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DOCK8 #66

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pnrobinson opened this issue Jan 14, 2024 · 2 comments
Open

DOCK8 #66

pnrobinson opened this issue Jan 14, 2024 · 2 comments
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@pnrobinson
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  • Alroqi FJ, DOCK8 Deficiency Presenting as an IPEX-Like Disorder. J Clin Immunol. 2017 Nov;37(8):811-819.
  • Zhang Q, Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009 Nov 19;361(21):2046-55.
  • Momtazmanesh S, . Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients. Endocr Metab Immune Disord Drug Targets. 2022;22(1):159-168.
  • Aydin SE, DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol. 2015 Feb;35(2):189-98.
  • Ben Yakov G, Cryptosporidium infection in dedicator of cytokinesis 8 (DOCK 8) deficiency. J Allergy Clin Immunol Pract. 2020 Nov-Dec;8(10):3663-3666.e1.
@pnrobinson
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pnrobinson commented Jan 14, 2024

Need access to Momtazmanesh S, . Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients. Endocr Metab Immune Disord Drug Targets. 2022;22(1):159-168. and to Aydin SE, DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol. 2015 Feb;35(2):189-98.

@pnrobinson
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Yakov -- six individuals presented but scant clinical details, not suitable for phenopacket approach.

@ielis ielis added the curation label Jul 25, 2024
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