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Autosomal recessive hyper-IgE syndrome

MedGen UID:
369829
•Concept ID:
C1968689
•
Disease or Syndrome
Synonym: Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
 
Monarch Initiative: MONDO:0957426
OMIM®: 243700

Definition

A condition of decreased or absent presence or activity of dedicator of cytokinesis protein 8. Deficiency of this protein is associated with autosomal recessive hyper-IgE recurrent infection syndrome. [from NCI]

Professional guidelines

PubMed

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
J Dermatol 2021 Sep;48(9):1386-1393. Epub 2021 May 27 doi: 10.1111/1346-8138.15955. PMID: 34043252
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
J Clin Immunol 2015 Feb;35(2):189-98. Epub 2015 Jan 28 doi: 10.1007/s10875-014-0126-0. PMID: 25627830
Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.
Dasouki M, Okonkwo KC, Ray A, Folmsbeel CK, Gozales D, Keles S, Puck JM, Chatila T
Clin Immunol 2011 Nov;141(2):128-32. Epub 2011 Jun 21 doi: 10.1016/j.clim.2011.06.003. PMID: 21763205Free PMC Article

Recent clinical studies

Etiology

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
J Clin Immunol 2023 Dec 22;44(1):30. doi: 10.1007/s10875-023-01603-7. PMID: 38133879Free PMC Article
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
J Dermatol 2021 Sep;48(9):1386-1393. Epub 2021 May 27 doi: 10.1111/1346-8138.15955. PMID: 34043252
ILC3 deficiency and generalized ILC abnormalities in DOCK8-deficient patients.
Eken A, Cansever M, Okus FZ, Erdem S, Nain E, Azizoglu ZB, Haliloglu Y, Karakukcu M, Ozcan A, Devecioglu O, Aksu G, Arikan Ayyildiz Z, Topal E, Karakoc Aydiner E, Kiykim A, Metin A, Cipe F, Kaya A, Artac H, Reisli I, Guner SN, Uygun V, Karasu G, Dönmez Altuntas H, Canatan H, Oukka M, Ozen A, Chatila TA, Keles S, Baris S, Unal E, Patiroglu T
Allergy 2020 Apr;75(4):921-932. Epub 2019 Oct 31 doi: 10.1111/all.14081. PMID: 31596517Free PMC Article
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
Bone Marrow Transplant 2011 Apr;46(4):552-6. Epub 2010 Jul 12 doi: 10.1038/bmt.2010.169. PMID: 20622910
Dedicator of cytokinesis 8 (DOCK8) deficiency.
Su HC
Curr Opin Allergy Clin Immunol 2010 Dec;10(6):515-20. doi: 10.1097/ACI.0b013e32833fd718. PMID: 20864884Free PMC Article

Diagnosis

Inborn errors of immunity: Recent progress.
Seth N, Tuano KS, Chinen J
J Allergy Clin Immunol 2021 Dec;148(6):1442-1450. Epub 2021 Oct 21 doi: 10.1016/j.jaci.2021.10.010. PMID: 34688776
Autosomal recessive hyper-IgE syndrome successfully treated with hematopoietic stem cell transplantation.
Lopes J, Teixeira D, Sousa C, Baptista A, Moreira D, Ferreira EO
Pediatr Dermatol 2019 Sep;36(5):693-696. Epub 2019 Jul 24 doi: 10.1111/pde.13919. PMID: 31338855
An Update on Syndromes with a Hyper-IgE Phenotype.
Bergerson JRE, Freeman AF
Immunol Allergy Clin North Am 2019 Feb;39(1):49-61. doi: 10.1016/j.iac.2018.08.007. PMID: 30466772
The hyperimmunoglobulin E syndrome--clinical manifestation diversity in primary immune deficiency.
Szczawinska-Poplonyk A, Kycler Z, Pietrucha B, Heropolitanska-Pliszka E, Breborowicz A, Gerreth K
Orphanet J Rare Dis 2011 Nov 15;6:76. doi: 10.1186/1750-1172-6-76. PMID: 22085750Free PMC Article
Dedicator of cytokinesis 8 (DOCK8) deficiency.
Su HC
Curr Opin Allergy Clin Immunol 2010 Dec;10(6):515-20. doi: 10.1097/ACI.0b013e32833fd718. PMID: 20864884Free PMC Article

Therapy

Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.
Materna-Kiryluk A, Pollak A, Gawalski K, Szczawinska-Poplonyk A, Rydzynska Z, Sosnowska A, Cukrowska B, Gasperowicz P, Konopka E, Pietrucha B, Grzywa TM, Banaszak-Ziemska M, Niedziela M, Skalska-Sadowska J, Stawiński P, Śladowski D, Nowis D, Ploski R
Hum Mol Genet 2021 Apr 26;30(3-4):226-233. doi: 10.1093/hmg/ddab035. PMID: 33517393
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
J Clin Immunol 2013 Jan;33(1):55-67. Epub 2012 Sep 12 doi: 10.1007/s10875-012-9769-x. PMID: 22968740
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
J Pediatr Hematol Oncol 2007 May;29(5):327-9. doi: 10.1097/MPH.0b013e318059c236. PMID: 17483712

Prognosis

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
J Clin Immunol 2023 Dec 22;44(1):30. doi: 10.1007/s10875-023-01603-7. PMID: 38133879Free PMC Article
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
J Dermatol 2021 Sep;48(9):1386-1393. Epub 2021 May 27 doi: 10.1111/1346-8138.15955. PMID: 34043252
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
J Clin Immunol 2015 Feb;35(2):189-98. Epub 2015 Jan 28 doi: 10.1007/s10875-014-0126-0. PMID: 25627830
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
Bone Marrow Transplant 2011 Apr;46(4):552-6. Epub 2010 Jul 12 doi: 10.1038/bmt.2010.169. PMID: 20622910
Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation.
Bittner TC, Pannicke U, Renner ED, Notheis G, Hoffmann F, Belohradsky BH, Wintergerst U, Hauser M, Klein B, Schwarz K, Schmid I, Albert MH
Klin Padiatr 2010 Nov;222(6):351-5. Epub 2010 Nov 5 doi: 10.1055/s-0030-1265135. PMID: 21058221

Clinical prediction guides

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
J Clin Immunol 2023 Dec 22;44(1):30. doi: 10.1007/s10875-023-01603-7. PMID: 38133879Free PMC Article
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
J Clin Immunol 2015 Feb;35(2):189-98. Epub 2015 Jan 28 doi: 10.1007/s10875-014-0126-0. PMID: 25627830
DOCK8 deficiency.
Su HC, Jing H, Zhang Q
Ann N Y Acad Sci 2011 Dec;1246:26-33. doi: 10.1111/j.1749-6632.2011.06295.x. PMID: 22236427
The hyperimmunoglobulin E syndrome--clinical manifestation diversity in primary immune deficiency.
Szczawinska-Poplonyk A, Kycler Z, Pietrucha B, Heropolitanska-Pliszka E, Breborowicz A, Gerreth K
Orphanet J Rare Dis 2011 Nov 15;6:76. doi: 10.1186/1750-1172-6-76. PMID: 22085750Free PMC Article
Dedicator of cytokinesis 8 (DOCK8) deficiency.
Su HC
Curr Opin Allergy Clin Immunol 2010 Dec;10(6):515-20. doi: 10.1097/ACI.0b013e32833fd718. PMID: 20864884Free PMC Article

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