Refractory Autoimmune Cytopenia in a Young Boy with a Novel LRBA Mutation Successfully Managed with Sirolimus

Banday, Aaqib Zaffar; Jindal, Ankur Kumar; Tyagi, Rahul; Singh, Shagun; Patra, Pratap Kumar; Kumar, Yashwant; Suri, Deepti; Rawat, Amit

doi:10.1007/s10875-020-00835-1

Cited by 7 publications

(6 citation statements)

References 10 publications

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“…7 Sirolimus is increasingly used in the treatment of autoimmune cytopenia in other primary immunodeficiency diseases. 9,10 It is also effective in patients with relapsed or refractory autoimmune cytopenia. 11 Here, we report a patient with KS who was diagnosed with autoimmune cytopenia refractory to the first-line therapy.…”

mentioning

confidence: 99%

Autoimmune cytopenia in a Korean pediatric patient with Kabuki syndrome treated with sirolimus

Kim

Shim

Kim

et al. 2023

Pediatric Blood & Cancer

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mentioning

confidence: 99%

Autoimmune cytopenia in a Korean pediatric patient with Kabuki syndrome treated with sirolimus

Kim

Shim

Kim

et al. 2023

Pediatric Blood & Cancer

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“…No etiological treatment is available, but prophylactic antibacterial therapy and immunoglobulin replacement should be given, similarly to all primary immunodeficiencies. Despite all the currently available therapies for immunodeficiency, the control of the autoimmune mechanisms has been achieved only in patients treated with large doses of corticosteroids [ 3 , 23 , 24 , 25 ]. Treatment with sirolimus for inflammatory and autoimmune disorder has been reported as well [ 23 ].…”

Section: Discussionmentioning

confidence: 99%

Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA

Galati

Muciaccia

Marucci

et al. 2022

IJERPH

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We describe early-onset diabetes in a 6-month-old patient carrying an LRBA gene mutation. Mutations in this gene cause primary immunodeficiency with autoimmune disorders in infancy. At admission, he was in diabetic ketoacidosis, and treatment with fluid infusion rehydration and then i.v. insulin was required. He was discharged with a hybrid closed-loop system for insulin infusion and prevention of hypoglycemia (Minimed Medtronic 670G). He underwent a next-generation sequencing analysis for monogenic diabetes genes, which showed that he was compound heterozygous for two mutations in the LRBA gene. In the following months, he developed arthritis of hands and feet, chronic diarrhea, and growth failure. He underwent bone marrow transplantation with remission of diarrhea and arthritis, but not of diabetes and growth failure. The blood glucose control has always been at target (last HbA1c 6%) without any severe hypoglycemia. LRBA gene mutations are a very rare cause of autoimmune diabetes. This report describes the clinical course in a very young patient. The hybrid closed-loop system was safe and efficient in the management of blood glucose. This report describes the clinical course of diabetes in a patient with a novel LRBA gene mutation.

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“…The currently available immunomodulatory therapies include corticosteroids, cyclosporine, mycophenolate mofetil, azathioprine, and rituximab. However, remission is achieved in only a subset of patients; large doses of steroids are often required to control active autoimmunity (6)(7)(8)(9). Therapeutic approach by sirolimus for treatment of inflammatory and autoimmune disorder, and enteropathy in patients with LRBA deficiency was reported (7).…”

Section: Discussionmentioning

confidence: 99%

“…To date, various agents have been used to treat LRBA deficiency, including corticosteroids, intravenous immunoglobulins, sirolimus, infliximab, rituximab, and azathioprine (6)(7)(8)(9). Some patients also benefit from hematopoietic stem cell transplantation (HSCT), which can be curative (6,9).…”

Section: Introductionmentioning

confidence: 99%

Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants

et al. 2021

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Lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency is a subtype of common variable immune deficiency (CVID). Numerous case reports and cohort studies have described a broad spectrum of clinical manifestations and variable disease phenotypes, including immune dysregulation, enteropathy, and recurrent infections. Although LRBA deficiency is an autosomal recessive primary immunodeficiency resulting in a phenotype similar to CVID, it is a monogenic disease and separate from CVID. Recently, in a report of monogenic primary immunodeficiency disorder associated with CVID and autoimmunity, the most common mutated gene was LRBA. We report the case of a girl who presented with fulminant type 1 diabetes at age 7 months. She later experienced recurrent bacterial infections with neutropenia and idiopathic thrombocytopenic purpura. Clinical genome sequencing revealed compound heterozygosity of the LRBA gene, which bore two novel mutations. A genetic basis should be considered in the differential diagnosis for very young patients with fulminant autoimmunity, and the diagnostic work-up should include evaluation of markers of immunodeficiency.

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Refractory Autoimmune Cytopenia in a Young Boy with a Novel LRBA Mutation Successfully Managed with Sirolimus

Cited by 7 publications

References 10 publications

Autoimmune cytopenia in a Korean pediatric patient with Kabuki syndrome treated with sirolimus

Autoimmune cytopenia in a Korean pediatric patient with Kabuki syndrome treated with sirolimus

Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA

Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants

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