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LRBA deficiency: a new genetic cause of monogenic lupus
  1. Bernadete L Liphaus1,
  2. Iris Caramalho2,
  3. Andreia Rangel-Santos1,
  4. Clóvis A Silva1,
  5. Jocelyne Demengeot2,
  6. Magda Maria Salles Carneiro-Sampaio3
  1. 1 Pediatrics, Children's Hospital, São Paulo, Brazil
  2. 2 Instituto Gulbenkian de Ciência, Oeiras, Portugal
  3. 3 Department of Pediatrics, Universidade de Sao Paulo, Sao Paulo, Brazil
  1. Correspondence to Dr Bernadete L Liphaus, Pediatrics, Children's Hospital, São Paulo 05403-900, Brazil; bernadete.liphaus{at}

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Juvenile systemic lupus erythematosus (JSLE) is considered a polygenic disease, although identified causes of monogenic SLE and lupus-like syndrome are enlarging.1 2 The genetic basis of polyautoimmune syndromes is also being elucidated, now including lipopolysaccharide-responsive beige-like anchor (LRBA) deficiencies.3 We report a patient carrying a new deleterious LRBA mutation that associates with JSLE .

The patient, a girl born from healthy consanguineous parents, presented recurrent respiratory infections since 1 year of age, and since 7 years of age, chronic non-bloody diarrhoea diagnosed as non-specific colitis, IgA deficiency (<1.0 mg/dL) and arthralgia. At 10 years of age, laboratory tests revealed normal C1q, C2, C3, C4, CH50 and lymphocyte counts, homogeneous antinuclear antibody (ANA; HEp-2 1/640) and negative anti-dsDNA. Six months later, she presented respiratory distress, acute diarrhoea, pericardial effusion, serum glucose of 724 mg/dL, positive anti-IAA (42 IU/mL), and type 1 diabetes (T1D) was diagnosed. When 11 years of age, she clearly fulfilled the American College of Rheumatology 1997 SLE classification criteria by presenting polyarthritis, pericarditis, autoimmune haemolytic anaemia, alopecia, persistent malar rash, homogeneous ANA (1/1280), positive anti-dsDNA (119 IU/mL, ELISA, confirmed by Crithidia luciliae), anticardiolipin IgG, anti-thyroglobulin and anti-thyroid peroxidase. Prednisone and …

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  • Handling editor Josef S Smolen

  • Contributors BLL contributed to study conception, design and intellectual content, to data interpretation and wrote manuscript. IC analysed data and contributed to study intellectual content and manuscript writing. ARS contributed to data acquisition, data interpretation and manuscript writing. CAS critically revised manuscript. JD analysed data and contributed to study intellectual content and manuscript writing. MMSC-S critically revised manuscript.

  • Funding São Paulo Research Foundation (FAPESP - grants 2008/58238-4, 2012/22997-4, 2014/14880-5 and 2014/50489-9) and Fundação para a Ciência e a Tecnologia, Portugal (Postdoctoral fellowship SFRH / BPD / 111454 / 2015).

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

  • Ethics approval CAPPesq ethical committee Nº 1085/09 and 195.419.

  • Provenance and peer review Not commissioned; externally peer reviewed.