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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
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
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

Recent clinical studies

Etiology

Upper cervical spine and craniofacial morphology in hypohidrotic ectodermal dysplasia.
Sonnesen L, Jasemi A, Gjørup H, Daugaard-Jensen J
Eur Arch Paediatr Dent 2018 Oct;19(5):331-336. Epub 2018 Aug 20 doi: 10.1007/s40368-018-0362-8. PMID: 30128696
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
Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs).
Lee WI, Huang JL, Yeh KW, Jaing TH, Lin TY, Huang YC, Chiu CH
J Formos Med Assoc 2011 Dec;110(12):750-8. Epub 2011 Dec 23 doi: 10.1016/j.jfma.2011.11.004. PMID: 22248828
Septicemia without sepsis: inherited disorders of nuclear factor-kappa B-mediated inflammation.
von Bernuth H, Puel A, Ku CL, Yang K, Bustamante J, Chang HH, Picard C, Casanova JL
Clin Infect Dis 2005 Nov 15;41 Suppl 7:S436-9. doi: 10.1086/431994. PMID: 16237643
Primary immunodeficiencies associated with pneumococcal disease.
Picard C, Puel A, Bustamante J, Ku CL, Casanova JL
Curr Opin Allergy Clin Immunol 2003 Dec;3(6):451-9. doi: 10.1097/00130832-200312000-00006. PMID: 14612669

Diagnosis

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
AAMR syndrome in a 22-month-old and literature review.
Oet MA, Brahma V, McGrath J, Galvin JA
Ophthalmic Genet 2022 Oct;43(5):658-660. Epub 2022 May 23 doi: 10.1080/13816810.2022.2068046. PMID: 35607266
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
Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency.
Picard C, Casanova JL, Puel A
Clin Microbiol Rev 2011 Jul;24(3):490-7. doi: 10.1128/CMR.00001-11. PMID: 21734245Free PMC Article
Primary immunodeficiencies associated with pneumococcal disease.
Picard C, Puel A, Bustamante J, Ku CL, Casanova JL
Curr Opin Allergy Clin Immunol 2003 Dec;3(6):451-9. doi: 10.1097/00130832-200312000-00006. PMID: 14612669

Therapy

Disseminated Nontuberculous Mycobacterial Infection in a Tertiary Referral Hospital in South Korea: A Retrospective Observational Study.
Park H, Kang YA, Park Y
Yonsei Med J 2023 Oct;64(10):612-617. doi: 10.3349/ymj.2023.0046. PMID: 37727920Free PMC Article
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
A novel NFKBIA variant substituting serine 36 of IκBα causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia.
Sogkas G, Adriawan IR, Ringshausen FC, Baumann U, Schröder C, Klemann C, von Hardenberg S, Schmidt G, Bernd A, Jablonka A, Ernst D, Schmidt RE, Atschekzei F
Clin Immunol 2020 Jan;210:108269. Epub 2019 Nov 1 doi: 10.1016/j.clim.2019.108269. PMID: 31683054
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

Prognosis

Disseminated Nontuberculous Mycobacterial Infection in a Tertiary Referral Hospital in South Korea: A Retrospective Observational Study.
Park H, Kang YA, Park Y
Yonsei Med J 2023 Oct;64(10):612-617. doi: 10.3349/ymj.2023.0046. PMID: 37727920Free PMC Article
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
X-linked hypohidrotic ectodermal dysplasia: a ten-year case report and clinical considerations.
Dall'Oca S, Ceppi E, Pompa G, Polimeni A
Eur J Paediatr Dent 2008 Dec;9(4 Suppl):14-8. PMID: 19886367

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
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

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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