Canale VC, Smith CH. Chronic lymphadenopathy simulating malignant lymphoma. J Pediatr. 1967;70:891–9.

Article  CAS  PubMed  Google Scholar 

Rieux-Laucat F, Magérus-Chatinet A, Neven B. The autoimmune lymphoproliferative syndrome with defective FAS or FAS-Ligand functions. J Clin Immunol. 2018;38:558–68.

Article  CAS  PubMed  Google Scholar 

Magerus A, Bercher-Brayer C, Rieux-Laucat F. The genetic landscape of the FAS pathway deficiencies. Biomed J. 2021;44:388–99.

Article  PubMed Central  CAS  PubMed  Google Scholar 

Bettinardi A, Brugnoni D, Quiròs-Roldan E, Malagoli A, La Grutta S, Correra A, et al. Missense mutations in the Fas Gene resulting in Autoimmune Lymphoproliferative Syndrome: a molecular and immunological analysis. Blood. 1997;89:902–9.

Article  CAS  PubMed  Google Scholar 

Rieux-Laucat F, Le Deist F, Hivroz C, Roberts IAG, Debatin KM, Fischer A, et al. Mutations in Fas Associated with Human Lymphoproliferative Syndrome and Autoimmunity. Science. 1995;268:1347–9.

Article  CAS  PubMed  Google Scholar 

Kasahara Y, Wada T, Niida Y, Yachie A, Seki H, Ishida Y, et al. Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder. Int Immunol. 1998;10:195–202.

Article  CAS  PubMed  Google Scholar 

Elgharbawy FM, Karim MY, Soliman DS, Hassan AS, Sudarsanan A, Gad A. Case report: neonatal autoimmune lymphoproliferative syndrome with a novel pathogenic homozygous FAS variant effectively treated with sirolimus. Front Pediatr. 2023;11:1150179.

Article  PubMed Central  PubMed  Google Scholar 

Hansford JR, Pal M, Poplawski N, Haan E, Boog B, Ferrante A, et al. In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation. Haematologica. 2013;98:e38.

Article  PubMed Central  PubMed  Google Scholar 

Naveed M, Butt UBK, Mannan J. Autoimmune Lymphoproliferative Syndrome Neonatal Onset. 2014;24.

Kahwash SB, Fung B, Savelli S, Bleesing JJ, Qualman SJ. Autoimmune lymphoproliferative syndrome (ALPS): a case with congenital onset. Pediatr Dev Pathol. 2007;10:315–9.

Article  PubMed  Google Scholar 

van der Burg M, de Groot R, Comans-Bitter WM, den Hollander JC, Hooijkaas H, Neijens HJ, et al. Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? Pediatr Res. 2000;47(3):336–43.

Chandramati J, Sidharthan N, Ponthenkandath S. Neonatal autoimmune lymphoproliferative syndrome: a case report and a brief review. J Pediatr Hematol Oncol. 2021;43(2):e227–e229.

Lai N, Liu L, Lin L, Cui C, Wang Y, Min Q, et al. Effective and safe treatment of a novel IL2RA deficiency with rapamycin. J Allergy Clin Immunol Pract. 2020;8:1132–e11354.

Article  PubMed  Google Scholar 

Gao J, Luo Y, Li H, Zhao Y, Zhao J, Han X, et al. Deep immunophenotyping of human whole blood by standardized multi-parametric Flow cytometry analyses. Phenomics. 2023;3:309–28.

Article  PubMed Central  CAS  PubMed  Google Scholar 

Wang Y, Wang W, Liu L, Hou J, Ying W, Hui X, et al. Report of a Chinese cohort with activated phosphoinositide 3-Kinase δ syndrome. J Clin Immunol. 2018;38:854–63.

Oliveira JB, Bleesing JJ, Dianzani U, Fleisher TA, Jaffe ES, Lenardo MJ et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood. 2010;116:e35–40.

Mahnke YD, Beddall MH, Roederer M. OMIP-013: differentiation of human T-cells. Cytometry A. 2012;81A:935–6.

Article  CAS  Google Scholar 

Staser KW, Eades W, Choi J, Karpova D, DiPersio JF. OMIP-042: 21-color flow cytometry to comprehensively immunophenotype major lymphocyte and myeloid subsets in human peripheral blood. Cytom Part J Int Soc Anal Cytol. 2018;93:186–9.

Article  Google Scholar 

Healy ZR, Murdoch DM. OMIP-036: co-inhibitory receptor (immune checkpoint) expression analysis in human T cell subsets. Cytometry A. 2016;89:889–92.

Article  PubMed Central  CAS  PubMed  Google Scholar 

Swanson IIPA, Seder RA. OMIP-067: 28-Color Flow Cytometry Panel to evaluate human T-Cell phenotype and function. Cytometry A. 2020;97:1032–6.

Article  PubMed  Google Scholar 

Alpert A, Pickman Y, Leipold M, Rosenberg-Hasson Y, Ji X, Gaujoux R, et al. A clinically meaningful metric of immune age derived from high-dimensional longitudinal monitoring. Nat Med. 2019;25:487–95.

