# Agamaglobulinemia

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

## Identificadores

- **ORPHA**: 183669 — https://www.orpha.net/en/disease/detail/183669
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A diminuição dos níveis de imunoglobulinas no sangue. Pode ser algo genético (de nascença) ou adquirido ao longo da vida. A causa é uma produção menor ou que não funciona bem das imunoglobulinas pelas células B, ou uma quantidade reduzida das próprias células B. Níveis baixos de imunoglobulinas prejudicam a capacidade do sistema de defesa do corpo de combater infecções causadas por bactérias. É necessário fazer a reposição de imunoglobulinas para evitar que o quadro de saúde piore.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 1 000 000

## Sinais e sintomas (287 fenótipos HPO)

- **Síndrome de dermatomiosite enteroviral** — HPO: HP:0003729
- **Aplasia/Hipoplasia do timo** — HPO: HP:0010515
- **Diarreia mucoide** — HPO: HP:0033343
- **Eritema nodoso** — HPO: HP:0012219
- **Aumento do nível circulante de IgM** — HPO: HP:0003496
- **Fraqueza fatigável** — HPO: HP:0003473
- **Infecção grave pelo vírus Epstein-Barr** — HPO: HP:0031693
- **Atraso global do desenvolvimento** — HPO: HP:0001263
- **Contagem total de linfócitos T diminuída** — HPO: HP:0005403
- **Encefalite infecciosa** — HPO: HP:0002383
- **Hepatomegalia** — HPO: HP:0002240
- **Linfadenopatia mediastinal** — HPO: HP:0100721
- **Pneumonia** — HPO: HP:0002090
- **Hipoplasia pulmonar** — HPO: HP:0002089
- **Desidratação** — HPO: HP:0001944
- **Infecções sinopulmonares recorrentes** — HPO: HP:0005425
- **Estenose pilórica** — HPO: HP:0002021
- **Úlcera aftosa** — HPO: HP:0032154
- **Deposição de imunocomplexos mesangiais** — HPO: HP:0033295
- **Lesão psoriasiforme** — HPO: HP:0025526
- **Positividade de autoanticorpos** — HPO: HP:0030057
- **Esplenomegalia** — HPO: HP:0001744
- **Linfoma** — HPO: HP:0002665
- **Imunodeficiência** — HPO: HP:0002721
- **Transitório** — HPO: HP:0025153
- **Arco vertebral fendido** — HPO: HP:0004616
- **Contagem anormal de linfócitos B** — HPO: HP:0010975
- **Retardo do crescimento pós-natal** — HPO: HP:0008897
- **Tronco da anti-hélice proeminente** — HPO: HP:0011240
- **Disfagia** — HPO: HP:0002015
- **Morfologia anormal de linfócitos T** — HPO: HP:0002843
- **Cabelos grosseiros** — HPO: HP:0002208
- **Diferenciação defeituosa de linfócitos B** — HPO: HP:0005357
- **Paraqueratose** — HPO: HP:0001036
- **Aumento do nível circulante de IgE** — HPO: HP:0003212
- **Perda de peso** — HPO: HP:0001824
- **Fadiga** — HPO: HP:0012378
- **Nível diminuído de androgênio circulante** — HPO: HP:0030349
- **Sinusite recorrente** — HPO: HP:0011108
- **Morfologia anormal de linfócitos** — HPO: HP:0004332
- _...e mais 247 sintomas. Ver https://raras.org/doenca/agamaglobulinemia._

## Genes associados (28)

- **ICOS** — Inducible T-cell costimulator [Disease-causing germline mutation(s) in]
  - Função: Stimulatory receptor expressed in activated or antigen-experienced T-cells that plays an important role in the immune response (PubMed:9930702). Upon binding to its ligand ICOSL expressed on antigen p
- **SH3KBP1** — SH3 domain-containing kinase-binding protein 1 [Disease-causing germline mutation(s) in]
  - Função: Adapter protein involved in regulating diverse signal transduction pathways. Involved in the regulation of endocytosis and lysosomal degradation of ligand-induced receptor tyrosine kinases, including
- **PIK3R1** — Phosphatidylinositol 3-kinase regulatory subunit alpha [Disease-causing germline mutation(s) in]
  - Função: Binds to activated (phosphorylated) protein-Tyr kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Necessary for the
- **TNFRSF13C** — Tumor necrosis factor receptor superfamily member 13C [Disease-causing germline mutation(s) in]
  - Função: B-cell receptor specific for TNFSF13B/TALL1/BAFF/BLyS. Promotes the survival of mature B-cells and the B-cell response
- **LRBA** — Lipopolysaccharide-responsive and beige-like anchor protein [Disease-causing germline mutation(s) in]
  - Função: Involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules (By similarity). Involved in phagophore growth du
- **CD79B** — B-cell antigen receptor complex-associated protein beta chain [Disease-causing germline mutation(s) in]
  - Função: Required in cooperation with CD79A for initiation of the signal transduction cascade activated by the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking t
- **SPI1** — Transcription factor PU.1 [Disease-causing germline mutation(s) in]
  - Função: Pioneer transcription factor, which controls hematopoietic cell fate by decompacting stem cell heterochromatin and allowing other transcription factors to enter otherwise inaccessible genomic sites. O
- **NFKB2** — Nuclear factor NF-kappa-B p100 subunit [Disease-causing germline mutation(s) in]
  - Função: NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to
- **MS4A1** — B-lymphocyte antigen CD20 [Disease-causing germline mutation(s) in]
  - Função: B-lymphocyte-specific membrane protein that plays a role in the regulation of cellular calcium influx necessary for the development, differentiation, and activation of B-lymphocytes (PubMed:12920111,
- **ELF4** — ETS-related transcription factor Elf-4 [Candidate gene tested in]
  - Função: Transcriptional activator that binds to DNA sequences containing the consensus 5'-WGGA-3'. Transactivates promoters of the hematopoietic growth factor genes CSF2, IL3, IL8, and of the bovine lysozyme
- **CD19** — B-lymphocyte antigen CD19 [Disease-causing germline mutation(s) in]
  - Função: Functions as a coreceptor for the B-cell antigen receptor complex (BCR) on B-lymphocytes (PubMed:29523808). Decreases the threshold for activation of downstream signaling pathways and for triggering B
- **IGLL1** — Immunoglobulin lambda-like polypeptide 1 [Disease-causing germline mutation(s) in]
  - Função: Critical for B-cell development
- **CD81** — CD81 antigen [Disease-causing germline mutation(s) in]
  - Função: Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Essential for trafficking an
- **NFKB1** — Nuclear factor NF-kappa-B p105 subunit [Disease-causing germline mutation(s) in]
  - Função: NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to
- **TCF3** — Transcription factor 7-like 1 [Disease-causing germline mutation(s) in]
  - Função: Participates in the Wnt signaling pathway. Binds to DNA and acts as a repressor in the absence of CTNNB1, and as an activator in its presence. Necessary for the terminal differentiation of epidermal c

