Multiple Presentations of LRBA Deficiency: a Single-Center Experience

Bal, Sevgi Köstel; Haskoloğlu, Şule; Serwas, Nina K.; İslamoğlu, Candan; Aytekin, Caner; Kendirli, Tanıl; Kuloğlu, Zarife; Yavuz, Gülsan; Dalgıç, Buket; Şıklar, Zeynep; Kansu, Aydan; Ensarı, Arzu; Boztuğ, Kaan; Doğu, Figen; İkincioğulları, Aydan

doi:10.1007/s10875-017-0446-y

Cited by 63 publications

(54 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although the patient we report developed over the years a multisystemic disease, the main phenotype was chronic intermittent diarrhea, initially thought to be linked to celiac disease. Diarrhea in patients with LRBA deficiency is common (40,43). Some of these subjects can present with enteropathy (43), as commonly seen in patients with CVID.…”

Section: Discussionmentioning

confidence: 99%

Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis

Vardi¹,

Chermesh²,

Werner³

et al. 2020

Front. Immunol.

View full text Add to dashboard Cite

and interleukin (IL)-10 secretion. Finally, we show marked oligoclonal expansion of specific Band T-cell clones in the peripheral blood of the LRBA-deficient patient. Conclusions: LRBA deficiency is characterized by marked immunological changes in innate and adaptive immune cells. This case highlights the importance of advanced genetic studies in patients with a unique phenotype, regardless of their age at presentation.

show abstract

Section: Discussionmentioning

confidence: 99%

Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis

Vardi¹,

Chermesh²,

Werner³

et al. 2020

Front. Immunol.

View full text Add to dashboard Cite

show abstract

“…LRBA deficiency was reported to have a broad and variable clinical phenotype, mainly including hypogam- maglobulinemia, recurrent infection, autoimmune disorders, organomegaly and chronic diarrhea. Other clinical features included allergy and asthma, growth retardation, neurologic disease, and so on (2,3,5,8). In a recent re-view including 32 LRBA deficient patients worldwide, 61% patients were reported to suffer from chronic diarrhea, autoimmune diseases, organomegaly and respiratory infections, and 58% patients from hypogammaglobulinemia (2).…”

Section: Discussionmentioning

confidence: 99%

“…LPS-responsive beige-like anchor protein (LRBA) deficiency is a rare inherited common variable immunodeficiency (CVID) caused by loss-of-function mutations in LRBA gene. Affected individuals were usually reported to suffer from immune deficiency, lymphoproliferation and various organ-specific autoimmunity, which severely affected the patients' physical health and imposes a heavy economic burden on the patients (1)(2)(3)(4)(5).…”

Section: Introductionmentioning

confidence: 99%

Systemic Vasculitis and High IgE Level in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency

Wang

Chen

et al. 2019

Iran J Pediatr

View full text Add to dashboard Cite

Background: Mutations in LPS-responsive and beige-like anchor (LRBA) gene in patients were firstly described to associate with a syndrome of immune deficiency and autoimmunity in 2012. However, there was still no LRBA deficient patient reported in China. Objectives: We present a Chinese patient with heterozygous LRBA gene mutations with his clinical, immunological and genetic features. Methods: Patient's clinical data was collected and analyzed. Laboratory results included lymphocyte subsets analysis and immunoglobulin quantification. Targeted gene capture followed by next-generation sequencing was used to identify the gene mutations, and flow cytometry assay was used to analyze B cell immunophenotyping of this patient. Results: The patient mainly suffered from recurrent respiratory tract infections, EBV-associated lymphoproliferative disease and systemic vasculitis. Heterozygous LRBA gene mutations were identified in the patient, which were inherited from his parents, respectively. B cell immunophenotyping revealed that he had decreased total B cells, bone marrow progenitor B cell subsets (HSC, CLP, Pro-B and Pre-B cells), immature B cells, non-switched memory B cells, switched memory B cells and B1 cell subsets. Besides, he had extremely high level of IgE. Conclusions: Herein, we firstly report a patient with heterozygous LRBA gene mutations in China. LRBA might play an important role in B cell development.

show abstract

“…Systemic corticosteroids, cyclosporine and mycophenolate mofetil were partially effective but could not prevent disease progression and emergence of new autoimmune findings. They used abatacept in two patients: one with GLILD responded well; the other with resistant ITP and enteropathy had no response and died due to intracranial haemorrhage [ 6 ].…”

Section: Discussionmentioning

confidence: 99%

Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome

et al. 2018

View full text Add to dashboard Cite

IntroductionLPS-responsive beige-like anchor (LRBA) protein deficiency is a disease of immune dysregulation with autoimmunity affecting various systems.Case PresentationTwo male siblings with a novel LRBA mutation had different primary findings at admission: the younger sibling had chronic early-onset diarrhoea and the elder one had autoimmune haemolytic anaemia. During long-term follow-up for IPEX phenotype, both developed hypogammaglobulinaemia, enteropathy and lung involvement. The patients partially responded to immunosuppressive therapies. A homozygous c.2496C>A, p.Cys832Ter (p.C832*) mutation in the LRBA gene causing a premature stop codon was detected. After molecular diagnosis, abatacept, as a target-specific molecule, was used with promising results.ConclusionLRBA deficiency is a recently defined defect, with variable presentations in different patients; a single, definitive treatment option is thus not yet available.

show abstract

Multiple Presentations of LRBA Deficiency: a Single-Center Experience

Abstract: LRBA defects should always be kept in mind as a differential diagnosis for patients with autoimmune disease affecting multiple organs, chronic diarrhea, and organomegalies. In our experience, early HSCT is a life-saving therapeutic strategy.

Cited by 63 publications

References 20 publications

Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis

Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis

Systemic Vasculitis and High IgE Level in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency

Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome

Contact Info

Product

Resources

About