentation in X-linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus (EBV) Infection, and Neoplasia (XMEN) Disease: A Case Report and Review of Emerging Therapies.

Madsen M, Sidlow R

Cureus 2025; (17(8)):e91193 doi:10.7759/cureus.91193.

The neurologic face of X-linked lymphoproliferative syndrome type 1: a systematic review.

Rajabi E, Gharagozlou S, Farhadi K, et al.

Orphanet journal of rare diseases 2025; (20(1)):528 doi:10.1186/s13023-025-04057-9.

Atypical Phenotype of Predominant Autoimmune Cytopenia and Impaired Perforin Expression in XMEN Syndrome.

Grombirikova H, Markocsy A, Kocurkova A, et al.

Journal of immunology research 2025; (2025()):3161910 doi:10.1155/jimr/3161910.

Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.

Lee JK, Jang JH, Kim DR, et al.

Journal of clinical immunology 2025; (45(1)):170.

Comprehensive clinical and immunologic characterization of Wiskott-Aldrich syndrome in Iran: a 10-year cohort study.

Esmaeilzadeh H, Gholami MA, Dehghani SS, et al.

BMC immunology 2025; (26(1)):97 doi:10.1186/s12865-025-00779-4.

Adult onset cerebral adrenoleukodystrophy: report of an atypical case.

Coucke A, Vanacker P, Dutoit J, et al.

Acta neurologica Belgica 2026; (126(2)):687-689 doi:10.1007/s13760-025-02968-9.

Rapid flow cytometric diagnosis of XIAP deficiency.

Wakatsuki R, Nishimura M, Tomomasa D, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2026; (37(1)):e70284 doi:10.1111/pai.70284.

Case Report: A successful case of allogeneic stem cell transplantation for pediatric XMEN characterized by neutropenia.

Tian J, Zheng J, Qin M, et al.

Frontiers in immunology 2026; (17()):1687549 doi:10.3389/fimmu.2026.1687549.

Case Report: Novel MAGT1 pathogenic variant with significant atopy, hypogammaglobulinemia and viral skin infections.

Gunderman L, Ptak CP, Schutt M, et al.

Frontiers in immunology 2026; (17()):1754394 doi:10.3389/fimmu.2026.1754394.

Modifier-Sensitive Phenotypic Divergence in XMEN Disease (MAGT1 Deficiency): Neurodegenerative and Immuno-Hematologic Trajectories.

Kural RF, Galata Z, Gumusburun R, et al.

Journal of clinical medicine 2026; (15(6)) doi:10.3390/jcm15062395.

Identification of a novel nonsense mutation (c.1369 C > T) in the WAS gene in a neonate: a case report and literature review.

Deng S, Liu X, Chen S, et al.

BMC pediatrics 2026; (26(1)).

Pediatric X-linked adrenoleukodystrophy: phenotypes, variants, and HSCT outcomes.

Li J, Ying L, Chang G, et al.

European journal of pediatrics 2026; (185(5)).

Neurological manifestations in Wiskott-Aldrich syndrome: a systematic review.

Raccagni NG, Milanesi VF, Lucchini G, et al.

Frontiers in immunology 2026; (17()):1829058 doi:10.3389/fimmu.2026.1829058.

Trimodal prehabilitation for hematopoietic stem cell transplantation: A best evidence summary.

Wu D, Xue L, Xu L, et al.

Asia-Pacific journal of oncology nursing 2026; (13()):100993 doi:10.1016/j.apjon.2026.100993.

The spectrum of bleeding in Wiskott-Aldrich syndrome: a systematic review and meta-analysis of incidence and mortality.

Yang Z, Tang Z, Zhou L, et al.

Frontiers in immunology 2026; (17()):1854833 doi:10.3389/fimmu.2026.1854833.

Splenectomy revisited in Wiskott-Aldrich syndrome in the era of HSCT and gene therapy: a bridge, a rescue, or simply obsolete?

Khanafer Y, Al-Naemi A, Khayyat L, Cyprian F

Frontiers in immunology 2026; (17()):1851771 doi:10.3389/fimmu.2026.1851771.

Case Report: Hemophagocytic lymphohistiocytosis in an infant associated with cytomegalovirus infection and X-linked primary immunodeficiency.

García-Leon X, Gómez Del Moral M, Ramirez-Velasategui D, et al.

Frontiers in immunology 2026; (17()):1940119 doi:10.3389/fimmu.2026.1940119.

From oncogenesis to approval: the lentiviral gene therapy revolution in Wiskott-Aldrich syndrome.

Karimizadeh Z, Kalantari A, Behfar M, et al.

Regenerative medicine 2026; (21(8-9)):519-528 doi:10.1080/17460751.2026.2741431.