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Revista alergia México
versión On-line ISSN 2448-9190
Resumen
MACIAS-ROBLES, Ana Paola et al. Early detection of WHIM symdrome. A case report. Rev. alerg. Méx. [online]. 2023, vol.70, n.1, pp.47-50. Epub 25-Ago-2023. ISSN 2448-9190. https://doi.org/10.29262/ram.v70i1.1211.
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.
Conclusion:
The diagnosis of severe neutropenia from birth should include the search for inborn errors of immunity, through genetic sequencing studies, especially in asymptomatic or oligosymptomatic patients.
Palabras llave : Neutropenia; B cells; Cellular immunity; CXCR4; WHIM.
