First reported case of Omenn syndrome in a patient with reticular dysgenesis

First reported case of Omenn syndrome in a patient with reticular dysgenesis

[...]AK2 should be added to the list of severe combined immunodeficiency-causing genes that may manifest as OS.  Birth 6 wk 8 wk 10 wks/p MP, CsA Normal values WBC (K cells/μL) 0.350 3.36 8.33 1.43 7.20-18.00 ANC (K cells/μL) N/A 0 0.08 0.09 2.57-7.54 ALC (K cells/μL) N/A 3.16 7.96 1.43 3.40-7.6...

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Veröffentlicht in:Journal of allergy and clinical immunology 2013-04, Vol.131 (4), p.1227-1230.e3
Hauptverfasser: Henderson, Lauren A., MD, Frugoni, Francesco, PhD, Hopkins, Gregory, BS, Al-Herz, Waleed, MD, Weinacht, Katja, MD, Comeau, Anne Marie, PhD, Bonilla, Francisco A., MD, PhD, Notarangelo, Luigi D., MD, Pai, Sung-Yun, MD
Format: Artikel
Sprache:eng
Schlagworte:
Adenylate Kinase - genetics
Adenylate Kinase - immunology
Allergy and Immunology
Biological and medical sciences
Consanguinity
Fundamental and applied biological sciences. Psychology
Fundamental immunology
Humans
Immune system
Immunodeficiencies
Immunodeficiencies. Immunoglobulinopathies
Immunopathology
Infant, Newborn
Leukopenia - complications
Leukopenia - genetics
Leukopenia - immunology
Leukopenia - pathology
Lymphocytes
Male
Medical sciences
Mutation
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
Severe Combined Immunodeficiency - complications
Severe Combined Immunodeficiency - genetics
Severe Combined Immunodeficiency - immunology
Severe Combined Immunodeficiency - pathology
T cell receptors
T-Lymphocytes - immunology
T-Lymphocytes - pathology
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Zusammenfassung:[...]AK2 should be added to the list of severe combined immunodeficiency-causing genes that may manifest as OS.  Birth 6 wk 8 wk 10 wks/p MP, CsA Normal values WBC (K cells/μL) 0.350 3.36 8.33 1.43 7.20-18.00 ANC (K cells/μL) N/A 0 0.08 0.09 2.57-7.54 ALC (K cells/μL) N/A 3.16 7.96 1.43 3.40-7.60 IgA (mg/dL) 0
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2012.07.045