Refractory Autoimmune Cytopenia in a Young Boy with a Novel LRBA Mutation Successfully Managed with Sirolimus
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LETTER TO EDITOR
Refractory Autoimmune Cytopenia in a Young Boy with a Novel LRBA Mutation Successfully Managed with Sirolimus Aaqib Zaffar Banday 1 & Ankur Kumar Jindal 1 & Rahul Tyagi 1 & Shagun Singh 1 & Pratap Kumar Patra 1 & Yashwant Kumar 2 & Deepti Suri 1 & Amit Rawat 1 Received: 22 March 2020 / Accepted: 20 July 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
To the editor: Amongst the various clinical manifestations due to immune dysregulation in lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency, several patients with enteropathy or inflammatory bowel disease have responded well to sirolimus therapy [1–4]. Data specifically assessing its efficacy for the treatment of autoimmune cytopenia in LRBA deficiency, especially treatment-refractory or potentially fatal forms, are still very scarce. As a corollary, sirolimus may be efficacious for the management of refractory autoimmune cytopenia in LRBA deficiency as well. We describe one such case to this effect. A 9-year-old boy presented with history of recurrent diarrhea and anemia requiring multiple blood transfusions. On examination, he had pallor, hepatosplenomegaly, severe wasting, and stunting. The rest of the examination was unremarkable. Laboratory investigations revealed anemia, direct Coombs test (DCT) positivity (anti-C3d), features of autoimmune hemolytic anemia (AIHA), and no evidence of infections (Supplementary Table 1). He was also noted to have low IgA, IgG2, and IgG4; low B cells; and reduced switched memory B cells (Supplementary Tables 2 and 3). Upper gastrointestinal endoscopy and biopsy revealed subtotal duodenal villous atrophy and chronic superficial antral gastritis. A clinical Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10875-020-00835-1) contains supplementary material, which is available to authorized users. * Ankur Kumar Jindal [email protected] 1
Allergy Immunology Unit, Department of Pediatrics, Advances Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh 160012, India
2
Department of Immunopathology, Research Block-A, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
possibility of common variable immunodeficiency (CVID) with AIHA was considered. Replacement intravenous immunoglobulin (IVIg) therapy (400 mg/kg/month) and cotrimoxazole prophylaxis (5 mg/kg/day of the trimethoprim component) were initiated along with iron, folic acid, and vitamin B12 supplementation. He showed some clinical improvement in diarrhea and anemia. After 6 months of follow-up, he had to be initiated on oral prednisolone (1 mg/kg/day) in view of falling hemoglobin and DCT positivity (both IgG and C3d). He showed an initial clinical improvement; however, he subsequently developed neutropenia (0.079 × 109/L), lymphopenia (0.504 × 109/L), and thrombocytopenia (29 × 109/L) (supplementary Table 4). Bone marrow examination showed hypercellular marrow with increased myeloi
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