0000000000367259

AUTHOR

Mc Pietrogrande

showing 1 related works from this author

Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study

2002

A questionnaire-based retrospective clinical and immunological survey was conducted in 73 males with a definite diagnosis of X-linked agammaglobulinemia based on BTK sequence analysis. Forty-four were sporadic and 29 familial cases. At December 2000, the patients' ages ranged from 2 to 33 years; mean age at diagnosis and mean duration of follow-up were 3.5 and 10 years respectively. After the mid-1980s all but 2 were on intravenous immunoglobulin (IVIG) substitution therapy, with residual IgG >500 mg/dl in 94% of the patients at the time of enrollment. Respiratory infections were the most frequent manifestation both prior to diagnosis and over follow-up. Chronic lung disease (CLD) was prese…

Lung DiseasesAdultMalePediatricsmedicine.medical_specialtyGenetic Linkage; Agammaglobulinemia; Humans; Infant Newborn; Protein-Tyrosine Kinases; Child; Child Preschool; X Chromosome; Immunoglobulins Intravenous; Lung Diseases; Adult; Cohort Studies; Chronic Disease; Follow-Up Studies; Adolescent; Mutation; Maleclinical featuresX ChromosomeX-linked agammaglobulinemiaAdolescentGenetic LinkageImmunologyX-linked agammaglobulinemiaImmunoglobulinsX-linked agammaglobulinemia; infections; intravenous immunoglobulin; BTK mutationSepsisCohort StudiesAgammaglobulinemiaImmunopathologyintravenous immunoglobulinEpidemiologymedicineAgammaglobulinaemia Tyrosine KinaseImmunology and AllergyHumansinfectionsChildPreschoolSettore MED/38 - Pediatria Generale e SpecialisticaBTK mutationsbusiness.industryChronic sinusitisInfant NewbornMeningoencephalitisImmunoglobulins IntravenousInfantProtein-Tyrosine Kinasesmedicine.diseaseNewbornBTK mutationagammaglobulinemia; clinical features; BTK mutationsChild PreschoolChronic DiseaseMutationbusinessIntravenousMeningitisCohort studyFollow-Up Studies
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