Abstract | BACKGROUND: 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.
|
Authors | S Rossberg, K Schwarz, C Meisel, S Holzhauer, J Kühl, W Ebell, V Wahn, H von Bernuth |
Journal | Klinische Padiatrie
(Klin Padiatr)
2009 Nov-Dec
Vol. 221
Issue 6
Pg. 339-43
ISSN: 1439-3824 [Electronic] Germany |
PMID | 19890784
(Publication Type: Case Reports, Journal Article)
|
Copyright | Georg 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)
|