Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection
Identifieur interne : 000861 ( PascalFrancis/Corpus ); précédent : 000860; suivant : 000862Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection
Auteurs : S. Mansour ; H. Woffendin ; S. Mitton ; I. Jeffery ; T. Jakins ; S. Kenwrick ; V. A. MurdaySource :
- American journal of medical genetics [ 0148-7299 ] ; 2001.
Descripteurs français
- Pascal (Inist)
- Incontinentia pigmenti, Etude cas, Homme, Dysplasie ectodermique anhidrotique, Association morbide, Phénotype, Ostéosclérose, Etude familiale, Infection, Lymphoedème, Survie, Mâle, Immunodéficit, Pathogénie, Déterminisme génétique, Hémopathie, Membre inférieur, Récidivant, Mutation, Gène, Dermatose bulleuse, Poil, Facteur transcription NFκB.
English descriptors
- KwdEn :
- Anhidrotic ectodermal dysplasia, Bullous dermatosis, Case study, Concomitant disease, Family study, Gene, Genetic determinism, Hair, Hemopathy, Human, Immune deficiency, Incontinentia pigmenti, Infection, Lower limb, Lymphedema, Male, Mutation, Osteosclerosis, Pathogenesis, Phenotype, Recurrent, Survival, Transcription factor NFκB.
Abstract
Familial Incontinentia pigmenti (IP) is a rare X-linked dominant condition. The affected cases have characteristic skin lesions, hair, eye, teeth and nail abnormalities and may also have neurological problems. The diagnosis has traditionally been made on clinical grounds. Segregation analysis has suggested that it is lethal in males. Only one liveborn male has been reported who died at one day of age. Female cases of IP survive because of the moderating effects of Lyonization. This child was the affected son of a female with IP. He had a novel phenotype consistent with hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID) but with additional features: he had major problems with hematological disturbances, failure to thrive due to malabsorption, recurrent infections, generalized osteosclerosis and lymphedema of his lower limbs. He also demonstrated some typical features of IP with a generalized reticular skin hyperpigmentation, sparse hair and delayed eruption of teeth. The gene for NEMO (NF-κB Essential Modulator) has recently been shown to be mutated in cases of IP. Furthermore, most (80%) of patients possess a recurrent genomic rearrangement that deletes part of the gene resulting in an inactive NEMO protein. In the male case described here, a NEMO stop codon mutation has been identified that has arisen de novo in his affected mother. This mutation is likely to have a less severe effect on NEMO activity and may explain why this child survived for two years and 7 months.
Notice en format standard (ISO 2709)
Pour connaître la documentation sur le format Inist Standard.
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Format Inist (serveur)
NO : | PASCAL 01-0190025 INIST |
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ET : | Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection |
AU : | MANSOUR (S.); WOFFENDIN (H.); MITTON (S.); JEFFERY (I.); JAKINS (T.); KENWRICK (S.); MURDAY (V. A.) |
AF : | Department of Medical Genetics, St George's Hospital Medical School/Tooting, London/Royaume-Uni (1 aut., 7 aut.); Wellcome Trust Centre for Molecular Mechanisms of Disease, Cambridge University Department of Medicine, Cambridge, Addenbrooke's Hospital, Hills Road/Cambridge/Royaume-Uni (2 aut., 5 aut., 6 aut.); Department of Child Health, St George's Hospital Medical School/Tooting, London/Royaume-Uni (3 aut.); Department of Pathology, St George's Hospital Medical School/Tooting, London/Royaume-Uni (4 aut.) |
DT : | Publication en série; Courte communication, note brève; Niveau analytique |
SO : | American journal of medical genetics; ISSN 0148-7299; Coden AJMGDA; Etats-Unis; Da. 2001; Vol. 99; No. 2; Pp. 172-177; Bibl. 12 ref. |
LA : | Anglais |
