title: Delayed onset of (severe) combined immunodeficiency (S)CID (T-B+NK+): complete IL-7 receptor deficiency in a 22 months old girl.
abstract: BACKGROUND
  Usually IL-7 receptor deficiency presents as (T-B+NK+) (Severe) Combined Immunodeficiency (SCID) within the first six months of life. All published IL-7R-deficient patients so far have been diagnosed and received stem cell transplantation within the first year of life.
  
  
  METHODS
  We present a female patient born to non-consanguineous German parents with delayed manifestation. She presented with superinfected dermatitis at 6 months of life and developed a first pneumonia at age 9 months. On admission to our department at 22 months the patient presented with severe T cell lymphopenia. PNEUMOCYSTIS JIROVECI pneumonia was diagnosed from broncho-alveolar lavage fluid.
  
  
  RESULTS
  Sequencing of IL7RA in the patient revealed compound heterozygous mutations. FACS analysis showed no expression of IL-7 receptor alpha-chain on the patient's lympho- and monocytes. The patient successfully received haematopoietic stem cell transplantation from a 9/10 matched unrelated donor at age 24 months.
  
  
  CONCLUSIONS
  [corrected] Despite almost absent T cell functions clinical symptoms occurred late compared to previously published patients. Thus even in patients with moderate clinical symptoms and delayed onset a (T-B+NK+) (Severe) Combined Immunodeficiency ((S)CID)) due to missing IL-7 receptor signalling must be considered.
authors.affiliation: University Hospital Berlin, Department for Pediatric Pneumology and Immunology, Berlin, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Rossberg
authors.forename: K
authors.initials: K
authors.lastname: Schwarz
authors.forename: C
authors.initials: C
authors.lastname: Meisel
authors.forename: S
authors.initials: S
authors.lastname: Holzhauer
authors.forename: J
authors.initials: J
authors.lastname: Kühl
authors.forename: W
authors.initials: W
authors.lastname: Ebell
authors.forename: V
authors.initials: V
authors.lastname: Wahn
authors.forename: H
authors.initials: H
authors.lastname: von Bernuth
mesh_terms: D001402:B-Lymphocytes / Q000276:immunology*; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D005838:Genotype; D005858:Germany; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D053699:Interleukin-7 Receptor alpha Subunit / Q000172:deficiency* / Q000235:genetics*; D007694:Killer Cells, Natural / Q000276:immunology*; D008231:Lymphopenia / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D009894:Opportunistic Infections / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology* / Q000628:therapy; D013601:T-Lymphocytes / Q000276:immunology*
chemical_list: D053699:Interleukin-7 Receptor alpha Subunit