Research & Literature

JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities.

Calvo KR, Price S, Braylan RC, et al.

Blood 2015; (125(18)):2753-8 doi:10.1182/blood-2014-11-567917.

Somatic mosaicism for a NRAS mutation associates with disparate clinical features in RAS-associated leukoproliferative disease: a report of two cases.

Shiota M, Yang X, Kubokawa M, et al.

Journal of clinical immunology 2015; (35(5)):454-8 doi:10.1007/s10875-015-0163-3.

Mycophenolate mofetil and Sirolimus as second or further line treatment in children with chronic refractory Primitive or Secondary Autoimmune Cytopenias: a single centre experience.

Miano M, Scalzone M, Perri K, et al.

British journal of haematology 2015; (171(2)):247-253 doi:10.1111/bjh.13533.

Approaches to Managing Autoimmune Cytopenias in Novel Immunological Disorders with Genetic Underpinnings Like Autoimmune Lymphoproliferative Syndrome.

Rao VK

Frontiers in pediatrics 2015; (3()):65 doi:10.3389/fped.2015.00065.

Sirolimus is effective in relapsed/refractory autoimmune cytopenias: results of a prospective multi-institutional trial.

Bride KL, Vincent T, Smith-Whitley K, et al.

Blood 2016; (127(1)):17-28 doi:10.1182/blood-2015-07-657981.

T and B cell clonal expansion in Ras-associated lymphoproliferative disease (RALD) as revealed by next-generation sequencing.

Levy-Mendelovich S, Lev A, Rechavi E, et al.

Clinical and experimental immunology 2017; (189(3)):310-317 doi:10.1111/cei.12986.

A case report of septic shock syndrome caused by S. pneumoniae in an immunocompromised patient despite of vaccination.

Singer J, Testori C, Schellongowski P, et al.

BMC infectious diseases 2017; (17(1)):442 doi:10.1186/s12879-017-2481-y.

What's up in the ALPS.

Rieux-Laucat F

Current opinion in immunology 2017; (49()):79-86 doi:10.1016/j.coi.2017.10.001.

[Ras-associated autoimmune leukoproliferative disorder: a report of 2 cases and literature review].

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

Zhonghua er ke za zhi = Chinese journal of pediatrics 2017; (55(11)):853-857 doi:10.3760/cma.j.issn.0578-1310.2017.11.013.

Sirolimus in patients with clinically active systemic lupus erythematosus resistant to, or intolerant of, conventional medications: a single-arm, open-label, phase 1/2 trial.

Lai ZW, Kelly R, Winans T, et al.

Lancet (London, England) 2018; (391(10126)):1186-1196 doi:10.1016/S0140-6736(18)30485-9.

Cutaneous involvement in an 8-year-old boy with Ras-associated autoimmune leucoproliferative disorder (RALD).

Giacaman A, Bauzá Alonso A, Salinas Sanz JA, et al.

Clinical and experimental dermatology 2018; (43(8)):913-916 doi:10.1111/ced.13668.

Status of KRAS in iPSCs Impacts upon Self-Renewal and Differentiation Propensity.

Kubara K, Yamazaki K, Ishihara Y, et al.

Stem cell reports 2018; (11(2)):380-394 doi:10.1016/j.stemcr.2018.06.008.

Weekly Rituximab Followed by Monthly Rituximab Treatment for Autoimmune Disease Associated With RAS-associated Autoimmune Leukoproliferative Disease.

Toyoda H, Deguchi T, Iwamoto S, et al.

Journal of pediatric hematology/oncology 2018; (40(8)):e516-e518 doi:10.1097/MPH.0000000000001276.

Evans syndrome: clinical perspectives, biological insights and treatment modalities.

Jaime-Pérez JC, Aguilar-Calderón PE, Salazar-Cavazos L, Gómez-Almaguer D

Journal of blood medicine 2018; (9()):171-184 doi:10.2147/JBM.S176144.

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.

Seidel MG, Kindle G, Gathmann B, et al.

The journal of allergy and clinical immunology. In practice 2019; (7(6)):1763-1770 doi:10.1016/j.jaip.2019.02.004.

