{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T20:44:54Z","timestamp":1792097094894,"version":"4.4.0"},"reference-count":11,"publisher":"American Academy of Pediatrics (AAP)","issue":"Supplement_5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,4,1]]},"abstract":"<jats:p>We report on 4 children who presented with aseptic panniculitis associated with inherited immunodeficiency. Three patients had a B-cell immunodeficiency resulting from mutations in the TRNT1 and NF-\u03bab2 genes (no mutation was found in the third patient), and 1 had a T-cell deficiency (mutation in the LCK gene). Panniculitis occurred before the age of 2 years in the 4 patients and preceded the onset of recurrent infections because of immunodeficiency in 2. It presented either as nodules, which resolved spontaneously within 1 to 2 weeks (3 patients), or chronic ulcerative lesions (1 patient) associated with unexplained fever and elevated acute phase reactants, without evidence of infection or high-titer autoantibodies. Febrile nodules relapsed in 2 patients, and recurrent attacks of unexplained fever (without relapse of panniculitis) occurred in the third. Skin biopsy revealed predominantly lympho-histiocytic or septal neutrophilic panniculitis in 1 and 3 patients, respectively. Panniculitis was associated with dermal involvement in the 4 patients. Patients with B-cell deficiency received monthly intravenous immunoglobulin replacement. Two patients who underwent bone marrow transplant died of bone marrow transplant-related complications. The 2 remaining patients had persistent, mild autoinflammatory disease, which did not require specific treatment. In these cases, the need for careful immunologic evaluation of patients who present with unexplained panniculitis, especially early-onset panniculitis before the age of 2 years, is highlighted.<\/jats:p>","DOI":"10.1542\/peds.2017-0213","type":"journal-article","created":{"date-parts":[[2018,4,2]],"date-time":"2018-04-02T08:35:25Z","timestamp":1522658125000},"page":"S496-S500","source":"Crossref","is-referenced-by-count":30,"title":["Inherited Immunodeficiency: A New Association With Early-Onset Childhood Panniculitis"],"prefix":"10.1542","volume":"141","author":[{"given":"Brigitte","family":"Bader-Meunier","sequence":"first","affiliation":[{"name":"D\u00e9partements d'Immunologie, H\u00e9matologie, et Rhumatologie P\u00e9diatrique,"},{"name":"Institut Imagine, INSERM U1163;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Rieux-Laucat","sequence":"additional","affiliation":[{"name":"Institut Imagine, INSERM U1163;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabien","family":"Touzot","sequence":"additional","affiliation":[{"name":"D\u00e9partement d\u2019Immunologie et Rhumatologie P\u00e9diatrique, Centre Hospitalier Universitaire Sainte-Justine, Universit\u00e9 de Montr\u00e9al, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Louise","family":"Fr\u00e9mond","sequence":"additional","affiliation":[{"name":"D\u00e9partements d'Immunologie, H\u00e9matologie, et Rhumatologie P\u00e9diatrique,"},{"name":"Institut Imagine, INSERM U1163;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Andr\u00e9-Schmutz","sequence":"additional","affiliation":[{"name":"Institut Imagine, INSERM U1163;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Fraitag","sequence":"additional","affiliation":[{"name":"d'Anatomie Pathologique, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Bodemer","sequence":"additional","affiliation":[{"name":"Institut Imagine, INSERM U1163;"},{"name":"de Dermatologie P\u00e9diatrique, H\u00f4pital Necker-Enfants Malades, Assistance Publique-H\u00f4pitaux de Paris, Paris, France;"},{"name":"Universit\u00e9 Paris Descartes, Sorbonne Cit\u00e9, Paris, France; and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2018,4,1]]},"reference":[{"issue":"4","key":"2021121011394714600_B1","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1016\/j.det.2008.05.010","article-title":"Panniculitis in children.","volume":"26","author":"Torrelo","year":"2008","journal-title":"Dermatol Clin"},{"issue":"4","key":"2021121011394714600_B2","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1111\/j.1529-8019.2010.01336.x","article-title":"Panniculitis in childhood.","volume":"23","author":"Polcari","year":"2010","journal-title":"Dermatol Ther"},{"issue":"6","key":"2021121011394714600_B3","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1182\/blood-2013-07-515528","article-title":"GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.","volume":"123","author":"Spinner","year":"2014","journal-title":"Blood"},{"issue":"10","key":"2021121011394714600_B4","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1056\/NEJMoa1307361","article-title":"Early-onset stroke and vasculopathy associated with mutations in ADA2.","volume":"370","author":"Zhou","year":"2014","journal-title":"N Engl J Med"},{"issue":"3","key":"2021121011394714600_B5","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1002\/art.33368","article-title":"Mutations in proteasome subunit \u03b2 type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.","volume":"64","author":"Liu","year":"2012","journal-title":"Arthritis Rheum"},{"issue":"2","key":"2021121011394714600_B6","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1001\/jamadermatol.2013.6095","article-title":"Neutrophilic lobular panniculitis as an expression of a widened spectrum of familial Mediterranean fever.","volume":"150","author":"Leiva-Salinas","year":"2014","journal-title":"JAMA Dermatol"},{"issue":"36","key":"2021121011394714600_B7","doi-asserted-by":"crossref","first-page":"10127","DOI":"10.1073\/pnas.1612594113","article-title":"Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.","volume":"113","author":"Zhou","year":"2016","journal-title":"Proc Natl Acad Sci USA"},{"issue":"6","key":"2021121011394714600_B8","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1016\/j.jpeds.2007.08.005","article-title":"Infantile onset panniculitis with uveitis and systemic granulomatosis: a new clinicopathologic entity.","volume":"151","author":"Wouters","year":"2007","journal-title":"J Pediatr"},{"issue":"5","key":"2021121011394714600_B9","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1016\/j.jaci.2012.07.029","article-title":"Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency.","volume":"130","author":"Hauck","year":"2012","journal-title":"J Allergy Clin Immunol"},{"issue":"18","key":"2021121011394714600_B10","doi-asserted-by":"crossref","first-page":"2867","DOI":"10.1182\/blood-2014-08-591370","article-title":"Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).","volume":"124","author":"Chakraborty","year":"2014","journal-title":"Blood"},{"issue":"40","key":"2021121011394714600_B11","doi-asserted-by":"crossref","first-page":"e5081","DOI":"10.1097\/MD.0000000000005081","article-title":"NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: a case report and review of literature.","volume":"95","author":"Shi","year":"2016","journal-title":"Medicine (Baltimore)"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/141\/Supplement_5\/S496\/886792\/peds_20170213.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/141\/Supplement_5\/S496\/886792\/peds_20170213.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T00:23:41Z","timestamp":1639182221000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/141\/Supplement_5\/S496\/34491\/Inherited-Immunodeficiency-A-New-Association-With"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4,1]]},"references-count":11,"journal-issue":{"issue":"Supplement_5","published-online":{"date-parts":[[2018,4,1]]},"published-print":{"date-parts":[[2018,4,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2017-0213","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,4,1]]}}}