Immune Dysregulation-polyendocrinopathy-enteropathy-x-linked Syndrome

Description

Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

Clinical Features

Top most frequent phenotypes and symptoms related to Immune Dysregulation-polyendocrinopathy-enteropathy-x-linked Syndrome

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Diabetes mellitus
  • Hypothyroidism

And another 28 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Immune Dysregulation-polyendocrinopathy-enteropathy-x-linked Syndrome Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy, ipex, autoimmune enteropathy type 1, iddm-secretory diarrhea syndrome, x-linked autoimmunity-allergic dysregulation syndrome, polyendocrinopathy, immune dysfunction, and diarrhea, x-linked, .

Researches and researchers

Doctors, researchs, and experts related to Immune Dysregulation-polyendocrinopathy-enteropathy-x-linked Syndrome extracted from public data.

Immune Dysregulation-polyendocrinopathy-enteropathy-x-linked Syndrome Experts map



Current Researchs and researchers

  • FREIBURG — Pr Stephan EHL

    Coordinator of expert centre - Clinical expert - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Universitätsklinikum Freiburg
      — CCI am Universitätsklinikum Freiburg
    • Research area/topic::

      A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)


  • FREIBURG — Dr Carsten SPECKMANN

    Clinical expert - Investigator of research project

    • Institution/s:
      — Universitätsklinikum Freiburg
      — CCI am Universitätsklinikum Freiburg
    • Research area/topic::

      A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)


  • FIRENZE — Dr Eleonora GAMBINERI

    Investigator of research project

    • Institution/s:
      — Azienda Ospedaliera Universitaria Anna Meyer
    • Research area/topic::

      Molecular and functional investigation of genes involved in IPEX/IPEX-like syndrome and in immune disregolulation


  • FIRENZE — Dr Marina VIGNOLI

    Investigator of research project

    • Institution/s:
      — Azienda Ospedaliera Universitaria Anna Meyer
    • Research area/topic::

      Molecular and functional investigation of genes involved in IPEX/IPEX-like syndrome and in immune disregolulation


  • MILANO — Dr Rosa BACCHETTA

    Investigator of research project

    • Institution/s:
      — Istituto San Raffaele Telethon per la Terapia Genica - TIGET
    • Research area/topic::

      Cell/Gene Transfer in IPEX (Immune dysregulation - polyendocrinopathy - enteropathy, X-linked)


  • ROMA — Pr Caterina CANCRINI

    Investigator of research project

    • Institution/s:
      — IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
    • Research area/topic::

      Study of the pathogenesis of autoimmune phenomena in primary immunodeficiencies



Mendelian

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Immune Dysregulation-polyendocrinopathy-enteropathy-x-linked Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
100 %
Maturity-Onset Diabetes of the Young.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BLK, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, NEUROG3, IER3IP1, RFX6, CP, PTF1A, CISD2, GLIS3, EIF2AK3, AKT2, GATA6, GCK, HNF4A, ABCC8, INS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
FOXP3 Sequencing.

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

FOXP3
Specificity
100 %
Genes
100 %
FOXP3 Deletion/duplication analysis.

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

FOXP3
Specificity
100 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)

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 (United States).

BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
FOXP3 sequencing.

By Genetic Services Laboratory University of Chicago (United States).

FOXP3
Specificity
100 %
Genes
100 %
Comprehensive Neonatal Diabetes Mutation Analysis.

By Genetic Services Laboratory University of Chicago (United States).

ZFP57, EIF2AK3, GATA4, GATA6, GCK, MNX1, HYMAI, ABCC8, INS, FOXP3, PDX1, KCNJ11, NKX2-2, PLAGL1
Specificity
8 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Symptoms Checker

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