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Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

MedGen UID:
929406
•Concept ID:
C4303737
•
Disease or Syndrome
Synonyms: Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome; anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome; ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema; OL-EDA-ID; ol-EDA-ID; OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema) syndrome; OLEDAID
SNOMED CT: Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (720986005); OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema) syndrome (720986005)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0010295
Orphanet: ORPHA69088

Definition

This syndrome is characterised by severe immunodeficiency, osteopetrosis, lymphoedema and anhidrotic ectodermal dysplasia. It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti. The first two reported children died before three years of age from multiple infections with Gram-positive cocci, Gram-negative bacilli, mycobacteria, and fungi. The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28). [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAnhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

Professional guidelines

PubMed

Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.
Petersheim D, Massaad MJ, Lee S, Scarselli A, Cancrini C, Moriya K, Sasahara Y, Lankester AC, Dorsey M, Di Giovanni D, Bezrodnik L, Ohnishi H, Nishikomori R, Tanita K, Kanegane H, Morio T, Gelfand EW, Jain A, Secord E, Picard C, Casanova JL, Albert MH, Torgerson TR, Geha RS
J Allergy Clin Immunol 2018 Mar;141(3):1060-1073.e3. Epub 2017 Jun 17 doi: 10.1016/j.jaci.2017.05.030. PMID: 28629746Free PMC Article
Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.
Kawai T, Nishikomori R, Heike T
Allergol Int 2012 Jun;61(2):207-17. doi: 10.2332/allergolint.12-RAI-0446. PMID: 22635013
Patients with abnormal IgM levels: assessment, clinical interpretation, and treatment.
Ochs HD
Ann Allergy Asthma Immunol 2008 May;100(5):509-11. doi: 10.1016/S1081-1206(10)60479-6. PMID: 18517086

Recent clinical studies

Etiology

X-linked genodermatoses from diagnosis to tailored therapy.
Medori MC, Gisondi P, Bellinato F, Bonetti G, Micheletti C, Donato K, Dhuli K, Ergoren MC, Cristofoli F, Cecchin S, Marceddu G, Bertelli M
Clin Ter 2023 Nov-Dec;174(Suppl 2(6)):236-242. doi: 10.7417/CT.2023.2493. PMID: 37994770
Inborn errors of immunity associated with characteristic phenotypes.
Bardou MLD, Henriques MT, Grumach AS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. Epub 2020 Dec 19 doi: 10.1016/j.jped.2020.10.015. PMID: 33347837Free PMC Article
A common founder mutation in the EDA-A1 gene in X-linked hypodontia.
Kurban M, Michailidis E, Wajid M, Shimomura Y, Christiano AM
Dermatology 2010;221(3):243-7. doi: 10.1159/000314329. PMID: 20628232Free PMC Article
Inherited disorders of NF-kappaB-mediated immunity in man.
Puel A, Picard C, Ku CL, Smahi A, Casanova JL
Curr Opin Immunol 2004 Feb;16(1):34-41. doi: 10.1016/j.coi.2003.11.013. PMID: 14734108
Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.
Carrol ED, Gennery AR, Flood TJ, Spickett GP, Abinun M
Arch Dis Child 2003 Apr;88(4):340-1. doi: 10.1136/adc.88.4.340. PMID: 12651765Free PMC Article

Diagnosis

An atypical case of incontinentia pigmenti with a hypomorphic variant.
Guo Y, Bu W, Jia W, Zhang Y, Li C
Pediatr Dermatol 2024 Mar-Apr;41(2):351-353. Epub 2023 Oct 18 doi: 10.1111/pde.15456. PMID: 37853991
Inborn errors of immunity associated with characteristic phenotypes.
Bardou MLD, Henriques MT, Grumach AS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. Epub 2020 Dec 19 doi: 10.1016/j.jped.2020.10.015. PMID: 33347837Free PMC Article
Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.
Kawai T, Nishikomori R, Heike T
Allergol Int 2012 Jun;61(2):207-17. doi: 10.2332/allergolint.12-RAI-0446. PMID: 22635013
Patients with abnormal IgM levels: assessment, clinical interpretation, and treatment.
Ochs HD
Ann Allergy Asthma Immunol 2008 May;100(5):509-11. doi: 10.1016/S1081-1206(10)60479-6. PMID: 18517086
Herediatary anhidrotic ectodermal dysplasia. Studies in a Nigerian famil.
Familusi JB, Jaiyesimi F, Ojo CO, Attah EB
Arch Dis Child 1975 Aug;50(8):642-7. doi: 10.1136/adc.50.8.642. PMID: 1200681Free PMC Article