EA : | Familial Incontinentia pigmenti (IP) is a rare X-linked dominant condition. The affected cases have characteristic skin lesions, hair, eye, teeth and nail abnormalities and may also have neurological problems. The diagnosis has traditionally been made on clinical grounds. Segregation analysis has suggested that it is lethal in males. Only one liveborn male has been reported who died at one day of age. Female cases of IP survive because of the moderating effects of Lyonization. This child was the affected son of a female with IP. He had a novel phenotype consistent with hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID) but with additional features: he had major problems with hematological disturbances, failure to thrive due to malabsorption, recurrent infections, generalized osteosclerosis and lymphedema of his lower limbs. He also demonstrated some typical features of IP with a generalized reticular skin hyperpigmentation, sparse hair and delayed eruption of teeth. The gene for NEMO (NF-κB Essential Modulator) has recently been shown to be mutated in cases of IP. Furthermore, most (80%) of patients possess a recurrent genomic rearrangement that deletes part of the gene resulting in an inactive NEMO protein. In the male case described here, a NEMO stop codon mutation has been identified that has arisen de novo in his affected mother. This mutation is likely to have a less severe effect on NEMO activity and may explain why this child survived for two years and 7 months. |
CC : | 002B08B |
FD : | Incontinentia pigmenti; Etude cas; Homme; Dysplasie ectodermique anhidrotique; Association morbide; Phénotype; Ostéosclérose; Etude familiale; Infection; Lymphoedème; Survie; Mâle; Immunodéficit; Pathogénie; Déterminisme génétique; Hémopathie; Membre inférieur; Récidivant; Mutation; Gène; Dermatose bulleuse; Poil; Facteur transcription NFκB |
FG : | Peau pathologie; Trouble pigmentation; Oeil pathologie; Système nerveux pathologie; Stomatologie; Dent pathologie; Maladie héréditaire; Glande sudoripare pathologie; Malformation; Maladie congénitale; Système ostéoarticulaire pathologie; Ostéochondrodysplasie; Appareil circulatoire pathologie; Lymphatique pathologie; Immunopathologie |
ED : | Incontinentia pigmenti; Case study; Human; Anhidrotic ectodermal dysplasia; Concomitant disease; Phenotype; Osteosclerosis; Family study; Infection; Lymphedema; Survival; Male; Immune deficiency; Pathogenesis; Genetic determinism; Hemopathy; Lower limb; Recurrent; Mutation; Gene; Bullous dermatosis; Hair; Transcription factor NFκB |
EG : | Skin disease; Pigmentation disorder; Eye disease; Nervous system diseases; Stomatology; Dental disease; Genetic disease; Sweat gland disease; Malformation; Congenital disease; Diseases of the osteoarticular system; Osteochondrodysplasia; Cardiovascular disease; Lymphatic vessel disease; Immunopathology |
SD : | Incontinentia pigmenti; Estudio caso; Hombre; Displasia ectodérmica anhidrótica; Asociación morbosa; Fenotipo; Osteoesclerosis; Estudio familiar; Infección; Linfedema; Sobrevivencia; Macho; Inmunodeficiencia; Patogenia; Determinismo genético; Hemopatía; Miembro inferior; Recidivante; Mutación; Gen; Dermatosis bulosa; Pelo |
LO : | INIST-17405.354000097994960210 |
ID : | 01-0190025 |
Links to Exploration step
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<front><div type="abstract" xml:lang="en">Familial Incontinentia pigmenti (IP) is a rare X-linked dominant condition. The affected cases have characteristic skin lesions, hair, eye, teeth and nail abnormalities and may also have neurological problems. The diagnosis has traditionally been made on clinical grounds. Segregation analysis has suggested that it is lethal in males. Only one liveborn male has been reported who died at one day of age. Female cases of IP survive because of the moderating effects of Lyonization. This child was the affected son of a female with IP. He had a novel phenotype consistent with hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID) but with