Type	Entity	Source evidence	Confidence	Extractor
gene	DOCK8	“Considering the interaction of WASp with DOCK8-WIP in lymphocytes and the critical role of DOCK8 in regulating STAT3 phosphorylation following IL-6 stimulation, we analyzed DOCK8 expression in lymphoblastoid cell lines.”	0.98	hgnc_dict_v1
phenotype	atopic dermatitis	“In addition to microthrombocytopenia, affected individuals often present with recurrent infections, eczema, eosinophilia and elevated IgE levels, suggesting a potential pathophysiological overlap with STAT3 hyper-IgE syndrome (HIES).”	0.93	phenotype_alias_lexicon_v2
gene	STAT3	“Immunogenetic investigation of WAS patients revealing impaired IL-6/STAT3 signaling in T cells.”	0.98	hgnc_dict_v1
gene	SOCS3	“Interestingly, all WAS patients showed impaired STAT3 phosphorylation in T cells following IL-6 stimulation and SOCS3 induction was markedly decreased.”	0.98	hgnc_dict_v1

Dupilumab for atopic manifestations in pediatric patients with inborn errors of immunity: efficacy and safety in a genetically diverse cohort.

PMID 41357247 | PMCID PMC12678239 | DOI 10.3389/fimmu.2025.1715919 · Frontiers in immunology · 2025 · 7 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	DOCK8	“Severe Th2-driven atopic dermatitis and asthma are common in several IEIs, including DOCK8 deficiency, STAT3 loss-of-function, and Wiskott-Aldrich syndrome, often refractory to conventional therapies.”	0.98	hgnc_dict_v1
phenotype	atopic dermatitis	“Severe Th2-driven atopic dermatitis and asthma are common in several IEIs, including DOCK8 deficiency, STAT3 loss-of-function, and Wiskott-Aldrich syndrome, often refractory to conventional therapies.”	0.98	phenotype_alias_lexicon_v2
gene	STAT3	“Severe Th2-driven atopic dermatitis and asthma are common in several IEIs, including DOCK8 deficiency, STAT3 loss-of-function, and Wiskott-Aldrich syndrome, often refractory to conventional therapies.”	0.98	hgnc_dict_v1
gene	CARD11	“RESULTS: The cohort included ten patients (6 males, 4 females) with mutations in DOCK8 (n=5), CARD11 (n=2), STAT3 LOF (n=1), ADA (n=1), and PEPD (n=1).”	0.98	hgnc_dict_v1

Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiency.

PMID 38185418 | DOI 10.1016/j.jaci.2023.12.020 · The Journal of allergy and clinical immunology · 2024 · 3 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	DOCK8	“Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiency.”	0.98	hgnc_dict_v1
phenotype	atopic dermatitis	“Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiency.”	0.93	phenotype_alias_lexicon_v2
gene	FOXP3	“Unlike in AD, DOCK8-deficient patients had a reduced FOXP3:CD4 ratio in their skin lesions, and their skin barrier function was intrinsically intact.”	0.98	hgnc_dict_v1

Diagnostic challenge in a series of eleven patients with hyper IgE syndromes.

PMID 36703986 | PMCID PMC9871884 | DOI 10.3389/fimmu.2022.1057679 · Frontiers in immunology · 2022 · 3 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	DOCK8	“Although Dedicator of Cytokinesis 8 (DOCK8) deficiency is no more classified among HIES etiologies but as a combined immunodeficiency, this disease, characterized by severe viral infections, food allergies, autoimmunity, and increased risk of malignancies, shares some clinical features with STAT3 deficiency.”	0.98	hgnc_dict_v1
phenotype	atopic dermatitis	“Hyper IgE syndromes (HIES) is a heterogeneous group of Inborn Errors of Immunity characterized by eczema, recurrent skin and lung infections associated with eosinophilia and elevated IgE levels.”	0.93	phenotype_alias_lexicon_v2
gene	STAT3	“Autosomal dominant HIES caused by loss of function mutations in Signal transducer and activator of transcription 3 (STAT3) gene is the prototype of these disorders.”	0.98	hgnc_dict_v1

Proteomics Profiling to Distinguish DOCK8 Deficiency From Atopic Dermatitis.

PMID 35386989 | PMCID PMC8974780 | DOI 10.3389/falgy.2021.774902 · Frontiers in allergy · 2021 · 2 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	DOCK8	“Proteomics Profiling to Distinguish DOCK8 Deficiency From Atopic Dermatitis.”	0.98	hgnc_dict_v1
phenotype	atopic dermatitis	“Proteomics Profiling to Distinguish DOCK8 Deficiency From Atopic Dermatitis.”	0.98	phenotype_alias_lexicon_v2

Quantitative profiling of cytokines and chemokines in DOCK8-deficient and atopic dermatitis patients.

