{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T21:39:26Z","timestamp":1793137166908,"version":"4.5.0"},"reference-count":23,"publisher":"American Academy of Pediatrics (AAP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,11,1]]},"abstract":"<jats:p>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\u2013mediated immunity. DOCK8 mutations are the second most common cause of hyper\u2013immunoglobulin 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.<\/jats:p>","DOI":"10.1542\/peds.2013-1383","type":"journal-article","created":{"date-parts":[[2014,10,21]],"date-time":"2014-10-21T05:09:45Z","timestamp":1413868185000},"page":"e1458-e1463","source":"Crossref","is-referenced-by-count":24,"title":["Ten-Year Follow-Up of a DOCK8-Deficient Child With Features of Systemic Lupus Erythematosus"],"prefix":"10.1542","volume":"134","author":[{"given":"Zineb","family":"Jouhadi","sequence":"first","affiliation":[{"name":"Pediatric Infectious Diseases and Clinical Immunology Department, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khadija","family":"Khadir","sequence":"additional","affiliation":[{"name":"Departments of Dermatology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Ailal","sequence":"additional","affiliation":[{"name":"Pediatric Infectious Diseases and Clinical Immunology Department, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenza","family":"Bouayad","sequence":"additional","affiliation":[{"name":"Pediatric Rheumatology, Ibn Rochd Hospital, Medical School, University Hassan II, Casablanca, Morocco;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sellama","family":"Nadifi","sequence":"additional","affiliation":[{"name":"Department of Genetics, Medical School, University Hassan II, Casablanca, Morocco; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin R.","family":"Engelhardt","sequence":"additional","affiliation":[{"name":"Centre of Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bodo","family":"Grimbacher","sequence":"additional","affiliation":[{"name":"Centre of Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2014,11,1]]},"reference":[{"issue":"1","key":"2021121110254640100_B1","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1542\/peds.49.1.59","article-title":"Extreme hyperimmunoglobulinemia E and undue susceptibility to infection.","volume":"49","author":"Buckley","year":"1972","journal-title":"Pediatrics"},{"issue":"16","key":"2021121110254640100_B2","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1056\/NEJMoa073687","article-title":"STAT3 mutations in the hyper-IgE syndrome.","volume":"357","author":"Holland","year":"2007","journal-title":"N Engl J Med"},{"issue":"4","key":"2021121110254640100_B3","first-page":"268","article-title":"Molluscum contagiosum and Job\u2019s syndrome.","volume":"47","author":"Martins","year":"2001","journal-title":"J Postgrad Med"},{"issue":"1","key":"2021121110254640100_B4","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S0022-3476(03)00449-9","article-title":"Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity.","volume":"144","author":"Renner","year":"2004","journal-title":"J Pediatr"},{"issue":"21","key":"2021121110254640100_B5","doi-asserted-by":"crossref","first-page":"2046","DOI":"10.1056\/NEJMoa0905506","article-title":"Combined immunodeficiency associated with DOCK8 mutations.","volume":"361","author":"Zhang","year":"2009","journal-title":"N Engl J Med"},{"issue":"6","key":"2021121110254640100_B6","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1016\/j.jaci.2009.10.038","article-title":"Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome","volume":"124","author":"Engelhardt","year":"2009","journal-title":"J Allergy Clin Immunol"},{"issue":"3\u20134","key":"2021121110254640100_B7","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1155\/2010\/580197","article-title":"Clinical manifestations of hyper IgE syndromes.","volume":"29","author":"Freeman","year":"2010","journal-title":"Dis Markers"},{"key":"2021121110254640100_B8","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1111\/j.1749-6632.2011.06295.x","article-title":"DOCK8 deficiency.","volume":"1246","author":"Su","year":"2011","journal-title":"Ann N Y Acad Sci"},{"issue":"5","key":"2021121110254640100_B9","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1007\/s11882-008-0075-x","article-title":"Genetic origins of hyper-IgE syndrome.","volume":"8","author":"Minegishi","year":"2008","journal-title":"Curr Allergy Asthma Rep"},{"issue":"1","key":"2021121110254640100_B10","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1007\/s12016-009-8134-1","article-title":"Pathogenesis of hyper Ig E