{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:54:27Z","timestamp":1791291267723,"version":"4.3.0"},"reference-count":16,"publisher":"American Academy of Pediatrics (AAP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2002,6,1]]},"abstract":"<jats:p>A child with X-linked osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency (OL-EDA-ID) was recently reported. We report the clinical features of a second boy with this novel syndrome and his mother, who presented with signs of incontinentia pigmenti (IP). The child had mild osteopetrosis without neurosensory complications, unilateral lymphedema of the left leg, and characteristic features of anhidrotic ectodermal dysplasia with sparse hair, facial dysmorphy, delayed eruption of teeth, and sweat gland abnormalities. He died at 18 months of severe immunodeficiency with multiple infections caused by Gram-negative (Salmonella enteritidis) and Gram-positive (Streptococcus pneumoniae) bacteria, nontuberculous mycobacteria (Mycobacterium kansasii), and fungi (Pneumocystis carinii). His 30-year-old mother\u2019s medical history, together with residual cutaneous lesions, was highly suggestive of IP without neurologic impairment. In this patient with OL-EDA-ID, we detected the same NF-\u03baB essential modulator stop codon hypomorphic mutation identified in the previous patient. The occurrence of the same clinical features in 2 unrelated patients with the same genotype demonstrates that OL-EDA-ID is a genuine clinical syndrome. The clinical and biological descriptions of the proband and his mother further corroborate the relationship between IP and EDA. Both syndromes are allelic and are associated with mutations in NF-\u03baB essential modulator, with a genotype-phenotype correlation in hemizygous males. In contrast, loss-of-function mutations and hypomorphic mutations may cause IP in females.<\/jats:p>","DOI":"10.1542\/peds.109.6.e97","type":"journal-article","created":{"date-parts":[[2004,8,13]],"date-time":"2004-08-13T20:17:55Z","timestamp":1092428275000},"page":"e97-e97","source":"Crossref","is-referenced-by-count":124,"title":["Osteopetrosis, Lymphedema, Anhidrotic Ectodermal Dysplasia, and Immunodeficiency in a Boy and Incontinentia Pigmenti in His Mother"],"prefix":"10.1542","volume":"109","author":[{"given":"Sophie","family":"Dupuis-Girod","sequence":"first","affiliation":[{"name":"Unite\u0301 d\u2019Immunologie et d\u2019He\u0301 matologie pe\u0301diatriques, Ho\u0302pital Necker-Enfants Malades, Paris, France"},{"name":"Unite\u0301 d\u2019Immunologie et d\u2019He\u0301matologie Pe\u0301diatriques, Ho\u0302pital Debrousse, Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nade\u0300ge","family":"Corradini","sequence":"additional","affiliation":[{"name":"Unite\u0301 d\u2019Immunologie et d\u2019He\u0301 matologie pe\u0301diatriques, Ho\u0302pital Necker-Enfants Malades, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smail","family":"Hadj-Rabia","sequence":"additional","affiliation":[{"name":"Service de Dermatologie, Ho\u0302pital Necker-Enfants Malades, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Christophe","family":"Fournet","sequence":"additional","affiliation":[{"name":"Service d\u2019Anatomopathologie, Ho\u0302pital Necker-Enfants Malades, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[{"name":"Unite\u0301 de recherche sur les Handicaps Ge\u0301ne\u0301tiques de l\u2019Enfant, INSERM U393, Ho\u0302pital Necker-Enfants Malades, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franc\u0327oise","family":"Le Deist","sequence":"additional","affiliation":[{"name":"Laboratoire d\u2019Immunologie Pe\u0301diatrique, Ho\u0302pital Necker-Enfants Malades, Paris, France"},{"name":"De\u0301veloppement Normal et Pathologique du syste\u0300me immunitaire, INSERM U429, Ho\u0302pital Necker-Enfants Malades, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Durand","sequence":"additional","affiliation":[{"name":"Unite\u0301 de re\u0301animation pe\u0301diatrique, Ho\u0302pital Kremlin-Bice\u0302tre, Le Kremlin Bice\u0302tre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rainer","family":"Do\u0308ffinger","sequence":"additional","affiliation":[{"name":"Laboratoire de Ge\u0301ne\u0301tique Humaine des Maladies Infectieuses, Universite\u0301 Rene\u0301 Descartes-INSERM U550, Faculte\u0301 de Me\u0301decine Necker-Enfants Malades, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asma","family":"Smahi","sequence":"additional","affiliation":[{"name":"Unite\u0301 de recherche sur les Handicaps Ge\u0301ne\u0301tiques de l\u2019Enfant, INSERM U393, Ho\u0302pital Necker-Enfants Malades, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Israel","sequence":"additional","affiliation":[{"name":"Unite\u0301 de Biologie Mole\u0301culaire de l\u2019Expression Ge\u0301nique URA CNRS 1773, Institut Pasteur, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilles","family":"Courtois","sequence":"additional","affiliation":[{"name":"Unite\u0301 de Biologie Mole\u0301culaire de l\u2019Expression Ge\u0301nique URA CNRS 1773, Institut Pasteur, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Brousse","sequence":"additional","affiliation":[{"name":"Unite\u0301 de recherche sur les Handicaps Ge\u0301ne\u0301tiques de l\u2019Enfant, INSERM U393, Ho\u0302pital Necker-Enfants Malades, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ste\u0301phane","family":"Blanche","sequence":"additional","affiliation":[{"name":"Unite\u0301 d\u2019Immunologie et d\u2019He\u0301 matologie pe\u0301diatriques, Ho\u0302pital Necker-Enfants Malades, Paris, France"},{"name":"Laboratoire de Ge\u0301ne\u0301tique Humaine des Maladies Infectieuses, Universite\u0301 Rene\u0301 Descartes-INSERM U550, Faculte\u0301 de Me\u0301decine Necker-Enfants Malades, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[{"name":"Unite\u0301 de recherche sur les Handicaps Ge\u0301ne\u0301tiques de 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