Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.
Identifieur interne : 000650 ( France/Analysis ); précédent : 000649; suivant : 000651Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.
Auteurs : Sophie Dupuis-Girod [France] ; Nadège Corradini ; Smail Hadj-Rabia ; Jean-Christophe Fournet ; Laurence Faivre ; Françoise Le Deist ; Philippe Durand ; Rainer Döffinger ; Asma Smahi ; Alain Israel ; Gilles Courtois ; Nicole Brousse ; Stéphane Blanche ; Arnold Munnich ; Alain Fischer ; Jean-Laurent Casanova ; Christine BodemerSource :
- Pediatrics [ 1098-4275 ] ; 2002.
Descripteurs français
- KwdFr :
- Adulte, Codon stop (génétique), Dysplasie ectodermique (diagnostic), Dysplasie ectodermique (génétique), Déficits immunitaires (diagnostic), Déficits immunitaires (génétique), Facteur de transcription NF-kappa B (génétique), Facteurs de l'âge, Facteurs sexuels, Humains, I-kappa B Kinase, Incontinentia pigmenti (diagnostic), Incontinentia pigmenti (génétique), Lymphoedème (diagnostic), Lymphoedème (génétique), Malformations multiples (diagnostic), Malformations multiples (génétique), Mutation (génétique), Mâle, Nourrisson, Nouveau-né, Ostéopétrose (diagnostic), Ostéopétrose (génétique), Protein-Serine-Threonine Kinases (génétique), Syndrome.
- MESH :
- diagnostic : Dysplasie ectodermique, Déficits immunitaires, Incontinentia pigmenti, Lymphoedème, Malformations multiples, Ostéopétrose.
- génétique : Codon stop, Dysplasie ectodermique, Déficits immunitaires, Facteur de transcription NF-kappa B, Incontinentia pigmenti, Lymphoedème, Malformations multiples, Mutation, Ostéopétrose, Protein-Serine-Threonine Kinases.
- Adulte, Facteurs de l'âge, Facteurs sexuels, Humains, I-kappa B Kinase, Mâle, Nourrisson, Nouveau-né, Syndrome.
English descriptors
- KwdEn :
- Abnormalities, Multiple (diagnosis), Abnormalities, Multiple (genetics), Adult, Age Factors, Codon, Terminator (genetics), Ectodermal Dysplasia (diagnosis), Ectodermal Dysplasia (genetics), Humans, I-kappa B Kinase, Immunologic Deficiency Syndromes (diagnosis), Immunologic Deficiency Syndromes (genetics), Incontinentia Pigmenti (diagnosis), Incontinentia Pigmenti (genetics), Infant, Infant, Newborn, Lymphedema (diagnosis), Lymphedema (genetics), Male, Mutation (genetics), NF-kappa B (genetics), Osteopetrosis (diagnosis), Osteopetrosis (genetics), Protein-Serine-Threonine Kinases (genetics), Sex Factors, Syndrome.
- MESH :
- chemical , genetics : Codon, Terminator, NF-kappa B, Protein-Serine-Threonine Kinases.
- diagnosis : Abnormalities, Multiple, Ectodermal Dysplasia, Immunologic Deficiency Syndromes, Incontinentia Pigmenti, Lymphedema, Osteopetrosis.
- genetics : Abnormalities, Multiple, Ectodermal Dysplasia, Immunologic Deficiency Syndromes, Incontinentia Pigmenti, Lymphedema, Mutation, Osteopetrosis.
- Adult, Age Factors, Humans, I-kappa B Kinase, Infant, Infant, Newborn, Male, Sex Factors, Syndrome.
Abstract
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's 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-kappaB 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-kappaB essential modulator, with a genotype-phenotype correlation in hemizygous males. In contrast, loss-of-function mutations and hypomorphic mutations may cause IP in females.
