Late diagnosis of WHIM sydrome

WHIM syndrome is a primary autosomal dominant immuno deficiency due to CXCR4 mutations characterized by mucocutaneous warts, hypogammaglobulinemia, recurrent bacterial infections and myelokathesis. Treatment consists in prophylactic antibiotics, immunoglobulin replacement and granulocyte or granuloc...

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Veröffentlicht in:	Medicina (Buenos Aires) 2018, Vol.78 (2), p.123-126
Hauptverfasser:	Paolini, María V, Danielian, Silvia, Prieto, Emma, Tami, María Fernanda, Oleastro, Matías M, Fernández Romero, Diego S
Format:	Artikel
Sprache:	spa
Schlagworte:	Adult Delayed Diagnosis Female Humans Immunologic Deficiency Syndromes - diagnosis Immunologic Deficiency Syndromes - genetics Mutation - genetics Receptors, CXCR4 - genetics Warts - diagnosis Warts - genetics Young Adult
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