Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis.


Journal

Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137

Informations de publication

Date de publication:
Nov 2023
Historique:
received: 11 05 2023
accepted: 13 07 2023
medline: 27 11 2023
pubmed: 29 7 2023
entrez: 28 7 2023
Statut: ppublish

Résumé

Autosomal recessive dedicator of cytokinesis 8 (DOCK8 This multicenter study involved 100 patients with DOCK8 There were 43 patients with DOCK8 The described features can be easily implemented by physicians providing early diagnosis of DOCK8 and STAT3 deficiencies.

Identifiants

pubmed: 37507632
doi: 10.1007/s10875-023-01554-z
pii: 10.1007/s10875-023-01554-z
doi:

Substances chimiques

STAT3 Transcription Factor 0
STAT3 protein, human 0
DOCK8 protein, human 0
Guanine Nucleotide Exchange Factors 0

Types de publication

Multicenter Study Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1882-1890

Subventions

Organisme : The Scientific and Technological Research Council of Turkey
ID : 318S202

Informations de copyright

© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.

Références

Woellner C, Gertz EM, Schaffer AA, Lagos M, Perro M, Glocker EO, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol. 2010;125(2):424-32 e8.
doi: 10.1016/j.jaci.2009.10.059 pubmed: 20159255 pmcid: 2878129
Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, et al. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007;357(16):1608–19.
doi: 10.1056/NEJMoa073687 pubmed: 17881745
Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007;448(7157):1058–62.
doi: 10.1038/nature06096 pubmed: 17676033
Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, et al. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr. 2004;144(1):93–9.
doi: 10.1016/S0022-3476(03)00449-9 pubmed: 14722525
Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, et al. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022;42(7):1473–507.
doi: 10.1007/s10875-022-01289-3 pubmed: 35748970 pmcid: 9244088
Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, et al. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol. 2009;124(6):1289-302 e4.
doi: 10.1016/j.jaci.2009.10.038 pubmed: 20004785 pmcid: 2818862
Buckley RH, Wray BB, Belmaker EZ. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics. 1972;49(1):59–70.
doi: 10.1542/peds.49.1.59 pubmed: 5059313
Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009;361(21):2046–55.
doi: 10.1056/NEJMoa0905506 pubmed: 19776401 pmcid: 2965730
Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, et al. DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol. 2015;35(2):189–98.
doi: 10.1007/s10875-014-0126-0 pubmed: 25627830
Shah NN, Freeman AF, Su H, Cole K, Parta M, Moutsopoulos NM, et al. Haploidentical Related Donor Hematopoietic Stem Cell Transplantation for Dedicator-of-Cytokinesis 8 Deficiency Using Post-Transplantation Cyclophosphamide. Biol Blood Marrow Transplant. 2017;23(6):980–90.
doi: 10.1016/j.bbmt.2017.03.016 pubmed: 28288951 pmcid: 5757872
Gernez Y, Freeman AF, Holland SM, Garabedian E, Patel NC, Puck JM, et al. Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry. J Allergy Clin Immunol Pract. 2018;6(3):996–1001.
doi: 10.1016/j.jaip.2017.06.041 pubmed: 28939137
Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, et al. Hyper-IgE syndrome with recurrent infections–an autosomal dominant multisystem disorder. N Engl J Med. 1999;340(9):692–702.
doi: 10.1056/NEJM199903043400904 pubmed: 10053178
Engelhardt KR, Gertz ME, Keles S, Schaffer AA, Sigmund EC, Glocker C, et al. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2015;136(2):402–12.
doi: 10.1016/j.jaci.2014.12.1945 pubmed: 25724123 pmcid: 4530066
Lehman H, Gordon C. The Skin as a Window into Primary Immune Deficiency Diseases: Atopic Dermatitis and Chronic Mucocutaneous Candidiasis. J Allergy Clin Immunol Pract. 2019;7(3):788–98.
doi: 10.1016/j.jaip.2018.11.026 pubmed: 30832893
Eberting CL, Davis J, Puck JM, Holland SM, Turner ML. Dermatitis and the newborn rash of hyper-IgE syndrome. Arch Dermatol. 2004;140(9):1119–25.