PubMed: 12042591
Affiliations:
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pubmed:12042591Le document en format XML
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type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Corradini, Nadege" sort="Corradini, Nadege" uniqKey="Corradini N" first="Nadège" last="Corradini">Nadège Corradini</name></author><author><name sortKey="Hadj Rabia, Smail" sort="Hadj Rabia, Smail" uniqKey="Hadj Rabia S" first="Smail" last="Hadj-Rabia">Smail Hadj-Rabia</name></author><author><name sortKey="Fournet, Jean Christophe" sort="Fournet, Jean Christophe" uniqKey="Fournet J" first="Jean-Christophe" last="Fournet">Jean-Christophe Fournet</name></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name></author><author><name sortKey="Le Deist, Francoise" sort="Le Deist, Francoise" uniqKey="Le Deist F" first="Françoise" last="Le Deist">Françoise Le Deist</name></author><author><name sortKey="Durand, Philippe" 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(genetics)</term><term>Ectodermal Dysplasia (diagnosis)</term><term>Ectodermal Dysplasia (genetics)</term><term>Humans</term><term>I-kappa B Kinase</term><term>Immunologic Deficiency Syndromes (diagnosis)</term><term>Immunologic Deficiency Syndromes (genetics)</term><term>Incontinentia Pigmenti (diagnosis)</term><term>Incontinentia Pigmenti (genetics)</term><term>Infant</term><term>Infant, Newborn</term><term>Lymphedema (diagnosis)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Mutation (genetics)</term><term>NF-kappa B (genetics)</term><term>Osteopetrosis (diagnosis)</term><term>Osteopetrosis (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Sex Factors</term><term>Syndrome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Codon stop (génétique)</term><term>Dysplasie ectodermique (diagnostic)</term><term>Dysplasie ectodermique (génétique)</term><term>Déficits immunitaires (diagnostic)</term><term>Déficits immunitaires (génétique)</term><term>Facteur de transcription NF-kappa B (génétique)</term><term>Facteurs de l'âge</term><term>Facteurs sexuels</term><term>Humains</term><term>I-kappa B Kinase</term><term>Incontinentia pigmenti (diagnostic)</term><term>Incontinentia pigmenti (génétique)</term><term>Lymphoedème (diagnostic)</term><term>Lymphoedème (génétique)</term><term>Malformations multiples (diagnostic)</term><term>Malformations multiples (génétique)</term><term>Mutation (génétique)</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Ostéopétrose (diagnostic)</term><term>Ostéopétrose (génétique)</term><term>Protein-Serine-Threonine Kinases (génétique)</term><term>Syndrome</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Codon, Terminator</term><term>NF-kappa B</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Abnormalities, Multiple</term><term>Ectodermal Dysplasia</term><term>Immunologic Deficiency Syndromes</term><term>Incontinentia Pigmenti</term><term>Lymphedema</term><term>Osteopetrosis</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Dysplasie ectodermique</term><term>Déficits immunitaires</term><term>Incontinentia pigmenti</term><term>Lymphoedème</term><term>Malformations multiples</term><term>Ostéopétrose</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term><term>Ectodermal Dysplasia</term><term>Immunologic Deficiency Syndromes</term><term>Incontinentia Pigmenti</term><term>Lymphedema</term><term>Mutation</term><term>Osteopetrosis</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Codon stop</term><term>Dysplasie ectodermique</term><term>Déficits immunitaires</term><term>Facteur de transcription NF-kappa B</term><term>Incontinentia pigmenti</term><term>Lymphoedème</term><term>Malformations multiples</term><term>Mutation</term><term>Ostéopétrose</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age Factors</term><term>Humans</term><term>I-kappa B Kinase</term><term>Infant</term><term>Infant, Newborn</term><term>Male</term><term>Sex Factors</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Facteurs de l'âge</term><term>Facteurs sexuels</term><term>Humains</term><term>I-kappa B Kinase</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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's 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-kappaB 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-kappaB essential modulator, with a genotype-phenotype correlation in hemizygous males. In contrast, loss-of-function mutations and hypomorphic mutations may cause IP in females.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement></list><tree><noCountry><name sortKey="Blanche, Stephane" sort="Blanche, Stephane" uniqKey="Blanche S" first="Stéphane" last="Blanche">Stéphane Blanche</name><name sortKey="Bodemer, Christine" sort="Bodemer, Christine" uniqKey="Bodemer C" first="Christine" last="Bodemer">Christine Bodemer</name><name sortKey="Brousse, Nicole" sort="Brousse, Nicole" uniqKey="Brousse N" first="Nicole" last="Brousse">Nicole Brousse</name><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><name sortKey="Corradini, Nadege" sort="Corradini, Nadege" uniqKey="Corradini N" first="Nadège" last="Corradini">Nadège Corradini</name><name sortKey="Courtois, Gilles" sort="Courtois, Gilles" uniqKey="Courtois G" first="Gilles" last="Courtois">Gilles Courtois</name><name sortKey="Doffinger, Rainer" sort="Doffinger, Rainer" uniqKey="Doffinger R" first="Rainer" last="Döffinger">Rainer Döffinger</name><name sortKey="Durand, Philippe" sort="Durand, Philippe" uniqKey="Durand P" first="Philippe" last="Durand">Philippe Durand</name><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><name sortKey="Fischer, Alain" sort="Fischer, Alain" uniqKey="Fischer A" first="Alain" last="Fischer">Alain Fischer</name><name sortKey="Fournet, Jean Christophe" sort="Fournet, Jean Christophe" uniqKey="Fournet J" first="Jean-Christophe" last="Fournet">Jean-Christophe Fournet</name><name sortKey="Hadj Rabia, Smail" sort="Hadj Rabia, Smail" uniqKey="Hadj Rabia S" first="Smail" last="Hadj-Rabia">Smail Hadj-Rabia</name><name sortKey="Israel, Alain" sort="Israel, Alain" uniqKey="Israel A" first="Alain" last="Israel">Alain Israel</name><name sortKey="Le Deist, Francoise" sort="Le Deist, Francoise" uniqKey="Le Deist F" first="Françoise" last="Le Deist">Françoise Le Deist</name><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><name sortKey="Smahi, Asma" sort="Smahi, Asma" uniqKey="Smahi A" first="Asma" last="Smahi">Asma Smahi</name></noCountry><country name="France"><region name="Île-de-France"><name sortKey="Dupuis Girod, Sophie" sort="Dupuis Girod, Sophie" uniqKey="Dupuis Girod S" first="Sophie" last="Dupuis-Girod">Sophie Dupuis-Girod</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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