syndrome.","volume":"38","author":"Heimall","year":"2010","journal-title":"Clin Rev Allergy Immunol"},{"issue":"11","key":"2021121110254640100_B11","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1016\/j.arcped.2012.08.017","article-title":"[Usefulness of topical cidofovir treatment for recalcitrant molluscum contagiosum in immunocompromised children]","volume":"19","author":"Gu\u00e9rin","year":"2012","journal-title":"Arch Pediatr"},{"issue":"7","key":"2021121110254640100_B12","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1038\/ni0710-644a","article-title":"DOCK8 mutations cripple B cell immune synapse, germinal centers and long-lived antibody production.","volume":"11","author":"Randall","year":"2010","journal-title":"Nat Immunol"},{"issue":"1","key":"2021121110254640100_B13","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.clim.2013.06.002","article-title":"Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis.","volume":"149","author":"aan de Kerk","year":"2013","journal-title":"Clin Immunol"},{"issue":"6391","key":"2021121110254640100_B14","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1136\/bmj.287.6391.524","article-title":"Systemic lupus erythematosus in Staphylococcus aureus hyperimmunoglobulinaemia E syndrome.","volume":"287","author":"Schopfer","year":"1983","journal-title":"Br Med J (Clin Res Ed)"},{"issue":"2","key":"2021121110254640100_B15","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1093\/rheumatology\/36.2.297","article-title":"Systemic lupus erythematosus complicating hyper IgE syndrome.","volume":"36","author":"North","year":"1997","journal-title":"Br J Rheumatol"},{"issue":"7","key":"2021121110254640100_B16","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1093\/rheumatology\/37.7.807b","article-title":"Discordance for systemic lupus erythematosus and hyper IgE syndrome in a pair of monozygotic twins.","volume":"37","author":"Brugnoni","year":"1998","journal-title":"Br J Rheumatol"},{"issue":"8","key":"2021121110254640100_B17","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1007\/s00467-006-0178-3","article-title":"Hyper\u2013Ig E syndrome and autoimmunity in Mexican children.","volume":"21","author":"Yamazaki-Nakashimada","year":"2006","journal-title":"Pediatr Nephrol"},{"issue":"9","key":"2021121110254640100_B18","first-page":"611","article-title":"Systemic lupus erythematosus and hyper-IgE syndrome in a 13-year-old child [in German]","volume":"61","author":"Leyh","year":"1986","journal-title":"Z Hautkr"},{"issue":"6","key":"2021121110254640100_B19","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1055\/s-0030-1265135","article-title":"Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation.","volume":"222","author":"Bittner","year":"2010","journal-title":"Klin Padiatr"},{"issue":"4","key":"2021121110254640100_B20","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1007\/s10875-012-9664-5","article-title":"Additional diverse findings expand the clinical presentation of DOCK8 deficiency.","volume":"32","author":"Sanal","year":"2012","journal-title":"J Clin Immunol"},{"issue":"4","key":"2021121110254640100_B21","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1038\/bmt.2010.169","article-title":"Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation.","volume":"46","author":"Gatz","year":"2011","journal-title":"Bone Marrow Transplant"},{"issue":"2","key":"2021121110254640100_B22","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1016\/j.jaci.2011.03.025","article-title":"Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency.","volume":"128","author":"Barlogis","year":"2011","journal-title":"J Allergy Clin Immunol"},{"key":"2021121110254640100_B23","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1182\/asheducation-2011.1.280","article-title":"Successes and failures of stem cell transplantation in autoimmune diseases.","volume":"2011","author":"Tyndall","year":"2011","journal-title":"Hematology (Am Soc Hematol Educ Program)"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/134\/5\/e1458\/913773\/peds_2013-1383.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/134\/5\/e1458\/913773\/peds_2013-1383.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T10:26:12Z","timestamp":1639218372000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/134\/5\/e1458\/75958\/Ten-Year-Follow-Up-of-a-DOCK8-Deficient-Child-With"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11,1]]},"references-count":23,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2014,11,1]]},"published-print":{"date-parts":[[2014,11,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2013-1383","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11,1]]}}}