doi: 10.1001/archderm.140.9.1119 pubmed: 15381553
Nihal A, Comstock JR, Holland KE, Singh AM, Seroogy CM, Arkin LM. Clearance of atypical cutaneous manifestations of hyper-IgE syndrome with dupilumab. Pediatr Dermatol. 2022;39(6):940–2.
doi: 10.1111/pde.15072 pubmed: 35734823 pmcid: 10084161
Chu EY, Freeman AF, Jing H, Cowen EW, Davis J, Su HC, et al. Cutaneous manifestations of DOCK8 deficiency syndrome. Arch Dermatol. 2012;148(1):79–84.
doi: 10.1001/archdermatol.2011.262 pubmed: 21931011
Olaiwan A, Chandesris MO, Fraitag S, Lortholary O, Hermine O, Fischer A, et al. Cutaneous findings in sporadic and familial autosomal dominant hyper-IgE syndrome: a retrospective, single-center study of 21 patients diagnosed using molecular analysis. J Am Acad Dermatol. 2011;65(6):1167–72.
doi: 10.1016/j.jaad.2010.09.714 pubmed: 21703716
de Wit J, Brada RJK, van Veldhuizen J, Dalm V, Pasmans S. Skin disorders are prominent features in primary immunodeficiency diseases: A systematic overview of current data. Allergy. 2019;74(3):464–82.
doi: 10.1111/all.13681 pubmed: 30480813
Stadler PC, Renner ED, Milner J, Wollenberg A. Inborn Error of Immunity or Atopic Dermatitis: When to be Concerned and How to Investigate. J Allergy Clin Immunol Pract. 2021;9(4):1501–7.
doi: 10.1016/j.jaip.2021.01.037 pubmed: 33548520
Kasap N, Celik V, Isik S, Cennetoglu P, Kiykim A, Eltan SB, et al. A set of clinical and laboratory markers differentiates hyper-IgE syndrome from severe atopic dermatitis. Clin Immunol. 2021;223:108645.
doi: 10.1016/j.clim.2020.108645 pubmed: 33301882
Eken A, Cansever M, Okus FZ, Erdem S, Nain E, Azizoglu ZB, et al. ILC3 deficiency and generalized ILC abnormalities in DOCK8-deficient patients. Allergy. 2020;75(4):921–32.
doi: 10.1111/all.14081 pubmed: 31596517
Ma CS, Chew GY, Simpson N, Priyadarshi A, Wong M, Grimbacher B, et al. Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. J Exp Med. 2008;205(7):1551–7.
doi: 10.1084/jem.20080218 pubmed: 18591410 pmcid: 2442632
Kunz B, Oranje AP, Labreze L, Stalder JF, Ring J, Taieb A. Clinical validation and guidelines for the SCORAD index: consensus report of the European Task Force on Atopic Dermatitis. Dermatology. 1997;195(1):10–9.
doi: 10.1159/000245677 pubmed: 9267730
Kiykim A, Ogulur I, Dursun E, Charbonnier LM, Nain E, Cekic S, et al. Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency. J Allergy Clin Immunol Pract. 2019;7(8):2790-800 e15.
doi: 10.1016/j.jaip.2019.06.011 pubmed: 31238161 pmcid: 6842687
Catak MC, Akcam B, BilgicEltan S, Babayeva R, Karakus IS, Akgun G, et al. Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency. Allergy. 2022;77(10):3108–23.
doi: 10.1111/all.15331 pubmed: 35491430
Sefer AP, Abolhassani H, Ober F, Kayaoglu B, BilgicEltan S, Kara A, et al. Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency. J Clin Immunol. 2022;42(3):634–52.
doi: 10.1007/s10875-021-01191-4 pubmed: 35079916
Baris S, Benamar M, Chen Q, Catak MC, Martinez-Blanco M, Wang M, et al. Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6. J Allergy Clin Immunol. 2023.
Kennedy K, Heimall J, Spergel JM. Advances in atopic dermatitis in 2017. J Allergy Clin Immunol. 2018;142(6):1740–7.
doi: 10.1016/j.jaci.2018.10.012 pubmed: 30359683
Schimke LF, Sawalle-Belohradsky J, Roesler J, Wollenberg A, Rack A, Borte M, et al. Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. J Allergy Clin Immunol. 2010;126(3):611-7 e1.
doi: 10.1016/j.jaci.2010.06.029 pubmed: 20816194
Wu J, Chen J, Tian ZQ, Zhang H, Gong RL, Chen TX, et al. Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review. J Clin Immunol. 2017;37(2):166–79.
doi: 10.1007/s10875-017-0369-7 pubmed: 28197791
Biggs CM, Keles S, Chatila TA. DOCK8 deficiency: Insights into pathophysiology, clinical features and management. Clin Immunol. 2017;181:75–82.
doi: 10.1016/j.clim.2017.06.003 pubmed: 28625885 pmcid: 5555255
Sanal O, Jing H, Ozgur T, Ayvaz D, Strauss-Albee DM, Ersoy-Evans S, et al. Additional diverse findings expand the clinical presentation of DOCK8 deficiency. J Clin Immunol. 2012;32(4):698–708.
doi: 10.1007/s10875-012-9664-5 pubmed: 22476911 pmcid: 3732775

