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1.
Clin Immunol ; 179: 77-80, 2017 06.
Artículo en Inglés | MEDLINE | ID: mdl-28302518

RESUMEN

Mutations in PIK3R1 gene have been associated to two different conditions: a primary immunodeficiency, called APDS2, of recent description and SHORT syndrome. 47 patients with APDS2 have been reported to date, only one of them sharing both PIK3R1-related phenotypes. Here we describe two more patients affected by APDS2 and SHORT syndrome, which highlights that this association may not be so infrequent. We recommend that patients with mutations in PIK3R1 gene should be assessed by both clinical immunologists and clinical geneticists.


Asunto(s)
Trastornos del Crecimiento/genética , Hipercalcemia/genética , Síndromes de Inmunodeficiencia/genética , Enfermedades Metabólicas/genética , Nefrocalcinosis/genética , Fosfatidilinositol 3-Quinasas/genética , Niño , Fosfatidilinositol 3-Quinasa Clase I/genética , Fosfatidilinositol 3-Quinasa Clase Ia , Humanos , Lactante , Masculino , Mutación , Enfermedades de Inmunodeficiencia Primaria
2.
Arch Neurol ; 58(11): 1923-8, 2001 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-11709004

RESUMEN

BACKGROUND: Complement (C) factor I deficiency is a rare immunodeficiency state frequently associated with recurrent pyogenic infections in early infancy. This deficiency causes a permanent uncontrolled activation of the alternative pathway resulting in massive consumption of C3. PATIENT: A 23-year-old woman with monthly recurrent meningitis episodes, mostly in the perimenstrual period, since August 1999. Previously, at age 16 years, she had meningococcal sepsis, also coinciding with menstruation. OBJECTIVES: To study the patient and her family to elucidate the molecular defects in the pedigree and to evaluate her clinical evolution. RESULTS: We describe clinical, immunological, and treatment follow-up during this period. First, we characterized the existence of a total complement factor I deficiency defined by undetectable levels by enzyme immunosorbent assay. This total deficiency was also found in her sister. Her parents and brother had approximately half of the normal levels. In addition, the patient had very low levels of C3; factor B; and an important reduction of factor H, properdin, C5, C7, and C8 complement components. Additional studies in the patient's sera evidenced high levels of immune complexes containing C1q and immunoglobulin (Ig) G, as well as C3b/factor H, C3b/properdin, C3b/IgG, and properdin/IgG complexes. Treatment with prophylactic antibiotics, antiestrogen medication, plasma infusions, or intravenous immunoglobulin has been unsuccessful in avoiding consecutive meningitis episodes. CONCLUSION: For the first time to our knowledge, these data present an unusual relationship between meningitis episodes and menstruation in factor I immunodeficiency.


Asunto(s)
Factor I de Complemento/deficiencia , Factor I de Complemento/genética , Meningitis/etiología , Menstruación , Adolescente , Adulto , Complejo Antígeno-Anticuerpo/sangre , Niño , Factor I de Complemento/inmunología , Proteínas del Sistema Complemento/análisis , Femenino , Humanos , Masculino , Meningitis/inmunología , Linaje , Recurrencia
3.
Allergol Immunopathol (Madr) ; 29(3): 107-13, 2001.
Artículo en Español | MEDLINE | ID: mdl-11434883

RESUMEN

Knowledge of the molecular defects responsible for some primary immunodeficiency diseases (PIDs) offers undoubted advantages in establishing a reliable diagnosis. Such knowledge would allow us not only to establish a prognosis but also to instigate the most appropriate therapy. After molecular diagnosis, some patients could benefit from gene therapy. However, apart from the diagnosis of the disease, molecular biological techniques also enable more reliable identification of carriers and, when suggested by the family history and when the familial defect is already known, prenatal diagnosis will also be possible, thus establishing the earliest possible treatment. Using the single-stranded conformational polymorphism technique followed by direct sequencing, we found 22 different mutations in 22 patients from unrelated families and with a phenotype compatible with x-linked agammaglobulinemia. Fourteen of these are new, previously undescribed mutations and the remaining eight are already included in the data base (http://www.uta.fi/imt/bioinfo/Btkbase). Analysis of the female carrier was performed in all the mothers and the mutation was de novo in only one patient. Study of the BtK gene enabled differential diagnosis with common variable immunodeficiency disease in some patients who showed absent or very low lymphocyte B counts as well as forms of autosomal recessive agammaglobulinemia. Using the same techniques, we were able to identify mutations in the CD40 ligand gene in three families in which one of the members had clinical and biological phenotype compatible with X-linked hyper-IgM. Molecular diagnosis was very useful in identifying carriers in these families as well as in making the differential diagnosis among patients with common variable immunodeficiency disease. Purely on this were we able to provide appropriate genetic counseling.


