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AZB: Writing of initial draft of the manuscript, editing, and revision of manuscript at all stages of its production, review of literature, and drawing of figures.
AKJ: Inception of the idea, evaluation, management, and follow up of the patient and editing of the manuscript, critical revision of the manuscript at all stages of production, and final approval.
RT: Contributed to the editing of the manuscript, performed genetic analysis of the patient, and review of the literature.
SS/PKP: Evaluation and management of the patient, follow up of the patient, editing, and approval of the manuscript.
YK/DS: Contributed to immunology workup, review, and editing of the manuscript.
AR: Contributed to the editing of the manuscript, performed genetic analysis and laboratory evaluation of the patient, revision of the manuscript, and final approval of the manuscript.
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As this manuscript pertains only to a case report and analysis of data from previously reported patients published in the literature, specific ethics approval is not mandated.
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Supplementary Table 1
Baseline laboratory investigations, infectious disease, and autoimmune workup in the index patient at the time of initial presentation (DOCX 19 kb)
Supplementary Table 2
Immunologic work-up of the index patient at the time of initial presentation (DOCX 18 kb)
Supplementary Table 3
Immunologic work-up of the index child on follow-up (most investigations were carried out at 6 months of follow-up unless specified in the table) (DOCX 19 kb)
Supplementary Table 4
Serial complete blood counts of the index patient on follow-up, Note: The top row in the Table denotes follow-up duration (DOCX 18 kb)
Supplementary Fig. 1
Representative electropherograms of compound heterozygote variants in LRBA gene. Chromatogram of Patient (A) and Mother (B) showing heterozygous deletion of CT bases in the exon 51 of LRBA gene at c.7556_7557 position resulting in proline to arginine change at 2519 residues, leading to frameshift termination 23 amino acid residues downstream. Chromatogram of Father (C) showed a wildtype genotype on this location. Another heterozygous splice site variant (c.1014+2T>C) was detected in intron 8 of LRBA gene in the same patient (D) and his father (F). Chromatogram of Mother (E) showed a wildtype genotype at this location (PNG 133 kb)
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Banday, A.Z., Jindal, A.K., Tyagi, R. et al. Refractory Autoimmune Cytopenia in a Young Boy with a Novel LRBA Mutation Successfully Managed with Sirolimus. J Clin Immunol 40, 1184–1186 (2020). https://doi.org/10.1007/s10875-020-00835-1
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DOI: https://doi.org/10.1007/s10875-020-00835-1