additional features: he had major problems with hematological disturbances, failure to thrive due to malabsorption, recurrent infections, generalized osteosclerosis and lymphedema of his lower limbs. He also demonstrated some typical features of IP with a generalized reticular skin hyperpigmentation, sparse hair and delayed eruption of teeth. The gene for NEMO (NF-κB Essential Modulator) has recently been shown to be mutated in cases of IP. Furthermore, most (80%) of patients possess a recurrent genomic rearrangement that deletes part of the gene resulting in an inactive NEMO protein. In the male case described here, a NEMO stop codon mutation has been identified that has arisen de novo in his affected mother. This mutation is likely to have a less severe effect on NEMO activity and may explain why this child survived for two years and 7 months.</div>
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<fC03 i1="07" i2="X" l="ENG"><s0>Osteosclerosis</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Osteoesclerosis</s0>
<s5>07</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Etude familiale</s0>
<s5>08</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Family study</s0>
<s5>08</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Estudio familiar</s0>
<s5>08</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Infection</s0>
<s5>09</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Infection</s0>
<s5>09</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Infección</s0>
<s5>09</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Lymphoedème</s0>
<s5>10</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Lymphedema</s0>
<s5>10</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Linfedema</s0>
<s5>10</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>Survie</s0>
<s5>11</s5>
</fC03>
<fC03 i1="11" i2="X" l="ENG"><s0>Survival</s0>
<s5>11</s5>
</fC03>
<fC03 i1="11" i2="X" l="SPA"><s0>Sobrevivencia</s0>
<s5>11</s5>
</fC03>
<fC03 i1="12" i2="X" l="FRE"><s0>Mâle</s0>
<s5>12</s5>
</fC03>
<fC03 i1="12" i2="X" l="ENG"><s0>Male</s0>
<s5>12</s5>
</fC03>
<fC03 i1="12" i2="X" l="SPA"><s0>Macho</s0>
<s5>12</s5>
</fC03>
<fC03 i1="13" i2="X" l="FRE"><s0>Immunodéficit</s0>
<s5>13</s5>
</fC03>
<fC03 i1="13" i2="X" l="ENG"><s0>Immune deficiency</s0>
<s5>13</s5>
</fC03>
<fC03 i1="13" i2="X" l="SPA"><s0>Inmunodeficiencia</s0>
<s5>13</s5>
</fC03>
<fC03 i1="14" i2="X" l="FRE"><s0>Pathogénie</s0>
<s5>14</s5>
</fC03>
<fC03 i1="14" i2="X" l="ENG"><s0>Pathogenesis</s0>
<s5>14</s5>
</fC03>
<fC03 i1="14" i2="X" l="SPA"><s0>Patogenia</s0>
<s5>14</s5>
</fC03>
<fC03 i1="15" i2="X" l="FRE"><s0>Déterminisme génétique</s0>
<s5>15</s5>
</fC03>
<fC03 i1="15" i2="X" l="ENG"><s0>Genetic determinism</s0>
<s5>15</s5>
</fC03>
<fC03 i1="15" i2="X" l="SPA"><s0>Determinismo genético</s0>
<s5>15</s5>
</fC03>
<fC03 i1="16" i2="X" l="FRE"><s0>Hémopathie</s0>
<s5>17</s5>
</fC03>
<fC03 i1="16" i2="X" l="ENG"><s0>Hemopathy</s0>
<s5>17</s5>
</fC03>
<fC03 i1="16" i2="X" l="SPA"><s0>Hemopatía</s0>
<s5>17</s5>
</fC03>
<fC03 i1="17" i2="X" l="FRE"><s0>Membre inférieur</s0>
<s5>18</s5>
</fC03>
<fC03 i1="17" i2="X" l="ENG"><s0>Lower limb</s0>
<s5>18</s5>
</fC03>
<fC03 i1="17" i2="X" l="SPA"><s0>Miembro inferior</s0>
<s5>18</s5>
</fC03>
<fC03 i1="18" i2="X" l="FRE"><s0>Récidivant</s0>
<s5>19</s5>
</fC03>
<fC03 i1="18" i2="X" l="ENG"><s0>Recurrent</s0>
<s5>19</s5>
</fC03>
<fC03 i1="18" i2="X" l="SPA"><s0>Recidivante</s0>
<s5>19</s5>
</fC03>
<fC03 i1="19" i2="X" l="FRE"><s0>Mutation</s0>
<s5>20</s5>
</fC03>
<fC03 i1="19" i2="X" l="ENG"><s0>Mutation</s0>
<s5>20</s5>
</fC03>
<fC03 i1="19" i2="X" l="SPA"><s0>Mutación</s0>
<s5>20</s5>
</fC03>
<fC03 i1="20" i2="X" l="FRE"><s0>Gène</s0>
<s5>21</s5>
</fC03>
<fC03 i1="20" i2="X" l="ENG"><s0>Gene</s0>
<s5>21</s5>
</fC03>
<fC03 i1="20" i2="X" l="SPA"><s0>Gen</s0>
<s5>21</s5>
</fC03>
<fC03 i1="21" i2="X" l="FRE"><s0>Dermatose bulleuse</s0>
<s5>25</s5>
</fC03>
