Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias

作者：Zago Claudia Augusta; Abe Jacob Cristina Miuki; de Albuquerque Diniz Edna Maria; Lovisolo Silvana Maria; Nogueira Zerbini Maria Claudia; Dorna Mayra; Watanabe Leticia; Fernandes Juliana Folloni; Rocha Vanderson; Oliveira Joao Bosco; Carneiro Sampaio Magda^*

来源：Human Immunology, 2014, 75(7): 662-666.

DOI：10.1016/j.humimm.2014.04.006

• IL7R alpha deficiency
• SCID
• Omenn syndrome
• Autoimmune cytopenias
• Eosinophilic myocarditis
• Primary immunodeficiencies

B+NK+SCID (severe combined immunodeficiency) due to IL7R alpha deficiency represents approximately 10% of American SCID cases.
To better understand the spectrum of autoimmune disorders associated with IL7R alpha deficiency, we describe two unrelated IL7R alpha-deficient female SCID infants whose clinical picture was dominated by autoimmune manifestations: one with intrauterine Omenn syndrome (OS) and another with persistent thrombocytopenic purpura since 4 months of age. The OS baby harbored a homozygous p.C118Y mutation in IL7R. She presented dense eosinophilic infiltrates in several organs, including pancarditis, which may have contributed to her death (on the 2nd day of life). B cells were observed in lymph nodes, spleen, bone marrow and thymus. The second patient harbored compound heterozygous p.01 8Y and p.I121NfsX8 mutations. She underwent a successful unrelated cord blood transplant.
In conclusion, early OS can be observed in patients with IL7R mutations, and autoimmune cytopenias could also complicate the clinical course of SCID babies with this type of defect.

• 出版日期2014-7