Asunto(s)
Análisis Mutacional de ADN , Síndromes de Inmunodeficiencia/diagnóstico , Adulto , Agammaglobulinemia Tirosina Quinasa , Agammaglobulinemia/enzimología , Agammaglobulinemia/genética , Ligando de CD40/genética , Bases de Datos Factuales , Exones/genética , Femenino , Enfermedades Fetales/diagnóstico , Enfermedades Fetales/enzimología , Enfermedades Fetales/genética , Genes Dominantes , Genes Recesivos , Tamización de Portadores Genéticos , Humanos , Hipergammaglobulinemia/genética , Inmunoglobulina M/biosíntesis , Inmunoglobulina M/sangre , Síndromes de Inmunodeficiencia/embriología , Síndromes de Inmunodeficiencia/genética , Lactante , Recién Nacido , Internet , Masculino , Fenotipo , Polimorfismo Conformacional Retorcido-Simple , Diagnóstico Prenatal , Proteínas Tirosina Quinasas/deficiencia , Proteínas Tirosina Quinasas/genética , Procesamiento Postranscripcional del ARN , Análisis de Secuencia de ADN , Cromosoma X/genética
4.
An Esp Pediatr ; 51(3): 235-40, 1999 Sep.
Artículo en Español | MEDLINE | ID: mdl-10575745

RESUMEN

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. PATIENTS AND 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.


Asunto(s)
Agammaglobulinemia/diagnóstico , Agammaglobulinemia/genética , Ligamiento Genético , Neutropenia/etiología , Cromosoma X/genética , Agammaglobulinemia/terapia , Preescolar , Diagnóstico Diferencial , Humanos , Inmunodifusión , Inmunoglobulinas/análisis , Inmunoglobulinas Intravenosas/uso terapéutico , Lactante , Subgrupos Linfocitarios , Masculino , Nefelometría y Turbidimetría , Neutropenia/diagnóstico , Factores de Tiempo
6.
An Esp Pediatr ; 33(5): 419-23, 1990 Nov.
Artículo en Español | MEDLINE | ID: mdl-2096754

RESUMEN

From a cohort of 162 children born to 161 mothers belonging to risk groups for human immunodeficiency virus (HIV) infection, we have studied 32 asymptomatic HIV seropositive and 19 HIV seronegative mothers and their offspring seropositive mothers when compared with the seronegative group had lower counts of leukocytes, lymphocytes, CD4+ cells and CD4+/CD8+ ratio as well as higher IgG and IgM serum levels. The offspring from HIV seropositive mothers differed from children born to HIV seronegative mothers in having higher lymphocyte counts, serum IgG level and spontaneous in vitro IgG production. The number of lymphocytes and the IgG serum level correlated in the child HIV seropositive mother pairs. Two children born to HIV seropositive mothers had a CD4+/CD8+ ratio below 0.8. The significance of these abnormalities and its possible relationship with active HIV infection in children is at present unknown.


Asunto(s)
Seropositividad para VIH/inmunología , Adulto , Femenino , Seropositividad para VIH/diagnóstico , Humanos , Inmunoglobulinas/inmunología , Lactante , Recién Nacido , Recuento de Leucocitos , Linfocitos/inmunología , Masculino , Intercambio Materno-Fetal , Embarazo , Estudios Prospectivos
7.
An Esp Pediatr ; 27(6): 411-5, 1987 Dec.
Artículo en Español | MEDLINE | ID: mdl-2451892

RESUMEN

Thirty five patients affected by primary immunodeficiency diseases were treated with a polyethylenglicol treated intravenous gammaglobulin. Number of infusions administered during a period of 665 months/patients, was 110. In those cases previously treated with intramuscular gammaglobulin, serum IgG levels were higher after intravenous gammaglobulin administration. Therapeutic response was favourable in most cases. Intravenous gammaglobulin was well tolerated, noticing only two serious and two mild adverse reactions. Patients that suffered adverse reactions with intramuscular gammaglobulin tolerated well intravenous preparation used, except for one patient that after two years in treatment developed IgE mediated antibodies against IgA. Need of an individualized dosage is emphasized.


Asunto(s)
Inmunización Pasiva , Síndromes de Inmunodeficiencia/terapia , gammaglobulinas/administración & dosificación , Adolescente , Adulto , Agammaglobulinemia/terapia , Ataxia Telangiectasia/terapia , Niño , Preescolar , Femenino , Humanos , Lactante , Infusiones Intravenosas , Inyecciones Intramusculares , Masculino , Síndrome de Wiskott-Aldrich/terapia
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