title: Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
abstract: 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.
authors.affiliation: Department of Clinical Immunology, IdiPAZ, La Paz University Hospital, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain. Electronic address: maria.bravo@salud.madrid.org.
authors.forename: M
authors.initials: M
authors.lastname: Bravo García-Morato
authors.affiliation: Clinical Genetics Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, La Paz University Hospital, Madrid, Spain; Unit 753, Biomedical Research Networking Center on Rare Diseases, (CIBERER), Health Institute Carlos III, Madrid, Spain.
authors.forename: S
authors.initials: S
authors.lastname: García-Miñaúr
authors.affiliation: Department of Pediatrics, Pediatrics Oncology Unit, Navarra Hospital Center, Pamplona, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Molina Garicano
authors.affiliation: Clinical Genetics Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, La Paz University Hospital, Madrid, Spain; Unit 753, Biomedical Research Networking Center on Rare Diseases, (CIBERER), Health Institute Carlos III, Madrid, Spain.
authors.forename: F
authors.initials: F
authors.lastname: Santos Simarro
authors.affiliation: Department of Clinical Immunology, IdiPAZ, La Paz University Hospital, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.
authors.forename: L
authors.initials: L
authors.lastname: Del Pino Molina
authors.affiliation: Department of Clinical Immunology, IdiPAZ, La Paz University Hospital, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.
authors.forename: E
authors.initials: E
authors.lastname: López-Granados
authors.affiliation: Department of Clinical Immunology, IdiPAZ, La Paz University Hospital, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Ferreira Cerdán
authors.affiliation: Department of Clinical Immunology, IdiPAZ, La Paz University Hospital, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Rodríguez Pena
mesh_terms: D002648:Child; D058534:Class I Phosphatidylinositol 3-Kinases / Q000235:genetics; D058543:Class Ia Phosphatidylinositol 3-Kinase; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics*; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007223:Infant; D008297:Male; D008659:Metabolic Diseases / Q000235:genetics*; D009154:Mutation; D009397:Nephrocalcinosis / Q000235:genetics*; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D000081207:Primary Immunodeficiency Diseases
chemical_list: D058534:Class I Phosphatidylinositol 3-Kinases; D058543:Class Ia Phosphatidylinositol 3-Kinase; D019869:Phosphatidylinositol 3-Kinases; C588001:PIK3R1 protein, human
keywords: Genetic diagnosis; Primary immunodeficiencies; SHORT syndrome