Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) · 2023
[Early detection of WHIM symdrome. A case report].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Macías-Robles Ana Paola, Tlacuilo-Parra Alberto, Asencio-Gallegos Adolfo Eduardo, de la Herrán-Arita Beatriz Kazuko, Lugo-Reyes Saúl O
Аннотация
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.
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.