PMID 30252138 | DOI 10.1111/all.13610 · Allergy · 2019 · 4 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	DOCK8	“Deficiency of DOCK8 protein is potentially a life-threatening autosomal recessive HIES and only curable with bone marrow transplantation.”	0.98	hgnc_dict_v1
phenotype	atopic dermatitis	“Quantitative profiling of cytokines and chemokines in DOCK8-deficient and atopic dermatitis patients.”	0.98	phenotype_alias_lexicon_v2
gene	CXCL10	“RESULTS: CXCL10 and TNF-A were upregulated in DOCK8 patients when compared to AD, possibly contributing toward increased susceptibility to infections and cancer.”	0.98	hgnc_dict_v1
gene	EGF	“In contrast, epidermal growth factor (EGF) was significantly downregulated in a subgroup of DOCK8-deficient and AD patients, while IL-31 expression was comparable between both DOCK8-deficient and AD cohorts, possibly contributing toward pruritus seen in both groups.”	0.98	hgnc_dict_v1

Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency.

PMID 30391550 | PMCID PMC6771433 | DOI 10.1016/j.jaip.2018.10.035 · The journal of allergy and clinical immunology. In practice · 2019 · 3 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	DOCK8	“Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency.”	0.98	hgnc_dict_v1
phenotype	atopic dermatitis	“BACKGROUND: Biallelic variations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency with eczema, recurrent bacterial and viral infections, and malignancy.”	0.93	phenotype_alias_lexicon_v2
phenotype	lymphoma	“Causes of death were infections (n = 5), graft versus host disease (5), multiorgan failure (2), and preexistent lymphoma (1).”	0.98	phenotype_alias_lexicon_v2

Metabolomics Distinguishes DOCK8 Deficiency from Atopic Dermatitis: Towards a Biomarker Discovery.

PMID 31718082 | PMCID PMC6918408 | DOI 10.3390/metabo9110274 · Metabolites · 2019 · 2 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	DOCK8	“Metabolomics Distinguishes DOCK8 Deficiency from Atopic Dermatitis: Towards a Biomarker Discovery.”	0.98	hgnc_dict_v1
phenotype	atopic dermatitis	“Metabolomics Distinguishes DOCK8 Deficiency from Atopic Dermatitis: Towards a Biomarker Discovery.”	0.98	phenotype_alias_lexicon_v2

DOCK8 Deficiency Presenting as an IPEX-Like Disorder.

PMID 29058101 | PMCID PMC5691358 | DOI 10.1007/s10875-017-0451-1 · Journal of clinical immunology · 2017 · 3 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	DOCK8	“DOCK8 Deficiency Presenting as an IPEX-Like Disorder.”	0.98	hgnc_dict_v1
phenotype	atopic dermatitis	“PURPOSE: The dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive-combined immunodeficiency whose clinical spectra include recurrent infections, autoimmunity, malignancies, elevated serum IgE, eczema, and food allergies.”	0.93	phenotype_alias_lexicon_v2
variant	c.1498C>T	“Whole-exome sequencing revealed a homozygous nonsense mutation in DOCK8 at the DOCK-homology region (DHR)-1 (c.1498C>T; p.”	0.95	hgvs_regex_v1

CNS vasculitis and stroke as a complication of DOCK8 deficiency: a case report.

PMID 27113444 | PMCID PMC4845487 | DOI 10.1186/s12883-016-0578-3 · BMC neurology · 2016 · 3 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	DOCK8	“CNS vasculitis and stroke as a complication of DOCK8 deficiency: a case report.”	0.98	hgnc_dict_v1
phenotype	atopic dermatitis	“Deletion of the dedicator of cytokinesis 8 (DOCK8) gene is considered to be the autosomal recessive form of hyperimmunoglobulin E syndrome which is a rare type of primary immunodeficiency disease characterized by elevated levels of IgE antibody, eczema, and recurrent staphylococcal infections.”	0.93	phenotype_alias_lexicon_v2
phenotype	stroke	“CNS vasculitis and stroke as a complication of DOCK8 deficiency: a case report.”	0.98	phenotype_alias_lexicon_v2

Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients.

PMID 22968740 | DOI 10.1007/s10875-012-9769-x · Journal of clinical immunology · 2013 · 4 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	DOCK8	“Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients.”	0.98	hgnc_dict_v1
phenotype	atopic dermatitis	“PURPOSE: Autosomal recessive hyper-IgE syndrome is a rare combined immunodeficiency characterized by susceptibility to viral infections, atopic eczema, high serum IgE and defective T cell activation.”	0.93	phenotype_alias_lexicon_v2
gene	TYK2	“Null mutations in DOCK8 and TYK2 are responsible for many cases.”	0.98	hgnc_dict_v1
gene	STAT3	“Seventeen patients screened for STAT3, TYK2 and DOCK8 mutations.”	0.98	hgnc_dict_v1