# Desenmascarando al imitador: neumonía por citomegalovirus que inicia como CVID se diagnostica como deficiencia de GATA2 con dos mutaciones patológicas únicas

**Authors:** Andrés F Zea-Verano, Mónica Fernandes-Pineda

PMC · DOI: 10.7705/biomedica.7813 · Biomédica · 2024-12-23

## Full-text entities

- **Genes:** NCAM1 (neural cell adhesion molecule 1) [NCBI Gene 4684] {aka CD56, MSK39, NCAM}, IL12B (interleukin 12B) [NCBI Gene 3593] {aka CLMF, CLMF2, IL-12B, IMD28, IMD29, NKSF}, GATA2 (GATA binding protein 2) [NCBI Gene 2624] {aka DCML, IMD21, MONOMAC, NFE1B}, CD19 (CD19 molecule) [NCBI Gene 930] {aka B4, CVID3}, CD8A (CD8 subunit alpha) [NCBI Gene 925] {aka CD8, CD8alpha, IMD116, Leu2, p32}, KRT20 (keratin 20) [NCBI Gene 54474] {aka CD20, CK-20, CK20, K20, KRT21}, CD4 (CD4 molecule) [NCBI Gene 920] {aka CD4mut, IMD79, Leu-3, OKT4D, T4}
- **Diseases:** CVID (MESH:D017074), deficiencia de (MESH:D005862), inborn errors of immunity (MESH:D007154), cancer (MESH:D009369), candidiasis (MESH:D002177), fibrosis (MESH:D005355), cromosoma X (MESH:D000326), Epstein-Barr (MESH:D020031), Agammaglobulinemia (MESH:D000361), herpes (MESH:C536395), histoplasmosis (MESH:D006660), monocitopenia profunda (MESH:D014006), Diamond-Blackfan (MESH:D029503), deficiencia selectiva de IgA (MESH:D017098), verrugas (MESH:D001474), varicela zoster (MESH:D006562), virales (MESH:D014777), DCML (OMIM:614172), linfocitos B (MESH:D006509), sordera neurosensorial (MESH:D006319), linfocitos T (MESH:D001260), deficiencia de GATA2 (MESH:D000077428), anemia (MESH:D000740), otros errores (MESH:D012030), neutropenia (MESH:D009503), psoriasis (MESH:D011565), Primary immune deficiencies (MESH:D000081207), monocitopenia grave (MESH:D006111), proteinosis alveolar pulmonar (MESH:D011649), linfocitos NK (MESH:D054066)
- **Chemicals:** Niveles valle de inmunoglobulina G (-)
- **Species:** Severe acute respiratory syndrome coronavirus 2 (no rank) [taxon 2697049]
- **Mutations:** c.937C>T, c.938A>G

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## References

27 references — full list in the complete paper: https://tomesphere.com/paper/PMC11896597/full.md

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Source: https://tomesphere.com/paper/PMC11896597