## Medicamentos em desenvolvimento (4)

- LENIOLISIB — Fase Phase 3 (PI3-kinase p110-delta subunit inhibitor)
- LENIOLISIB PHOSPHATE — Fase Phase 2 (PI3-kinase p110-delta subunit inhibitor)
- NEMIRALISIB — Fase Phase 2 (PI3-kinase p110-delta subunit inhibitor)
- APILIMOD — Fase Phase 1 (1-phosphatidylinositol 3-phosphate 5-kinase inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0015977

## Ensaios clínicos ativos (3)

- **NCT06954441** [RECRUITING]: V-IMMUNE: A Novel Immunoglobulin Therapy for Immunodeficiency — https://clinicaltrials.gov/study/NCT06954441
- **NCT01821781** [ACTIVE_NOT_RECRUITING]: Immune Disorder HSCT Protocol — https://clinicaltrials.gov/study/NCT01821781
- **NCT05321407** [ACTIVE_NOT_RECRUITING]: COVID-19 Vaccine Responses in PIDD Subjects — https://clinicaltrials.gov/study/NCT05321407
- **NCT00161993** [COMPLETED]: Safety, Pharmacokinetic and Efficacy Study of a 10% Triple Virally Reduced Intravenous Immune Globulin Solution in Patients With Primary Immunodeficiency (Hypo- or Agammaglobulinemia) — https://clinicaltrials.gov/study/NCT00161993
- **NCT01581593** [COMPLETED]: Efficacy and Safety Study of Kedrion IVIG 10% to Treat Subjects With Primary Immunodeficiency (PID) — https://clinicaltrials.gov/study/NCT01581593
- **NCT02960399** [TERMINATED]: Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older — https://clinicaltrials.gov/study/NCT02960399
- **NCT01289847** [COMPLETED]: A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency — https://clinicaltrials.gov/study/NCT01289847
- **NCT02234791** [UNKNOWN]: Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia — https://clinicaltrials.gov/study/NCT02234791
- **NCT00520494** [COMPLETED]: Efficacy and Safety of Vivaglobin® in Previously Untreated Patients With Primary Immunodeficiency — https://clinicaltrials.gov/study/NCT00520494
- **NCT00322556** [COMPLETED]: Safety and Efficacy of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID) — https://clinicaltrials.gov/study/NCT00322556

## Doenças relacionadas (por similaridade fenotípica)

- [Agamaglobulinemia sindromática](https://raras.org/doenca/agamaglobulinemia-sindromatica) — ORPHA:229720 — 188 sintomas em comum
- [Agamaglobulinemia isolada](https://raras.org/doenca/agamaglobulinemia-isolada) — ORPHA:229717 — 94 sintomas em comum
- [Síndrome linfoproliferativo autoimune](https://raras.org/doenca/sindrome-linfoproliferativo-autoimune) — ORPHA:3261 — 64 sintomas em comum
- [Agamaglobulinemia ligada ao X](https://raras.org/doenca/agamaglobulinemia-ligada-ao-x) — ORPHA:47 — 62 sintomas em comum
- [Imunodeficiência combinada grave T-B+](https://raras.org/doenca/imunodeficiencia-combinada-grave-t-b-orpha-317416) — ORPHA:317416 — 62 sintomas em comum
- [Enteropatia grave imunomediada](https://raras.org/doenca/enteropatia-grave-imunomediada) — ORPHA:94075 — 55 sintomas em comum
- [Agamaglobulinemia autossômica](https://raras.org/doenca/agamaglobulinemia-autossomica) — ORPHA:33110 — 53 sintomas em comum
- [Síndrome de agamaglobulinemia-microcefalia-craniossinostose-dermatite grave](https://raras.org/doenca/sindrome-de-agamaglobulinemia-microcefalia-craniossinostose-dermatite-grave) — ORPHA:83617 — 53 sintomas em comum
- [Síndrome de ativação PIK3 - delta](https://raras.org/doenca/sindrome-de-ativacao-pik3-delta) — ORPHA:397596 — 50 sintomas em comum
- [Neutropenia congênita](https://raras.org/doenca/42738) — ORPHA:42738 — 47 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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