Hyper-ige Recurrent Infection Syndrome, Autosomal Dominant

Description

Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

Clinical Features

Top most frequent phenotypes and symptoms related to Hyper-ige Recurrent Infection Syndrome, Autosomal Dominant

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • High palate
  • Wide nasal bridge
  • Tics
  • Frontal bossing
  • Fever
  • Dysphagia
  • Abnormality of the dentition
And another 58 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Hyper-ige Recurrent Infection Syndrome, Autosomal Dominant have a estimated incidence of 0.1 per 100k worldwide.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Hyper-ige Recurrent Infection Syndrome, Autosomal Dominant Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

INVS, FBLN5, ELN, DTNBP1, RPGR, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Hyper IgE Syndrome (HIES): STAT3 (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

STAT3
Specificity
100 %
Genes
100 %
Hyper IgE Syndrome (HIES): STAT3 (known mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

STAT3
Specificity
100 %
Genes
100 %
STAT3 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

STAT3
Specificity
100 %
Genes
100 %
STAT3 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

STAT3
Specificity
100 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel.

By Genetic Services Laboratory University of Chicago in United States.

NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
PulmoGene Panel (64 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

FBLN5, RET, ELN, DTNBP1, RPGR, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, HRAS, TSC2, TSC1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
STAT3 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

STAT3
Specificity
100 %
Genes
100 %
STAT3. Detection of the mutations c.1144C>T ( p.Arg382Trp), c.1145G>A ( p.Arg382Gln), c.1268G>A (p.Arg423Gln), c.1387_1389delGTG (p.Val463del) and c.1909G>A (p.Val637Met) by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

STAT3
Specificity
100 %
Genes
100 %
STAT3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

STAT3
Specificity
100 %
Genes
100 %
Humoral dysfunction Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STAT1, UNG, STAT3, IKBKG, GATA2, BTK, SH2D1A, IKZF1, AICDA, CD40LG, XIAP, CXCR4, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, ADA2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Humoral dysfunction Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STAT1, UNG, STAT3, IKBKG, GATA2, BTK, SH2D1A, IKZF1, AICDA, CD40LG, XIAP, CXCR4, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, ADA2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Humoral dysfunction Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STAT1, UNG, STAT3, IKBKG, GATA2, BTK, SH2D1A, IKZF1, AICDA, CD40LG, XIAP, CXCR4, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, ADA2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Autosomal Dominant Hyper IgE Syndrome (sequence analysis of STAT3 gene).

By CGC Genetics in Portugal.

STAT3
Specificity
100 %
Genes
100 %
Hyper-IgE syndrome (deletion/duplication analysis of STAT3 gene).

By CGC Genetics in Portugal.

STAT3
Specificity
100 %
Genes
100 %
Hyper IgE Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

STAT3, DOCK8, TYK2, PGM3, SPINK5
Specificity
20 %
Genes
100 %
Autosomal Dominant Hyper IgE Syndrome via the STAT3 Gene.

By PreventionGenetics PreventionGenetics in United States.

STAT3
Specificity
100 %
Genes
100 %
Interstitial Lung Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SMPD1, HPS1, HPS4, STAT3, CFTR, TINF2, TSC2, TSC1, FLCN, SLC7A7, RTEL1, NF1, DKC1, TERC, TERT, PARN, CSF2RB, NKX2-1, ABCA3, SFTPC , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CASP8, STAT3, KRAS, NRAS, MAGT1, SH2D1A, FAS, XIAP, FASLG, CASP10, ITK, PIK3CD, LRBA, FADD, CTLA4, PRKCD
Specificity
7 %
Genes
100 %
STAT3 gene.

By Immunology Diagnostics Laboratory Seattle Children's Research Institute in United States.

STAT3
Specificity
100 %
Genes
100 %
STAT3.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

STAT3
Specificity
100 %
Genes
100 %
HIES syndromes panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

STAT3, DOCK8, TYK2
Specificity
34 %
Genes
100 %
Hyper-IgE recurrent infection syndrome.

By Centogene AG - the Rare Disease Company in Germany.

STAT3
Specificity
100 %
Genes
100 %
Comprehensive pulmonary disease panel.

By Centogene AG - the Rare Disease Company in Germany.

FBLN5, RET, ELN, DTNBP1, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
Syndromes with immunodeficiency Panel.

By CeGaT GmbH in Germany.

PMS2, STAT3, BLM, RMRP, RUNX2, TINF2, FGFR2, ATM, MRE11, NBN, WAS, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, NLRP3, DKC1, TERC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Single gene testing STAT3.

By CeGaT GmbH in Germany.

STAT3
Specificity
100 %
Genes
100 %
Job Syndrome.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

STAT3
Specificity
100 %
Genes
100 %
Autosomal Dominant Hyper IgE Syndrome, STAT3.

By GGA - Galil Genetic Analysis in Israel.

STAT3
Specificity
100 %
Genes
100 %
STAT3 SH2 and DNA Binding Sequencing.

By Advanced Diagnostic Laboratories (ADx) National Jewish Health in United States.

STAT3
Specificity
100 %
Genes
100 %
Hyper-IgE Syndrome.

By Praxis fuer Humangenetik Wien in Austria.

