Document Detail

Ten-Year Follow-Up of a DOCK8-Deficient Child With Features of Systemic Lupus Erythematosus.
MedLine Citation:
PMID:  25332498     Owner:  NLM     Status:  Publisher    
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.
Zineb Jouhadi; Khadija Khadir; Fatima Ailal; Kenza Bouayad; Sellama Nadifi; Karin R Engelhardt; Bodo Grimbacher
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-10-20
Journal Detail:
Title:  Pediatrics     Volume:  -     ISSN:  1098-4275     ISO Abbreviation:  Pediatrics     Publication Date:  2014 Oct 
Date Detail:
Created Date:  2014-10-21     Completed Date:  -     Revised Date:  2014-10-22    
Medline Journal Info:
Nlm Unique ID:  0376422     Medline TA:  Pediatrics     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2014 by the American Academy of Pediatrics.
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