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Updated: May 31, 2026

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
Published on: September 19, 2019
[Early detection of WHIM symdrome. A case report]
Ana Paola Macías-Robles1,2, Alberto Tlacuilo-Parra3,2, Adolfo Eduardo Asencio-Gallegos4,2
1Médico adscrito al servicio de Alergia e Inmunología Clínica Pediátrica. paola_maro@hotmail.com.
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.
Conclusions:
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.
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