STAT3
Specificity
100 %
Genes
100 %
Hyperimmunoglobulin E syndrome.

By Department of Clinical Immunology Odense University Hospital in Denmark.

STAT3
Specificity
100 %
Genes
100 %
Hyper-IgE Syndrome.

By MedGene in Slovakia.

STAT3
Specificity
100 %
Genes
100 %
Invitae Hyper IgE Syndrome Panel.

By Invitae in United States.

STAT3, DOCK8, PGM3, SPINK5
Specificity
25 %
Genes
100 %
Invitae Common Variable Immunodeficiency Panel.

By Invitae in United States.

STAT3, TNFRSF13B, RAC2, PIK3CD, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, TNFRSF13C, PRKCD, PLCG2, IL21, IL21R, TNFSF12
Specificity
6 %
Genes
100 %
Invitae Monogenic Autoimmunity Panel.

By Invitae in United States.

STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae in United States.

STAT1, SLC37A4, CYBA, STAT3, ADA, IL2RG, CYBB, DCLRE1C, RTEL1, WAS, BTK, MVK, FOXP3, DKC1, DOCK8, MEFV, SH2D1A, NCF2, NCF4, STIM1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Invitae Syndromic Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

PMS2, TCN2, STAT3, PNP, CHD7, RMRP, TINF2, ATM, NBN, RTEL1, WAS, TBX1, SEMA3E, DKC1, TERC, TERT, PARN, CTC1, NHP2, NOP10 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Hyper-IgE recurrent infection syndrome: STAT3 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

STAT3
Specificity
100 %
Genes
100 %
Hyper IgE Syndromes: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

STAT3, DOCK8, TYK2, SPINK5
Specificity
25 %
Genes
100 %
Pulmonary Disease: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, RET, ELN, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
Hyper IgE Syndromes: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

STAT3, DOCK8, TYK2, SPINK5
Specificity
25 %
Genes
100 %
STAT3.

By Fulgent Genetics Fulgent Genetics in United States.

STAT3
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, STAT1, TAP1, AK2, STAT3, ADA, IL2RG, PNP, BLM, RMRP, ATM, DCLRE1C, RTEL1, WAS, TBX1, MAGT1, UNC119, PARN, DOCK8, SH2D1A , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Comprehensive Pulmonology Panel.

By Blueprint Genetics in Finland.

FBLN5, RET, ELN, SMPD1, MECP2, HPS1, HPS4, CCDC39, CHAT, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B, FLCN, CHRNE, SERPINA1, SLC7A7 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
Interstitial Lung Disease Panel.

By Blueprint Genetics in Finland.

SMPD1, HPS1, HPS4, STAT3, TINF2, TSC2, TSC1, SLC7A7, RTEL1, NF1, DKC1, TERC, ELMOD2, TERT, PARN, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Focus::DLBCL&FL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, TP53, STAT3, BRAF, CREBBP, KRAS, ATM, CDKN2A, BTK, KMT2D, MTOR, NOTCH1, EZH2, ARID1A, EP300, TET2, MYD88, IKZF1, FAS, PIK3CD , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Focus::Lymphoma™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, TP53, STAT3, BRAF, CREBBP, KRAS, ATM, CDKN2A, BTK, KMT2D, MTOR, NOTCH1, EZH2, ARID1A, EP300, TET2, MYD88, IKZF1, FAS, PIK3CD , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Autosomal dominant hyper IgE syndrome.

By Bioarray in Spain.

STAT3
Specificity
100 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
HYPER-IgE SYNDROME, JOB SYNDROME (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

STAT3
Specificity
100 %
Genes
100 %
Hyper IgE Syndrome (Job Syndrome), Sequencing STAT3 Gene.

By Reference Laboratory Genetics in Spain.

STAT3
Specificity
100 %
Genes
100 %
Hyper IgE Syndrome (Job Syndrome), Deletions-Duplications (MLPA) STAT3 Gene.

By Reference Laboratory Genetics in Spain.

STAT3
Specificity
100 %
Genes
100 %
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes.

By Reference Laboratory Genetics in Spain.

STAT1, TGFB1, STAT3, IKBKG, GATA2, DCLRE1C, BTK, SH2D1A, TNFRSF13B, AICDA, CD40, CD40LG, RAG2, RAG1, AKT1, CXCR4, PIK3CD, NFKBIA, CTLA4, IL17F , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Hyperimmunoglobulin E syndrome.

By Labor Dr. Wisplinghoff in Germany.

STAT3
Specificity
100 %
Genes
100 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

Alternate names

Hyper-ige Recurrent Infection Syndrome, Autosomal Dominant Is also known as hyper-ige syndrome, autosomal dominant, hies, autosomal dominant, job syndrome;ad-hies; autosomal dominant hies; autosomal dominant hyperimmunoglobulin e syndrome; buckley syndrome; hyperimmunoglobulin e syndrome type 1; hyperimmunoglobulin e-recurrent infection syndrome; job syndrome; stat3 deficiency.



Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more

Other rare diseases that you may find interesting

OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1 PERMANENT NEONATAL DIABETES MELLITUS HYPOPLASTIC LEFT HEART SYNDROME 2; HLHS2 NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY