# Síndrome de hiper IgE

> Página oficial: https://raras.org/doenca/sindrome-de-hiper-ige
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 331223 — https://www.orpha.net/en/disease/detail/331223
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Uma condição caracterizada por níveis elevados de IgE no sangue, inflamação da pele e infecções respiratórias.

## Epidemiologia e herança


## Sinais e sintomas (301 fenótipos HPO)

- **Descamacão palmoplantar** — HPO: HP:0025819
- **Xantelasma** — HPO: HP:0001114
- **Erupção atrasada dos dentes** — HPO: HP:0000684
- **Fissura palatina** — HPO: HP:0000175
- **Atelectasia** — HPO: HP:0100750
- **Linfoma** — HPO: HP:0002665
- **Dilatação** — HPO: HP:0002617
- **Febre** — HPO: HP:0001945
- **Infecção oportunista** — HPO: HP:0031690
- **Tosse** — HPO: HP:0012735
- **Unhas distróficas** — HPO: HP:0008391
- **Paroníquia** — HPO: HP:0001818
- **Olho profundamente inserido** — HPO: HP:0000490
- **Ponte nasal ampla** — HPO: HP:0000431
- **Anormalidade generalizada da pele** — HPO: HP:0011354
- **Vesícula cutânea** — HPO: HP:0200037
- **Malformação de Chiari tipo I** — HPO: HP:0007099
- **Dentinogênese imperfeita** — HPO: HP:0000703
- **Assimetria facial** — HPO: HP:0000324
- **Anormalidade da face** — HPO: HP:0000271
- **Gengivite** — HPO: HP:0000230
- **Contagem total de linfócitos T diminuída** — HPO: HP:0005403
- **Carcinoma escamoso do canal anal** — HPO: HP:0006763
- **Contagem total de linfócitos B diminuída** — HPO: HP:0010976
- **Carcinoma de células escamosas da vulva** — HPO: HP:0030417
- **Verrugas** — HPO: HP:0200043
- **Infecções bacterianas cutâneas recorrentes** — HPO: HP:0005406
- **Infecções recorrentes por Candida** — HPO: HP:0005401
- **Úlcera cutânea** — HPO: HP:0200042
- **Otite média crônica** — HPO: HP:0000389
- **Onicomicose** — HPO: HP:0012203
- **Eosinofilia gastrointestinal** — HPO: HP:0032064
- **Apinhamento dentário** — HPO: HP:0000678
- **Baqueteamento digital** — HPO: HP:0001217
- **Atraso do neurodesenvolvimento** — HPO: HP:0012758
- **Hidronefrose** — HPO: HP:0000126
- **Hiperpigmentação irregular** — HPO: HP:0007400
- **Enfisema** — HPO: HP:0002097
- **Macroglossia** — HPO: HP:0000158
- **Artropatia** — HPO: HP:0003040
- _...e mais 261 sintomas. Ver https://raras.org/doenca/sindrome-de-hiper-ige._

## Genes associados (8)

- **ZNF341** — Zinc finger protein 341 [Disease-causing germline mutation(s) in]
  - Função: Transcriptional activator of STAT3 involved in the regulation of immune homeostasis. Also able to activate STAT1 transcription
- **ERBIN** — Erbin [Candidate gene tested in]
  - Função: Acts as an adapter for the receptor ERBB2, in epithelia. By binding the unphosphorylated 'Tyr-1248' of receptor ERBB2, it may contribute to stabilize this unphosphorylated state (PubMed:16203728). Inh
- **IL6R** — Interleukin-6 receptor subunit alpha [Disease-causing germline mutation(s) in]
  - Função: Part of the receptor for interleukin 6. Binds to IL6 with low affinity, but does not transduce a signal (PubMed:28265003). Signal activation necessitate an association with IL6ST. Activation leads to
- **DOCK8** — Dedicator of cytokinesis protein 8 [Disease-causing germline mutation(s) in]
  - Função: Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP (PubMed:22461490, PubMed:28028151). During immune responses, required for
- **IL6ST** — Interleukin-6 receptor subunit beta [Disease-causing germline mutation(s) in]
  - Função: Signal-transducing molecule (PubMed:2261637). The receptor systems for IL6, LIF, OSM, CNTF, IL11, CTF1 and BSF3 can utilize IL6ST for initiating signal transmission. Binding of IL6 to IL6R induces IL6
- **STAT6** — Signal transducer and activator of transcription 6 [Disease-causing germline mutation(s) in]
  - Função: Carries out a dual function: signal transduction and activation of transcription. Involved in IL4/interleukin-4- and IL3/interleukin-3-mediated signaling
- **STAT3** — Signal transducer and activator of transcription 3 [Disease-causing germline mutation(s) in]
  - Função: Signal transducer and transcription activator that mediates cellular responses to interleukins, KITLG/SCF, LEP and other growth factors (PubMed:10688651, PubMed:12359225, PubMed:12873986, PubMed:15194
- **SPINK5** — Serine protease inhibitor Kazal-type 5 [Disease-causing germline mutation(s) in]
  - Função: Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by

