title: Humoral deficiency in three paediatric patients with genetic diseases.
abstract: BACKGROUND
  Primary immunodeficiencies (PID) represent a heterogeneous group of genetic disorders characterised by poor or absent function in one or more components of the immune system. Humoral or antibody immunodeficiencies are the most common form of PID, of which common variable immunodeficiency (CVID) is the most frequent symptomatic form. CVID is usually characterised by hypogammaglobulinaemia with poor antibody specificity, and an increased susceptibility to infections, autoimmunity and lymphoproliferation. Fewer than 10% of CVID patients have a known monogenic basis. Several chromosomal abnormalities (chromosome 18q-syndrome, monosomy 22, trisomy 8 and trisomy 21) are currently identified as causes of hypogammaglobulinaemia, and can manifest with recurrent infections and mimic CVID.
  
  
  METHODS
  Review of clinical charts and laboratory results of paediatric patients followed in the outpatient clinic of PID with a diagnosis of genetic disease and humoral immunodeficiency.
  
  
  RESULTS
  Three patients with different genetic diseases (19p13.3 deletion, a ring 18 chromosome and Kabuki syndrome), were identified. During follow-up, they developed signs and symptoms suggestive of humoral deficiency mimicking CVID, despite which immunoglobulin levels were quantified with considerable delay with respect to symptoms onset, and specific management was subsequently delayed.
  
  
  CONCLUSIONS
  Patients with genetic abnormalities and recurrent infections should be evaluated for hypogammaglobulinaemia. An early diagnosis of humoral deficiency can allow treatment optimisation to prevent complications and sequelae.
authors.affiliation: Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain.
authors.forename: K
authors.initials: K
authors.lastname: Calvo Campoverde
authors.affiliation: Clinical Genetics Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Gean
authors.affiliation: Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain; Functional Unit of Immunology, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Piquer Gibert
authors.affiliation: Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain.
authors.forename: L
authors.initials: L
authors.lastname: Martinez Valdez
authors.affiliation: Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain; Functional Unit of Immunology, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Deyà-Martínez
authors.affiliation: Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Rojas Volquez
authors.affiliation: Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain; Functional Unit of Immunology, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Esteve-Sole
authors.affiliation: Functional Unit of Immunology, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain; Immunology Department-CDB, Hospital Clinic-IDIBAPS, Barcelona, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Juan
authors.affiliation: Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain; Functional Unit of Immunology, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain.
authors.forename: A M
authors.initials: AM
authors.lastname: Plaza
authors.affiliation: Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain; Functional Unit of Immunology, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain. Electronic address: lalsina@hsjdbcn.org.
authors.forename: L
authors.initials: L
authors.lastname: Alsina
mesh_terms: D000015:Abnormalities, Multiple / Q000276:immunology*; D000293:Adolescent; D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics; D015551:Autoimmunity / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000276:immunology; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics* / Q000276:immunology; D017074:Common Variable Immunodeficiency / Q000175:diagnosis; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D005260:Female; D006402:Hematologic Diseases / Q000276:immunology*; D006801:Humans; D056724:Immunity, Humoral / Q000235:genetics*; D016756:Immunoglobulins, Intravenous; D008297:Male; D012303:Ring Chromosomes; D013030:Spain; D015837:Vestibular Diseases / Q000276:immunology*
chemical_list: D016756:Immunoglobulins, Intravenous
keywords: 19p13.3 deletion; Chromosome aberration; Genetic disease; Humoral deficiency; Hypogammaglobulinaemia; Immune deficiency; Kabuki syndrome; Ring chromosome 18