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The Human GP130 Cytokine Receptor and Its Expression-an Atlas and Functional Taxonomy of Genetic Variants.
Chen YH, van Zon S, Adams A, Schmidt-Arras D, Laurence ADJ, Uhlig HH. Chen YH, et al. J Clin Immunol. 2023 Dec 22;44(1):30. doi: 10.1007/s10875-023-01603-7. J Clin Immunol. 2023. PMID: 38133879 Free PMC article. Review.
Our taxonomy highlights IL6ST as a gene with particularly strong functional and phenotypic diversity due to the combinatorial biology of the IL-6 cytokine family and predicts additional genotype-phenotype associations....
Our taxonomy highlights IL6ST as a gene with particularly strong functional and phenotypic diversity due to the combinatorial biology of the …
Treatment options for DOCK8 deficiency-related severe dermatitis.
Ollech A, Mashiah J, Lev A, Simon AJ, Somech R, Adam E, Barzilai A, Hagin D, Greenberger S. Ollech A, et al. J Dermatol. 2021 Sep;48(9):1386-1393. doi: 10.1111/1346-8138.15955. Epub 2021 May 27. J Dermatol. 2021. PMID: 34043252
Collected data included: demographic features, family history, laboratory, genetic testing, skin manifestations, treatment, and disease course. Description of two cases of severe recalcitrant dermatitis treated with dupilumab is detailed. ...
Collected data included: demographic features, family history, laboratory, genetic testing, skin manifestations, treatment, and disease c …
Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation.
Gatz SA, Benninghoff U, Schütz C, Schulz A, Hönig M, Pannicke U, Holzmann KH, Schwarz K, Friedrich W. Gatz SA, et al. Bone Marrow Transplant. 2011 Apr;46(4):552-6. doi: 10.1038/bmt.2010.169. Epub 2010 Jul 12. Bone Marrow Transplant. 2011. PMID: 20622910
Both patients developed stable, full donor cell chimerism, with the exception of persistent low-IgA serum levels and the exception of normal immune functions. Over the course of several months, cutaneous manifestations of viral disease resolved completely and both patients …
Both patients developed stable, full donor cell chimerism, with the exception of persistent low-IgA serum levels and the exception of normal …
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.
Engelhardt KR, Gertz ME, Keles S, Schäffer AA, Sigmund EC, Glocker C, Saghafi S, Pourpak Z, Ceja R, Sassi A, Graham LE, Massaad MJ, Mellouli F, Ben-Mustapha I, Khemiri M, Kilic SS, Etzioni A, Freeman AF, Thiel J, Schulze I, Al-Herz W, Metin A, Sanal Ö, Tezcan I, Yeganeh M, Niehues T, Dueckers G, Weinspach S, Patiroglu T, Unal E, Dasouki M, Yilmaz M, Genel F, Aytekin C, Kutukculer N, Somer A, Kilic M, Reisli I, Camcioglu Y, Gennery AR, Cant AJ, Jones A, Gaspar BH, Arkwright PD, Pietrogrande MC, Baz Z, Al-Tamemi S, Lougaris V, Lefranc G, Megarbane A, Boutros J, Galal N, Bejaoui M, Barbouche MR, Geha RS, Chatila TA, Grimbacher B. Engelhardt KR, et al. J Allergy Clin Immunol. 2015 Aug;136(2):402-12. doi: 10.1016/j.jaci.2014.12.1945. Epub 2015 Feb 25. J Allergy Clin Immunol. 2015. PMID: 25724123 Free PMC article.
Recognizing patients with CID/HIES is of clinical importance because of the difference in prognosis and management. OBJECTIVES: We sought to define the clinical features that distinguish DOCK8 deficiency from other forms of HIES and CIDs, study the mutational spectrum of D …
Recognizing patients with CID/HIES is of clinical importance because of the difference in prognosis and management. OBJECTIVES: We so …
DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.
Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, Kostyuchenko L, Genel F, Kütükcüler N, Karaca N, Gonzalez-Granado L, Abbott J, Al-Zahrani D, Rezaei N, Baz Z, Thiel J, Ehl S, Marodi L, Orange JS, Sawalle-Belohradsky J, Keles S, Holland SM, Sanal Ö, Ayvaz DC, Tezcan I, Al-Mousa H, Alsum Z, Hawwari A, Metin A, Matthes-Martin S, Hönig M, Schulz A, Picard C, Barlogis V, Gennery A, Ifversen M, van Montfrans J, Kuijpers T, Bredius R, Dückers G, Al-Herz W, Pai SY, Geha R, Notheis G, Schwarze CP, Tavil B, Azik F, Bienemann K, Grimbacher B, Heinz V, Gaspar HB, Aydin R, Hagl B, Gathmann B, Belohradsky BH, Ochs HD, Chatila T, Renner ED, Su H, Freeman AF, Engelhardt K, Albert MH; inborn errors working party of EBMT. Aydin SE, et al. J Clin Immunol. 2015 Feb;35(2):189-98. doi: 10.1007/s10875-014-0126-0. Epub 2015 Jan 28. J Clin Immunol. 2015. PMID: 25627830
Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and optimal therapeutic management have not yet been clearly defined. ...This study provides a comp …
Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined immunodeficiency (CID). However, the natural course …
Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients.
Alsum Z, Hawwari A, Alsmadi O, Al-Hissi S, Borrero E, Abu-Staiteh A, Khalak HG, Wakil S, Eldali AM, Arnaout R, Al-Ghonaium A, Al-Muhsen S, Al-Dhekri H, Al-Saud B, Al-Mousa H. Alsum Z, et al. J Clin Immunol. 2013 Jan;33(1):55-67. doi: 10.1007/s10875-012-9769-x. Epub 2012 Sep 12. J Clin Immunol. 2013. PMID: 22968740
The available data might improve our understanding of the disease pathogenesis and prognosis. METHODS: Clinical data of twenty-five patients diagnosed with AR-HIES were collected. ...Twelve patients died with a median age of 10 years. CMV infection was the only statistical …
The available data might improve our understanding of the disease pathogenesis and prognosis. METHODS: Clinical data of twenty-five p …
Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome.
Aghebati-Maleki A, Shahani T, Momen T, Alyasin S, Changi-Ashtiani M, Biglari A, Shahrooei M, Javanian AS, Amini S, Bossuyt X, Rokni-Zadeh H. Aghebati-Maleki A, et al. Iran J Allergy Asthma Immunol. 2020 Apr 16;19(2):193-199. doi: 10.18502/ijaai.v19i2.2772. Iran J Allergy Asthma Immunol. 2020. PMID: 32372632 Free article.
Acquired factor VIII deficiency associated with a novel primary immunodeficiency suggestive of autosomal recessive hyper IgE syndrome.
Ozgur TT, Asal GT, Gurgey A, Tezcan I, Ersoy F, Sanal O. Ozgur TT, et al. J Pediatr Hematol Oncol. 2007 May;29(5):327-9. doi: 10.1097/MPH.0b013e318059c236. J Pediatr Hematol Oncol. 2007. PMID: 17483712
Long-term and close follow-up is needed to observe the long-term prognosis in this child....
Long-term and close follow-up is needed to observe the long-term prognosis in this child....