[Neutropenia as early manifestation of X-linked agammaglobulinemia. Report on 4 patients].
OBJECTIVE
The aim of this study was to determine the frequency of neutropenia associated to X-linked agammaglobulinemia (XLA) and to describe the clinical characteristics of the children diagnosed in our unit.


METHODS
A revision of the medical records registered in our unit during a 28 year period (1970-1998) according to the diagnostic criteria of XLA was performed. We included in the study group those patients that expressed a neutropenia. Immunological studies by standard techniques were performed.


RESULTS
Of the 37 patients fulfilling the diagnostic criteria of XLA, 4 cases had experienced episodes of neutropenia (10.81%). The frequency of neutropenia within the group without familiar antecedents was 15% and within the group with familiar antecedents 5.88%. In all cases, the neutropenia was present during a serious acute infectious disease. The neutropenia was transient and resolved promptly after the onset of antibiotic therapy in all patients. None of the patients experienced neutropenia while under therapy with intravenous gammaglobulin.


CONCLUSIONS
The association of XLA and neutropenia seems to be sufficiently frequent as to include it in the differential diagnosis of neutropenia during infancy. It is important to consider a primary immunodeficiency diagnosis when a child presents neutropenia and a serious acute infectious disease. Quantification of serum immunoglobulin levels and enumeration of lymphocyte subpopulations can lead to an early diagnosis.
Plo Rodríguez
F
F
Unidad de Inmunología, Hospital Universitario La Paz, Madrid.
García Rodríguez
M C
MC
Ferreira Cerdán
A
A
Fontán Casariego
G
G
D000361:Agammaglobulinemia / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D002675:Child, Preschool; D003937:Diagnosis, Differential; D008040:Genetic Linkage; D006801:Humans; D005779:Immunodiffusion; D007136:Immunoglobulins / Q000032:analysis; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007223:Infant; D016131:Lymphocyte Subsets; D008297:Male; D009391:Nephelometry and Turbidimetry; D009503:Neutropenia / Q000175:diagnosis / Q000209:etiology*; D013997:Time Factors; D014960:X Chromosome / Q000235:genetics*
D007136:Immunoglobulins; D016756:Immunoglobulins, Intravenous
Neutropenia como manifestación precoz de una agammaglobulinemia ligada al cromosoma X. Descripción de cuatro pacientes.