Article  PubMed Central  CAS  PubMed  Google Scholar 

Palmer BE, Blyveis N, Fontenot AP, Wilson CC. Functional and phenotypic characterization of CD57 + CD4 + T cells and Their Association with HIV-1-Induced T cell Dysfunction1. J Immunol. 2005;175:8415–23.

Article  CAS  PubMed  Google Scholar 

Pedroza-Seres M, Linares M, Voorduin S, Enrique R, Lascurain R, Garfias Y, et al. Pars planitis is associated with an increased frequency of effector‐memory CD57 + T cells. Br J Ophthalmol. 2007;91:1393–8.

Article  PubMed Central  PubMed  Google Scholar 

Mahnke YD, Beddall MH, Roederer M. OMIP-017: human CD4 + helper T-cell subsets including follicular helper cells. Cytom Part J Int Soc Anal Cytol. 2013;83:439–40.

Article  Google Scholar 

Biancotto A, Dagur PK, Fuchs JC, Langweiler M, McCoy JP. OMIP-004: In-Depth Characterization of Human T Regulatory Cells. Cytom Part J Int Soc Anal Cytol. 2012;81:15–6.

Article  Google Scholar 

Liechti T, Roederer M. OMIP-060: 30-Parameter Flow Cytometry Panel to Assess T Cell Effector Functions and Regulatory T Cells. Cytometry A. 2019;95:1129–34.

Article  CAS  PubMed  Google Scholar 

Mahnke YD, Beddall MH, Roederer M. OMIP-015: human regulatory and activated T-cells without intracellular staining. Cytometry A. 2013;83A:179–81.

Article  CAS  Google Scholar 

Murdoch DM, Staats JS, Weinhold KJ. OMIP-006: Phenotypic Subset Analysis of Human T Regulatory Cells (Tregs) via Polychromatic Flow Cytometry. Cytometry. 2012;81:281–3.

Article  PubMed Central  PubMed  Google Scholar 

Park LM, Lannigan J, Jaimes MC. OMIP-069: forty-color full spectrum Flow Cytometry Panel for Deep Immunophenotyping of Major Cell subsets in Human Peripheral blood. Cytometry A. 2020;97:1044–51.

Article  PubMed Central  CAS  PubMed  Google Scholar 

Rakhmanov M, Keller B, Gutenberger S, Foerster C, Hoenig M, Driessen G, et al. Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells. Proc Natl Acad Sci U S A. 2009;106:13451–6.

Article  PubMed Central  CAS  PubMed  Google Scholar 

Golinski M-L, Demeules M, Derambure C, Riou G, Maho-Vaillant M, Boyer O, et al. CD11c+ B cells are mainly memory cells, precursors of antibody secreting cells in healthy donors. Front Immunol. 2020;11:32.

Min Q, Meng X, Zhou Q, Wang Y, Li Y, Lai N, et al. RAG1 splicing mutation causes enhanced B cell differentiation and autoantibody production. JCI Insight. 2021;6(19):e148887.

Szczawińska-Popłonyk A, Grześk E, Schwartzmann E, Materna-Kiryluk A, Małdyk J. Case Report: autoimmune lymphoproliferative syndrome vs. chronic active Epstein-Barr Virus infection in children: a diagnostic challenge. Front Pediatr. 2021;9:798959.

Article  PubMed Central  PubMed  Google Scholar 

Pace R, Vinh DC. Autoimmune lymphoproliferative syndrome and Epstein-Barr Virus-Associated Lymphoma: an adjunctive diagnostic role for monitoring EBV viremia? Case Rep Immunol. 2013;2013:245893.

Google Scholar 

Arkwright PD, Rieux-Laucat F, Le Deist F, Stevens RF, Angus B, Cant AJ. Cytomegalovirus infection in infants with autoimmune lymphoproliferative syndrome (ALPS). Clin Exp Immunol. 2000;121:353–7.

Article  PubMed Central  CAS  PubMed  Google Scholar 

Lisco A, Wong C-S, Price S, Ye P, Niemela J, Anderson M, et al. Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS). Front Immunol. 2019;10:1193.

Article  PubMed Central  CAS  PubMed  Google Scholar 

Chun HJ, Zheng L, Ahmad M, Wang J, Speirs CK, Siegel RM, et al. Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeciency. Nature. 2002;419(6905):395–99.

Crawford SE, Ramani S, Tate JE, Parashar UD, Svensson L, Hagbom M, et al. Rotavirus infection. Nat Rev Dis Primer. 2017;3:1–16.

Article  Google Scholar 

De Francesco MA, Ianiro G, Monini M, Vezzoli C, Schumacher RF, Giliani S, et al. Persistent infection with Rotavirus Vaccine strain in severe combined immunodeficiency (SCID) child: is Rotavirus Vaccination in SCID Children a Janus Face? Vaccines. 2019;7:185.

Article  PubMed Central