Vol. 70 No. 1 (2023), Case clinical reports
Vol. 70 No. 1 (2023)

Early identification of WHIM Syndrome. Case report

Case clinical reports
Published 2023-05-24 — Updated on 2023-05-24
Ana Paola Macías Robles
INSTITUTO MEXICANO DEL SEGURO SOCIAL CENTRO MEDICO NACIONAL SIGLO XXI
Alberto Tlacuilo-Parra
División de Investigación en Salud
Adolfo Eduardo Asencio-Gallegos
Médico adscrito al servicio de Hematología Pediátrica
Beatriz Kazuko de la Herrán-Arita
Unidad Médica de Alta Especialidad, Hospital de Pediatría, Centro Médico Nacional de Occidente, Guadalajara, Jalis
Saúl O Lugo-Reyes
Laboratorio de Inmunodeficiencias, Instituto Nacional de Pediatría, Ciudad de México.
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Keywords

B CELL
Inborn errors of immunity
CXCR4
WHIM
NEUTROPENIA

Abstract

Background: WHIM syndrome corresponds to an inborn error of innate and intrinsic immunity, characterized by: warts (Warts), Hypogammaglobulinemia, Infections and Myelocathexis, for its acronym in English.

Case report: 4-year-old male, with severe neutropenia and B-cell lymphopenia from birth, without severe infections or warts; the panel genetic sequencing study of primary immunodeficiencies with the CXCR4 c.1000C>T (p.Arg334*) variant, which is associated with WHIM syndrome.

Discussion: In patients with severe neutropenia and lymphopenia, inborn error of immunity should be suspected

 

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References

- Tangye SG, Al-Herz W. Bousfiha A, et al. Human inborn errors of immunity: 2022 update on the classification from the international union of immunological societies expert committee. J Clin Immunol. 2022; 42: 1473–1507.

- Heusinkveld LE, Majumdar S, Gao JL, McDermott DH, Murphy PM. WHIM syndrome: from pathogenesis towards personalized medicine and cure. J Clin Immunol. 2019; 39: 532–535.

- Geier CB, Ellison M, Cruz R, et al. Disease progression of WHIM syndrome in an international cohort of 66 pediatric and adult patients. J Clin Immunol. 2022; 42: 1748–1765.

- LASID Registry Noviembre 2022. https://lasidregistry.org/lasid/statistics/diseases. 30 Noviembre 2022.

-Dotta L, Notarangelo LD, Moratto D, Kumar R, Porta F, Soresina A, et al. Long-term outcome of WHIM syndrome in 18 patients: high risk of lung disease and HPV-related malignancies. J Allergy Clin Immunol Pract. 2019; 7: 1568–1577.

- Heusinkveld LE, Yim E, Yang A, Azani AB, Liu Q, Gao JL, McDermott DH, Murphy PM. Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency. Expert Opin Orphan Drugs. 2017; 5: 813-825.

- McDermott DH, Pastrana DV, Calvo KR, et al. Plerixafor for the treatment of WHIM Syndrome. N Engl J Med. 2019; 380: 163-170.

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Copyright (c) 2023 Revista Alergia México

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