Therapy

Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review.
Cerezo-Cayuelas M, Pérez-Silva A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ
Orphanet J Rare Dis 2022 Oct 17;17(1):376. doi: 10.1186/s13023-022-02533-0. PMID: 36253866Free PMC Article
Inborn errors of immunity associated with characteristic phenotypes.
Bardou MLD, Henriques MT, Grumach AS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. Epub 2020 Dec 19 doi: 10.1016/j.jped.2020.10.015. PMID: 33347837Free PMC Article
Lung transplantation for non-cystic fibrosis bronchiectasis.
Rademacher J, Ringshausen FC, Suhling H, Fuge J, Marsch G, Warnecke G, Haverich A, Welte T, Gottlieb J
Respir Med 2016 Jun;115:60-5. Epub 2016 Apr 20 doi: 10.1016/j.rmed.2016.04.007. PMID: 27215505
Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.
Carrol ED, Gennery AR, Flood TJ, Spickett GP, Abinun M
Arch Dis Child 2003 Apr;88(4):340-1. doi: 10.1136/adc.88.4.340. PMID: 12651765Free PMC Article
Herediatary anhidrotic ectodermal dysplasia. Studies in a Nigerian famil.
Familusi JB, Jaiyesimi F, Ojo CO, Attah EB
Arch Dis Child 1975 Aug;50(8):642-7. doi: 10.1136/adc.50.8.642. PMID: 1200681Free PMC Article

Prognosis

ORAI1 mutations abolishing store-operated Ca(2+) entry cause anhidrotic ectodermal dysplasia with immunodeficiency.
Lian J, Cuk M, Kahlfuss S, Kozhaya L, Vaeth M, Rieux-Laucat F, Picard C, Benson MJ, Jakovcevic A, Bilic K, Martinac I, Stathopulos P, Kacskovics I, Vraetz T, Speckmann C, Ehl S, Issekutz T, Unutmaz D, Feske S
J Allergy Clin Immunol 2018 Oct;142(4):1297-1310.e11. Epub 2017 Nov 16 doi: 10.1016/j.jaci.2017.10.031. PMID: 29155098Free PMC Article
Lung transplantation for non-cystic fibrosis bronchiectasis.
Rademacher J, Ringshausen FC, Suhling H, Fuge J, Marsch G, Warnecke G, Haverich A, Welte T, Gottlieb J
Respir Med 2016 Jun;115:60-5. Epub 2016 Apr 20 doi: 10.1016/j.rmed.2016.04.007. PMID: 27215505
Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.
Zeng B, Lu H, Xiao X, Zhou L, Lu J, Zhu L, Yu D, Zhao W
Oral Dis 2015 Nov;21(8):994-1000. Epub 2015 Oct 24 doi: 10.1111/odi.12376. PMID: 26411740
Epstein-Barr virus-positive diffuse large B-cell lymphomas of the elderly.
Adam P, Bonzheim I, Fend F, Quintanilla-Martínez L
Adv Anat Pathol 2011 Sep;18(5):349-55. doi: 10.1097/PAP.0b013e318229bf08. PMID: 21841405
Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.
Carrol ED, Gennery AR, Flood TJ, Spickett GP, Abinun M
Arch Dis Child 2003 Apr;88(4):340-1. doi: 10.1136/adc.88.4.340. PMID: 12651765Free PMC Article

Clinical prediction guides

Inborn errors of immunity associated with characteristic phenotypes.
Bardou MLD, Henriques MT, Grumach AS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. Epub 2020 Dec 19 doi: 10.1016/j.jped.2020.10.015. PMID: 33347837Free PMC Article
Clinical, trichoscopy, and light microscopic findings in hypohidrotic ectodermal dysplasia: Report of 21 patients and a review of the literature.
Peña-Romero AG, Sáez-de-Ocariz M, Toussaint-Caire S, Morán-Villaseñor E, Orozco-Covarrubias L, Durán-McKinster C
Pediatr Dermatol 2021 Mar;38(2):442-448. Epub 2020 Oct 21 doi: 10.1111/pde.14415. PMID: 33085121
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.
Petersheim D, Massaad MJ, Lee S, Scarselli A, Cancrini C, Moriya K, Sasahara Y, Lankester AC, Dorsey M, Di Giovanni D, Bezrodnik L, Ohnishi H, Nishikomori R, Tanita K, Kanegane H, Morio T, Gelfand EW, Jain A, Secord E, Picard C, Casanova JL, Albert MH, Torgerson TR, Geha RS
J Allergy Clin Immunol 2018 Mar;141(3):1060-1073.e3. Epub 2017 Jun 17 doi: 10.1016/j.jaci.2017.05.030. PMID: 28629746Free PMC Article
Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.
Zeng B, Lu H, Xiao X, Zhou L, Lu J, Zhu L, Yu D, Zhao W
Oral Dis 2015 Nov;21(8):994-1000. Epub 2015 Oct 24 doi: 10.1111/odi.12376. PMID: 26411740
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.
Clauss F, Chassaing N, Smahi A, Vincent MC, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C, Manière MC, Schmittbuhl M
Clin Genet 2010 Sep;78(3):257-66. Epub 2010 Feb 24 doi: 10.1111/j.1399-0004.2010.01376.x. PMID: 20236127

Recent systematic reviews

Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review.
Cerezo-Cayuelas M, Pérez-Silva A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ
Orphanet J Rare Dis 2022 Oct 17;17(1):376. doi: 10.1186/s13023-022-02533-0. PMID: 36253866Free PMC Article

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