## Medicamentos em desenvolvimento (4)

- ADALIMUMAB — Fase Phase 2 (TNF-alpha inhibitor)
- SPESOLIMAB — Fase Phase 2 (IL36 receptor antagonist)
- DUPILUMAB — Fase Phase 2 (Interleukin-4 receptor subunit alpha antagonist)
- PIMECROLIMUS — Fase Phase 1 (FK506-binding protein 1A inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0018037

## Ensaios clínicos ativos (2)

- **NCT07262983** [RECRUITING]: Evaluating the Safety and Tolerability of Baricitinib in Patients With Job Syndrome With Lupus-Like Disease and/or Atopic Dermatitis — https://clinicaltrials.gov/study/NCT07262983
- **NCT01852370** [ENROLLING_BY_INVITATION]: Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases — https://clinicaltrials.gov/study/NCT01852370
- **NCT04897113** [UNKNOWN]: Study of Efficacy and Safety of the Plasmapheresis Method With Albumin Compensation Compared With the Plasmapheresis Method Without Albumin Compensation for Aging Biomarkers Correction in Men and Women Aged 40 to 55 Years Old — https://clinicaltrials.gov/study/NCT04897113
- **NCT02996448** [TERMINATED]: Safety, Tolerability, and Immunogenicity of One Dose of NDV 3A Vaccine in People With STAT3-Mutated Hyper-IgE Syndrome — https://clinicaltrials.gov/study/NCT02996448
- **NCT00260702** [COMPLETED]: Omalizumab to Treat Hyper-IgE (Job's) Syndrome — https://clinicaltrials.gov/study/NCT00260702
- **NCT00527878** [TERMINATED]: Effect of Ranitidine on Hyper-IgE Recurrent Infection (Job's) Syndrome — https://clinicaltrials.gov/study/NCT00527878

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome Netherton](https://raras.org/doenca/sindrome-netherton) — ORPHA:634 — 156 sintomas em comum
- [Síndrome de hiper-IgE autossômica dominante por deficiência de STAT3](https://raras.org/doenca/sindrome-de-hiper-ige-autossomica-dominante-por-deficiencia-de-stat3) — ORPHA:2314 — 85 sintomas em comum
- [Agamaglobulinemia sindromática](https://raras.org/doenca/agamaglobulinemia-sindromatica) — ORPHA:229720 — 53 sintomas em comum
- [Imunodeficiência combinada grave T-B+](https://raras.org/doenca/imunodeficiencia-combinada-grave-t-b-orpha-317416) — ORPHA:317416 — 52 sintomas em comum
- [Síndrome linfoproliferativo autoimune](https://raras.org/doenca/sindrome-linfoproliferativo-autoimune) — ORPHA:3261 — 49 sintomas em comum
- [Imunodeficiência combinada por deficiência de DOCK8](https://raras.org/doenca/imunodeficiencia-combinada-por-deficiencia-de-dock8) — ORPHA:217390 — 49 sintomas em comum
- [Síndrome cardio-facio-cutâneo](https://raras.org/doenca/sindrome-cardio-facio-cutaneo) — ORPHA:1340 — 48 sintomas em comum
- [Enteropatia grave imunomediada](https://raras.org/doenca/enteropatia-grave-imunomediada) — ORPHA:94075 — 48 sintomas em comum
- [Disqueratose congênita](https://raras.org/doenca/disqueratose-congenita) — ORPHA:1775 — 47 sintomas em comum
- [Candidíase mucocutânea crônica](https://raras.org/doenca/candidiase-mucocutanea-cronica) — ORPHA:1334 — 47 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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**Citação sugerida**: Raras.org — Síndrome de hiper IgE. Disponível em: https://raras.org/doenca/sindrome-de-hiper-ige
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