Auteurs

Nurhan Kasap (N)

Division of Pediatric Allergy/Immunology, Faculty of Medicine, Pediatric Allergy and Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey.
Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey.
The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.

Altan Kara (A)

TUBITAK Marmara Research Center, Gene Engineering and Biotechnology Institute, Gebze, Turkey.

Velat Celik (V)

Faculty of Medicine, Pediatric Allergy and Immunology, Trakya University, Edirne, Turkey.

Sevgi Bilgic Eltan (S)

Division of Pediatric Allergy/Immunology, Faculty of Medicine, Pediatric Allergy and Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey.
Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey.
The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.

Idil Akay Haci (I)

Department of Pediatric Allergy and Immunology, Dr Behçet Uz Children's Hospital, Izmir, Turkey.

Hulya Kose (H)

Department of Pediatric Immunology and Rheumatology, Medical Faculty, Uludag University, Bursa, Turkey.

Ayse Aygun (A)

Department of Pediatrics, Division of Immunology, Faculty of Medicine, Ege University, Izmir, Turkey.

Emre Akkelle (E)

Pediatric Allergy and Immunology Department, Sancaktepe Training and Research Hospital, Istanbul, Turkey.

Nalan Yakici (N)

Pediatric Allergy and Immunology Department, Faculty of Medicine, Karadeniz Teknik University, Trabzon, Turkey.

Sukru Nail Guner (SN)

Division of Pediatric Allergy and Immunology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.

Ismail Reisli (I)

Division of Pediatric Allergy and Immunology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.

Sevgi Keles (S)

Division of Pediatric Allergy and Immunology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.

Sukru Cekic (S)

Department of Pediatric Immunology and Rheumatology, Medical Faculty, Uludag University, Bursa, Turkey.

Sara Sebnem Kilic (SS)

Department of Pediatric Immunology and Rheumatology, Medical Faculty, Uludag University, Bursa, Turkey.

Neslihan Edeer Karaca (NE)

Department of Pediatrics, Division of Immunology, Faculty of Medicine, Ege University, Izmir, Turkey.

Nesrin Gulez (N)

Department of Pediatric Allergy and Immunology, Dr Behçet Uz Children's Hospital, Izmir, Turkey.

Ferah Genel (F)

Department of Pediatric Allergy and Immunology, Dr Behçet Uz Children's Hospital, Izmir, Turkey.

Ahmet Ozen (A)

Division of Pediatric Allergy/Immunology, Faculty of Medicine, Pediatric Allergy and Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey.
Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey.
The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.

Ayse Deniz Yucelten (AD)

Department of Dermatology, Faculty of Medicine, Marmara University, Istanbul, Turkey.

Elif Karakoc-Aydiner (E)

Division of Pediatric Allergy/Immunology, Faculty of Medicine, Pediatric Allergy and Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey.
Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey.
The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.

Klaus Schmitz-Abe (K)

Division of Immunology, Boston Children's Hospital, Boston, MA, USA.
Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.

Safa Baris (S)

Division of Pediatric Allergy/Immunology, Faculty of Medicine, Pediatric Allergy and Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey. safabaris@hotmail.com.
Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey. safabaris@hotmail.com.
The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey. safabaris@hotmail.com.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH