# Agamaglobulinemia sindromática

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

## Identificadores

- **ORPHA**: 229720 — https://www.orpha.net/en/disease/detail/229720
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Uma deficiência de anticorpos que faz parte de uma síndrome mais abrangente.

## Epidemiologia e herança


## Sinais e sintomas (188 fenótipos HPO)

- **Hipoglicemia** — HPO: HP:0001943
- **Diferenciação defeituosa de linfócitos B** — HPO: HP:0005357
- **Insuficiência adrenal deficiente em adrenocorticotrofina** — HPO: HP:0011735
- **Nível diminuído de IgG circulante** — HPO: HP:0004315
- **Positividade do anticorpo antinuclear** — HPO: HP:0003493
- **Nível reduzido de iso-hemaglutinina** — HPO: HP:0032139
- **Artralgia** — HPO: HP:0002829
- **Diabetes mellitus tipo 1** — HPO: HP:0100651
- **Doença pulmonar crônica** — HPO: HP:0006528
- **Gastrite atrófica** — HPO: HP:0002582
- **Herpes oral recorrente** — HPO: HP:0410028
- **Ausência completa ou quase completa de resposta de anticorpos específicos à vacina pneumocócica** — HPO: HP:0410300
- **Nível diminuído de androgênio circulante** — HPO: HP:0030349
- **Resposta de anticorpos específicos diminuída à vacinação** — HPO: HP:0032140
- **Craniossinostose coronal** — HPO: HP:0004440
- **Alopecia total** — HPO: HP:0007418
- **Fadiga** — HPO: HP:0012378
- **Infiltrado inflamatório perivascular dérmico superficial** — HPO: HP:0031190
- **Insuficiência adrenal central** — HPO: HP:0011734
- **Infestação frequente por Giardia lamblia** — HPO: HP:0005215
- **Ausência parcial de resposta de anticorpos específicos à vacina antipneumocócica não conjugada** — HPO: HP:0410301
- **Infecções fúngicas recorrentes** — HPO: HP:0002841
- **Infecções recorrentes do trato respiratório inferior** — HPO: HP:0002783
- **Pioedermite gangrenosa** — HPO: HP:0025452
- **Sinusite recorrente** — HPO: HP:0011108
- **Nível diminuído de ACTH circulante** — HPO: HP:0002920
- **Imunodeficiência combinada** — HPO: HP:0005387
- **Hiponatremia** — HPO: HP:0002902
- **Atrofia cerebral** — HPO: HP:0012444
- **Contagem total de linfócitos B diminuída** — HPO: HP:0010976
- **Infecções bacterianas recorrentes** — HPO: HP:0002718
- **Fenômeno de Raynaud** — HPO: HP:0030880
- **Úlcera aftosa** — HPO: HP:0032154
- **Distrofia ungueal** — HPO: HP:0008404
- **Acantose epidérmica** — HPO: HP:0025092
- **Morfologia anormal da região periungueal** — HPO: HP:0100803
- **Proteinúria nefrótica** — HPO: HP:0012593
- **Fator de crescimento semelhante à insulina 1 sérico diminuído** — HPO: HP:0030353
- **Lesão psoriasiforme** — HPO: HP:0025526
- **Positividade de autoanticorpos** — HPO: HP:0030057
- _...e mais 148 sintomas. Ver https://raras.org/doenca/agamaglobulinemia-sindromatica._

## Genes associados (14)

- **IRF2BP2** — Interferon regulatory factor 2-binding protein 2 [Disease-causing germline mutation(s) in]
  - Função: Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities (PubMed:12799427). Represses the NFAT1-dependent transactivation of
- **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
- **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
- **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
- **IL21** — Interleukin-21 [Disease-causing germline mutation(s) in]
  - Função: Cytokine with immunoregulatory activity. May promote the transition between innate and adaptive immunity. Induces the production of IgG(1) and IgG(3) in B-cells (By similarity). Implicated in the gene
- **CR2** — Complement receptor type 2 [Disease-causing germline mutation(s) in]
  - Função: Serves as a receptor for various ligands including complement component CD3d, HNRNPU OR IFNA1 (PubMed:1849076, PubMed:21527715, PubMed:7753047). When C3d is bound to antigens, attaches to C3d on B-cel
- **IKZF1** — DNA-binding protein Ikaros [Disease-causing germline mutation(s) in]
  - Função: Transcription regulator of hematopoietic cell differentiation (PubMed:17934067). Binds gamma-satellite DNA (PubMed:17135265, PubMed:19141594). Plays a role in the development of lymphocytes, B- and T-
- **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
- **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
- **TNFRSF13B** — Tumor necrosis factor receptor superfamily member 13B [Disease-causing germline mutation(s) in]
  - Função: Receptor for TNFSF13/APRIL and TNFSF13B/TALL1/BAFF/BLYS that binds both ligands with similar high affinity. Mediates calcineurin-dependent activation of NF-AT, as well as activation of NF-kappa-B and
- **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
- **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,
- **SEC61A1** — Protein transport protein Sec61 subunit alpha isoform 1 [Disease-causing germline mutation(s) in]
  - Função: Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across the endoplasmic reticulum (ER) (PubMed:12475939, PubMed:2237505

## Medicamentos em desenvolvimento (3)

- LENIOLISIB — Fase Phase 2 (PI3-kinase p110-delta subunit inhibitor)
- LENIOLISIB PHOSPHATE — 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_0016463

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome linfoproliferativo autoimune](https://raras.org/doenca/sindrome-linfoproliferativo-autoimune) — ORPHA:3261 — 54 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
- [Imunodeficiência combinada por déficit de LRBA](https://raras.org/doenca/imunodeficiencia-combinada-por-deficit-de-lrba) — ORPHA:445018 — 45 sintomas em comum
- [Imunodeficiência combinada grave T-B+](https://raras.org/doenca/imunodeficiencia-combinada-grave-t-b-orpha-317416) — ORPHA:317416 — 42 sintomas em comum
- [Enteropatia grave imunomediada](https://raras.org/doenca/enteropatia-grave-imunomediada) — ORPHA:94075 — 41 sintomas em comum
- [Síndrome de deficiência da função da adenohipófise-imunodeficiência variável](https://raras.org/doenca/sindrome-de-deficiencia-da-funcao-da-adenohipofise-imunodeficiencia-variavel) — ORPHA:293978 — 38 sintomas em comum
- [Neutropenia congênita](https://raras.org/doenca/42738) — ORPHA:42738 — 37 sintomas em comum
- [Agamaglobulinemia isolada](https://raras.org/doenca/agamaglobulinemia-isolada) — ORPHA:229717 — 36 sintomas em comum
- [Síndrome Omenn](https://raras.org/doenca/sindrome-omenn) — ORPHA:39041 — 35 sintomas em comum
- [Candidíase mucocutânea crônica](https://raras.org/doenca/candidiase-mucocutanea-cronica) — ORPHA:1334 — 34 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 — Agamaglobulinemia sindromática. Disponível em: https://raras.org/doenca/agamaglobulinemia-sindromatica
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