title: [Adenosine deaminase 1 deficiency, an inborn error of metabolism underlying a severe form of combined immunodeficiency].
abstract: Severe combined immune deficiencies (SCIDs) are a heterogeneous group of severe cellular immunodeficiencies. Early diagnosis is essential to allow adapted care before life-threatening systemic infections or complications associated with live vaccines. Adenosine deaminase 1 deficiency (ADA1) is an inborn error of metabolism leading to severe lymphopenia and characteristic bone lesions. Herein, we present the typical case of a child in whom ADA SCID was diagnosed at 2 months of life, revealed by lung involvement and extreme lymphopenia. Immune restoration in terms of peripheral lymphocyte count with enzyme replacement therapy, namely pegylated bovine ADA, is satisfactory so far. The search for a compatible donor is underway. Correcting the genetic defect by gene transfer is also being considered. The phenotype of this very rare condition is described. A severe peripheral lymphopenia in a young child is a finding of utmost importance for the diagnosis of a primary cellular immunodeficiency.
authors.affiliation: Réanimation néonatale et pédiatrique, pôle mère-enfant, hôpital Nord, centre hospitalier universitaire de Saint-Étienne, 42005 Saint-Étienne, France. Electronic address: antoinegiraud.sp@gmail.com.
authors.forename: A
authors.initials: A
authors.lastname: Giraud
authors.affiliation: Réanimation néonatale et pédiatrique, pôle mère-enfant, hôpital Nord, centre hospitalier universitaire de Saint-Étienne, 42005 Saint-Étienne, France.
authors.forename: M-P
authors.initials: MP
authors.lastname: Lavocat
authors.affiliation: Réanimation néonatale et pédiatrique, pôle mère-enfant, hôpital Nord, centre hospitalier universitaire de Saint-Étienne, 42005 Saint-Étienne, France.
authors.forename: C
authors.initials: C
authors.lastname: Cremillieux
authors.affiliation: Réanimation néonatale et pédiatrique, pôle mère-enfant, hôpital Nord, centre hospitalier universitaire de Saint-Étienne, 42005 Saint-Étienne, France.
authors.forename: H
authors.initials: H
authors.lastname: Patural
authors.affiliation: Hématologie-oncologie pédiatrique, pôle mère-enfant, hôpital Nord, centre hospitalier universitaire de Saint-Étienne, 42005 Saint-Étienne, France.
authors.forename: S
authors.initials: S
authors.lastname: Thouvenin
authors.affiliation: Hématologie-oncologie pédiatrique, pôle mère-enfant, hôpital Nord, centre hospitalier universitaire de Saint-Étienne, 42005 Saint-Étienne, France.
authors.forename: A
authors.initials: A
authors.lastname: David
authors.affiliation: Faculté de médecine Paris 5, université René Descartes-Paris 5, CHU Necker-Enfants-Malades, Paris, France.
authors.forename: J-L
authors.initials: JL
authors.lastname: Perignon
authors.affiliation: Hématologie-oncologie pédiatrique, pôle mère-enfant, hôpital Nord, centre hospitalier universitaire de Saint-Étienne, 42005 Saint-Étienne, France.
authors.forename: J-L
authors.initials: JL
authors.lastname: Stephan
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency*; D000361:Agammaglobulinemia / Q000175:diagnosis*; D004200:Diseases in Twins / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007223:Infant; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis*
chemical_list: D000243:Adenosine Deaminase