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Delayed onset of (severe) combined immunodeficiency (S)CID (T-B+NK+): complete IL-7 receptor deficiency in a 22 months old girl.

AbstractBACKGROUND:
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.
PATIENT AND 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.
CONCLUSION:
[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.
AuthorsS Rossberg, K Schwarz, C Meisel, S Holzhauer, J Kühl, W Ebell, V Wahn, H von Bernuth
JournalKlinische Padiatrie (Klin Padiatr) 2009 Nov-Dec Vol. 221 Issue 6 Pg. 339-43 ISSN: 1439-3824 [Electronic] Germany
PMID19890784 (Publication Type: Case Reports, Journal Article)
CopyrightGeorg Thieme Verlag KG Stuttgart.New York.
Chemical References
  • Interleukin-7 Receptor alpha Subunit
Topics
  • B-Lymphocytes (immunology)
  • DNA Mutational Analysis
  • Female
  • Follow-Up Studies
  • Genetic Carrier Screening
  • Genotype
  • Germany
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Infant
  • Interleukin-7 Receptor alpha Subunit (deficiency, genetics)
  • Killer Cells, Natural (immunology)
  • Lymphopenia (diagnosis, genetics, immunology)
  • Opportunistic Infections (diagnosis, genetics, immunology)
  • Severe Combined Immunodeficiency (diagnosis, genetics, immunology, therapy)
  • T-Lymphocytes (immunology)

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