We report the natural history, clinical manifestations, genetics, and immunohematological findings in 14 patients from 11 families with ARPC1B deficiency, delineating the spectrum of the disease that appears progressive and challenging to manage clinically.

A combined immunodeficiency with severe infections, inflammation and allergy caused by ARPC1B deficiency

Giliani, Silvia;Notarangelo, Luigi D;
2019-01-01

Abstract

We report the natural history, clinical manifestations, genetics, and immunohematological findings in 14 patients from 11 families with ARPC1B deficiency, delineating the spectrum of the disease that appears progressive and challenging to manage clinically.
2019
2018
Sogg. privati ital. no profit
LS6_12 Biological basis of immunity related disorders
Esperti anonimi
Inglese
Internazionale
ELETTRONICO
ARPC1B; Allergy; Combined immunodeficiency; Infection; Inflammation; Thrombocytopenia
Sogg. privati ital. no profit
52
info:eu-repo/semantics/article
262
Volpi, Stefano; Cicalese, Maria Pia; Tuijnenburg, Paul; Tool, Anton T J; Cuadrado, Eloy; Ahanchian, Hamid; Alzyoud, Raed; Akdemir, Zeynep Coban; Barza...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11379/513802
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