<fC03 i1="21" i2="X" l="ENG"><s0>Bullous dermatosis</s0>
<s5>25</s5>
</fC03>
<fC03 i1="21" i2="X" l="SPA"><s0>Dermatosis bulosa</s0>
<s5>25</s5>
</fC03>
<fC03 i1="22" i2="X" l="FRE"><s0>Poil</s0>
<s5>27</s5>
</fC03>
<fC03 i1="22" i2="X" l="ENG"><s0>Hair</s0>
<s5>27</s5>
</fC03>
<fC03 i1="22" i2="X" l="SPA"><s0>Pelo</s0>
<s5>27</s5>
</fC03>
<fC03 i1="23" i2="X" l="FRE"><s0>Facteur transcription NFκB</s0>
<s4>CD</s4>
<s5>96</s5>
</fC03>
<fC03 i1="23" i2="X" l="ENG"><s0>Transcription factor NFκB</s0>
<s4>CD</s4>
<s5>96</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Peau pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Skin disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Piel patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Trouble pigmentation</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Pigmentation disorder</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Trastorno pigmentación</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Oeil pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Eye disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Ojo patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Stomatologie</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Stomatology</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Estomatología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Dent pathologie</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Dental disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Diente patología</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>43</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Glande sudoripare pathologie</s0>
<s5>46</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Sweat gland disease</s0>
<s5>46</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Glándula sudorípara patología</s0>
<s5>46</s5>
</fC07>
<fC07 i1="09" i2="X" l="FRE"><s0>Malformation</s0>
<s5>48</s5>
</fC07>
<fC07 i1="09" i2="X" l="ENG"><s0>Malformation</s0>
<s5>48</s5>
</fC07>
<fC07 i1="09" i2="X" l="SPA"><s0>Malformación</s0>
<s5>48</s5>
</fC07>
<fC07 i1="10" i2="X" l="FRE"><s0>Maladie congénitale</s0>
<s5>51</s5>
</fC07>
<fC07 i1="10" i2="X" l="ENG"><s0>Congenital disease</s0>
<s5>51</s5>
</fC07>
<fC07 i1="10" i2="X" l="SPA"><s0>Enfermedad congénita</s0>
<s5>51</s5>
</fC07>
<fC07 i1="11" i2="X" l="FRE"><s0>Système ostéoarticulaire pathologie</s0>
<s5>53</s5>
</fC07>
<fC07 i1="11" i2="X" l="ENG"><s0>Diseases of the osteoarticular system</s0>
<s5>53</s5>
</fC07>
<fC07 i1="11" i2="X" l="SPA"><s0>Sistema osteoarticular patología</s0>
<s5>53</s5>
</fC07>
<fC07 i1="12" i2="X" l="FRE"><s0>Ostéochondrodysplasie</s0>
<s5>54</s5>
</fC07>
<fC07 i1="12" i2="X" l="ENG"><s0>Osteochondrodysplasia</s0>
<s5>54</s5>
</fC07>
<fC07 i1="12" i2="X" l="SPA"><s0>Osteocondrodisplasia</s0>
<s5>54</s5>
</fC07>
<fC07 i1="13" i2="X" l="FRE"><s0>Appareil circulatoire pathologie</s0>
<s5>61</s5>
</fC07>
<fC07 i1="13" i2="X" l="ENG"><s0>Cardiovascular disease</s0>
<s5>61</s5>
</fC07>
<fC07 i1="13" i2="X" l="SPA"><s0>Aparato circulatorio patología</s0>
<s5>61</s5>
</fC07>
<fC07 i1="14" i2="X" l="FRE"><s0>Lymphatique pathologie</s0>
<s5>62</s5>
</fC07>
<fC07 i1="14" i2="X" l="ENG"><s0>Lymphatic vessel disease</s0>
<s5>62</s5>
</fC07>
<fC07 i1="14" i2="X" l="SPA"><s0>Linfático patología</s0>
<s5>62</s5>
</fC07>
<fC07 i1="15" i2="X" l="FRE"><s0>Immunopathologie</s0>
<s5>69</s5>
</fC07>
<fC07 i1="15" i2="X" l="ENG"><s0>Immunopathology</s0>
<s5>69</s5>
</fC07>
<fC07 i1="15" i2="X" l="SPA"><s0>Inmunopatología</s0>
<s5>69</s5>
</fC07>
<fN21><s1>126</s1>
</fN21>
</pA>
</standard>
<server><NO>PASCAL 01-0190025 INIST</NO>
<ET>Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection</ET>
<AU>MANSOUR (S.); WOFFENDIN (H.); MITTON (S.); JEFFERY (I.); JAKINS (T.); KENWRICK (S.); MURDAY (V. A.)</AU>
