Pediatrics. 2014 Nov;134(5):e1458-63. doi: 10.1542/peds.2013-1383.

Ten-year follow-up of a DOCK8-deficient child with features of systemic lupus erythematosus.

 

Jouhadi Z1, Khadir K2, Ailal F3, Bouayad K4, Nadifi S5, Engelhardt KR6, Grimbacher B6.
  • 1Pediatric Infectious Diseases and Clinical Immunology Department, and jouhadi@lycos.com.
  • 2Departments of Dermatology and.
  • 3Pediatric Infectious Diseases and Clinical Immunology Department, and.
  • 4Pediatric Rheumatology, Ibn Rochd Hospital, Medical School, University Hassan II, Casablanca, Morocco;
  • 5Department of Genetics, Medical School, University Hassan II, Casablanca, Morocco; and.
  • 6Centre of Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, Germany.

 

Abstract

Dedicator of cytokinesis 8 (DOCK8) deficiency is an innate error of adaptive immunity characterized by recurrent infections with viruses, bacteria, and fungi, typically high serum levels of immunoglobulin E, eosinophilia, and a progressive deterioration of T- and B-cell-mediated immunity. DOCK8 mutations are the second most common cause of hyper-immunoglobulin E syndromes (HIES). We report a case of DOCK8 deficiency associated with systemic lupus erythematosus (SLE). Association of SLE with HIES is very rare; to our knowledge, this is the sixth such case reported in the literature. A 10-year-old girl of consanguineous parents was followed in our clinic because of HIES since early childhood. She developed SLE with purpuric and necrotic skin lesions, diffuse arthritis, and glomerulonephritis. These autoimmune features were corroborated by the presence of antinuclear, anti-DNA, and antiphospholipid antibodies. The combination of HIES and autoimmunity makes treatment difficult, because the use of immunosuppressive drugs needed for SLE may worsen existing symptoms caused by the immunodeficiency. Our observation is the first case of association of SLE with HIES in the literature where the primary immune disease is genetically documented and labeled as DOCK8 deficiency.

KEYWORDS: AR-HIES; DOCK8 deficiency; antiphospholipid syndrome; hyper-IgE syndrome; pediatric; recurrent parotitis; systemic lupus erythematosus

PMID: 25332498

 

 

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