Autoimmune Lymphoproliferative Syndrome: An Overview.

Matson DR, Yang DT

Archives of pathology & laboratory medicine 2020; (144(2)):245-251 doi:10.5858/arpa.2018-0190-RS.

RAS-associated Autoimmune Leukoproliferative disease (RALD) manifested with early-onset SLE-like syndrome: a case series of RALD in Chinese children.

Wang W, Zhou Y, Zhong L, et al.

Pediatric rheumatology online journal 2019; (17(1)):55 doi:10.1186/s12969-019-0346-1.

Key diagnostic markers for autoimmune lymphoproliferative syndrome with molecular genetic diagnosis.

Molnár E, Radwan N, Kovács G, et al.

Blood 2020; (136(17)):1933-1945 doi:10.1182/blood.2020005486.

Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD).

Neven Q, Boulanger C, Bruwier A, et al.

Journal of clinical immunology 2021; (41(1)):51-58 doi:10.1007/s10875-020-00883-7.

Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS).

Casamayor-Polo L, López-Nevado M, Paz-Artal E, et al.

Critical reviews in clinical laboratory sciences 2021; (58(4)):253-274 doi:10.1080/10408363.2020.1855623.

Mapping Out Autoimmunity Control in Primary Immune Regulatory Disorders.

Farmer JR, Uzel G

The journal of allergy and clinical immunology. In practice 2021; (9(2)):653-659 doi:10.1016/j.jaip.2020.12.024.

Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report.

Blanchard-Rohner G, Ragotte RJ, Junker AK, et al.

BMC pediatrics 2021; (21(1)):45 doi:10.1186/s12887-021-02508-3.

Immune cytopenias as a continuum in inborn errors of immunity: An in-depth clinical and immunological exploration.

Zama D, Conti F, Moratti M, et al.

Immunity, inflammation and disease 2021; (9(2)):583-594 doi:10.1002/iid3.420.

Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.

López-Nevado M, González-Granado LI, Ruiz-García R, et al.

Frontiers in immunology 2021; (12()):671755 doi:10.3389/fimmu.2021.671755.

Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).

Papa R, Rusmini M, Schena F, et al.

Clinical immunology (Orlando, Fla.) 2021; (231()):108837 doi:10.1016/j.clim.2021.108837.

Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity.

Malik A, Stringer E, Warner N, et al.

Pediatrics 2021; (148(5)) doi:10.1542/peds.2021-050614.

Non-malignant, non-infectious lymphoproliferation: challenges in the diagnosis and treatment of autoimmune lymphoproliferative syndrome

Molnár E, Kovács G, Varga L, et al.

Orvosi hetilap 2022; (163(4)):123-131 doi:10.1556/650.2022.32353.

Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.

Batlle-Masó L, Garcia-Prat M, Parra-Martínez A, et al.

Frontiers in immunology 2022; (13()):1014984 doi:10.3389/fimmu.2022.1014984.

Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.

Maccari ME, Wolkewitz M, Schwab C, et al.

The Journal of allergy and clinical immunology 2023; (152(4)):984-996.e10 doi:10.1016/j.jaci.2023.06.015.

Severe RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features.

Kurita D, Shiba N, Ohya T, et al.

Journal of clinical immunology 2023; (43(8)):1992-1996 doi:10.1007/s10875-023-01566-9.

Sirolimus is effective for primary refractory/relapsed warm autoimmune haemolytic anaemia/Evans syndrome: a retrospective single-center study.

Zhang Z, Hu Q, Yang C, et al.

Annals of medicine 2023; (55(2)):2282180 doi:10.1080/07853890.2023.2282180.

Autoimmune lymphoproliferative immunodeficiencies (ALPIDs): A proposed approach to redefining ALPS and other lymphoproliferative immune disorders.

Magerus A, Rensing-Ehl A, Rao VK, et al.

The Journal of allergy and clinical immunology 2024; (153(1)):67-76 doi:10.1016/j.jaci.2023.11.004.

Too much of a good thing: a review of primary immune regulatory disorders.

Tsilifis C, Slatter MA, Gennery AR

Frontiers in immunology 2023; (14()):1279201 doi:10.3389/fimmu.2023.1279201.