<AF>Department of Medical Genetics, St George's Hospital Medical School/Tooting, London/Royaume-Uni (1 aut., 7 aut.); Wellcome Trust Centre for Molecular Mechanisms of Disease, Cambridge University Department of Medicine, Cambridge, Addenbrooke's Hospital, Hills Road/Cambridge/Royaume-Uni (2 aut., 5 aut., 6 aut.); Department of Child Health, St George's Hospital Medical School/Tooting, London/Royaume-Uni (3 aut.); Department of Pathology, St George's Hospital Medical School/Tooting, London/Royaume-Uni (4 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>American journal of medical genetics; ISSN 0148-7299; Coden AJMGDA; Etats-Unis; Da. 2001; Vol. 99; No. 2; Pp. 172-177; Bibl. 12 ref.</SO>
<LA>Anglais</LA>
<EA>Familial Incontinentia pigmenti (IP) is a rare X-linked dominant condition. The affected cases have characteristic skin lesions, hair, eye, teeth and nail abnormalities and may also have neurological problems. The diagnosis has traditionally been made on clinical grounds. Segregation analysis has suggested that it is lethal in males. Only one liveborn male has been reported who died at one day of age. Female cases of IP survive because of the moderating effects of Lyonization. This child was the affected son of a female with IP. He had a novel phenotype consistent with hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID) but with additional features: he had major problems with hematological disturbances, failure to thrive due to malabsorption, recurrent infections, generalized osteosclerosis and lymphedema of his lower limbs. He also demonstrated some typical features of IP with a generalized reticular skin hyperpigmentation, sparse hair and delayed eruption of teeth. The gene for NEMO (NF-κB Essential Modulator) has recently been shown to be mutated in cases of IP. Furthermore, most (80%) of patients possess a recurrent genomic rearrangement that deletes part of the gene resulting in an inactive NEMO protein. In the male case described here, a NEMO stop codon mutation has been identified that has arisen de novo in his affected mother. This mutation is likely to have a less severe effect on NEMO activity and may explain why this child survived for two years and 7 months.</EA>
<CC>002B08B</CC>
<FD>Incontinentia pigmenti; Etude cas; Homme; Dysplasie ectodermique anhidrotique; Association morbide; Phénotype; Ostéosclérose; Etude familiale; Infection; Lymphoedème; Survie; Mâle; Immunodéficit; Pathogénie; Déterminisme génétique; Hémopathie; Membre inférieur; Récidivant; Mutation; Gène; Dermatose bulleuse; Poil; Facteur transcription NFκB</FD>
<FG>Peau pathologie; Trouble pigmentation; Oeil pathologie; Système nerveux pathologie; Stomatologie; Dent pathologie; Maladie héréditaire; Glande sudoripare pathologie; Malformation; Maladie congénitale; Système ostéoarticulaire pathologie; Ostéochondrodysplasie; Appareil circulatoire pathologie; Lymphatique pathologie; Immunopathologie</FG>
<ED>Incontinentia pigmenti; Case study; Human; Anhidrotic ectodermal dysplasia; Concomitant disease; Phenotype; Osteosclerosis; Family study; Infection; Lymphedema; Survival; Male; Immune deficiency; Pathogenesis; Genetic determinism; Hemopathy; Lower limb; Recurrent; Mutation; Gene; Bullous dermatosis; Hair; Transcription factor NFκB</ED>
<EG>Skin disease; Pigmentation disorder; Eye disease; Nervous system diseases; Stomatology; Dental disease; Genetic disease; Sweat gland disease; Malformation; Congenital disease; Diseases of the osteoarticular system; Osteochondrodysplasia; Cardiovascular disease; Lymphatic vessel disease; Immunopathology</EG>
<SD>Incontinentia pigmenti; Estudio caso; Hombre; Displasia ectodérmica anhidrótica; Asociación morbosa; Fenotipo; Osteoesclerosis; Estudio familiar; Infección; Linfedema; Sobrevivencia; Macho; Inmunodeficiencia; Patogenia; Determinismo genético; Hemopatía; Miembro inferior; Recidivante; Mutación; Gen; Dermatosis bulosa; Pelo</SD>
<LO>INIST-17405.354000097994960210</LO>
<ID>01-0190025</ID>
</server>
</inist>
</record>
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