Clinical updates in inborn errors of immunity: a focus on the noninfectious clinical manifestations.

Campbell E, Shaker MS, Williams KW

Current opinion in pediatrics 2024; (36(2)):228-236 doi:10.1097/MOP.0000000000001331.

Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.

Hägele P, Staus P, Scheible R, et al.

The Lancet. Haematology 2024; (11(2)):e114-e126 doi:10.1016/S2352-3026(23)00362-9.

Monoallelic KRAS (G13C) mutation triggers dysregulated expansion in induced pluripotent stem cell-derived hematopoietic progenitor cells.

Lin HT, Takagi M, Kubara K, et al.

Stem cell research & therapy 2024; (15(1)):106 doi:10.1186/s13287-024-03723-2.

Ras-associated autoimmune lymphoproliferative disorder.

Sullivan KE, Lambert M

British journal of haematology 2024; (205(3)):819-822 doi:10.1111/bjh.19564.

Multidisciplinary approach to treating complex immune dysregulation disorders: an adaptive model for institutional implementation.

Henderson LA, Abraham RS, Ahmed A, et al.

Frontiers in immunology 2025; (16()):1519955 doi:10.3389/fimmu.2025.1519955.

[Progress in diagnosis and treatment of RAS-related autoimmune lymphoproliferative disorder].

Ren JN, Wan Y, Zhu XF

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2025; (27(9)):1149-1155 doi:10.7499/j.issn.1008-8830.2502103.

Diffuse Large B-cell lymphoma in a Ras-Associated Autoimmune Leukoproliferative Disorder (RALD).

Sun C, Zhao L, Xia J, et al.

Annals of hematology 2025; (104(11)):6109-6113 doi:10.1007/s00277-025-06555-z.

Early-onset systemic lupus erythematosus in a patient with an inborn error of immunity caused by a NRAS mutation and treated with telitacicept.

Kang Z, Zhang L

Molecular and cellular pediatrics 2025; (12(1)):24 doi:10.1186/s40348-025-00212-1.

Mosaic variants in KRAS and STAT5B associated with a mixed phenotype of 2 acquired errors of immunity.

Forkgen J, Masle-Farquhar E, Fontaine Y, et al.

The Journal of allergy and clinical immunology 2026; (157(5)):1218-1223.e3 doi:10.1016/j.jaci.2026.01.018.

Sirolimus for refractory/relapsed warm autoimmune hemolytic anemia and Evans syndrome: a prospective study.

Wang Q, Liu Z, Yang C, et al.

Blood advances 2026; (10(18)):6198-6207 doi:10.1182/bloodadvances.2026019844.

Recurrent and unusual infections unmasking a rare inborn error of immunity: a case report RAS-associated Autoimmune Lymphoproliferative Disease (RALD).

Ahmad Shawaludin MQ, Nik MAC, Zainudeen ZT, et al.

BMC pediatrics 2026; (26(1)).

Case Report: Haemopoietic stem cell transplantation in refractory paediatric RAS-associated lymphoproliferative disorder.

Senthil S, Matalliotakis MG, Hughes S, et al.

Frontiers in immunology 2026; (17()):1850700 doi:10.3389/fimmu.2026.1850700.

Intersection Between Systemic Autoimmune Diseases, Primary Immunodeficiency and Cancer: a Field in its Infancy.

Sánchez-Ramón S, Ramos-Lisbona AI, Karim MY

Journal of clinical immunology 2026; (46(1)).

Juvenile Myelomonocytic Leukemia Presenting with Unusual Immunonologic Manifestations: Report of a Case with Multiple Somatic Genetic Aberrations Including KRAS and Novel ETV6 Mutations.

Brannock KR, Kaumeyer B, Nicol KK, et al.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2026; 10935266261466228 doi:10.1177/10935266261466228.

Case Report: RAS-associated autoimmune leukoproliferative disorder presenting with early-onset liver failure in a 9-month-old Chinese girl.

Zheng L, Li D, Zhang T

Frontiers in pediatrics 2026; (14()):1943641 doi:10.3389/fped.2026.1943641.