Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias.
B+NK+SCID (severe combined immunodeficiency) due to IL7Rα deficiency represents approximately 10% of American SCID cases. To better understand the spectrum of autoimmune disorders associated with IL7Rα deficiency, we describe two unrelated IL7Rα-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 4months 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.C118Y 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.
Department of Pediatrics, Faculdade de Medicina da Universidade de São Paulo, Brazil.
Claudia Augusta
CA
Zago
Department of Pediatrics, Faculdade de Medicina da Universidade de São Paulo, Brazil.
Cristina Miuki Abe
CM
Jacob
Department of Pediatrics, Faculdade de Medicina da Universidade de São Paulo, Brazil; Hospital Universitário (HU) da Universidade de São Paulo, Brazil.
Edna Maria
EM
de Albuquerque Diniz
Hospital Universitário (HU) da Universidade de São Paulo, Brazil.
Silvana Maria
SM
Lovisolo
Hospital Universitário (HU) da Universidade de São Paulo, Brazil.
Maria Claudia Nogueira
MC
Zerbini
Department of Pediatrics, Faculdade de Medicina da Universidade de São Paulo, Brazil.
Mayra
M
Dorna
Department of Pediatrics, Faculdade de Medicina da Universidade de São Paulo, Brazil.
Letícia
L
Watanabe
Department of Pediatrics, Faculdade de Medicina da Universidade de São Paulo, Brazil.
Juliana Folloni
JF
Fernandes
Department of Pediatrics, Faculdade de Medicina da Universidade de São Paulo, Brazil.
Vanderson
V
Rocha
Immunology Service, National Institutes of Health, USA.
João Bosco
JB
Oliveira
Department of Pediatrics, Faculdade de Medicina da Universidade de São Paulo, Brazil. Electronic address: magdascs@usp.br.
Magda
M
Carneiro-Sampaio
D001483:Base Sequence; D036101:Cord Blood Stem Cell Transplantation; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009154:Mutation; D011697:Purpura, Thrombotic Thrombocytopenic / Q000235:genetics* / Q000276:immunology / Q000473:pathology / Q000628:therapy; D020395:Receptors, Interleukin-7 / Q000235:genetics* / Q000276:immunology; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000276:immunology / Q000473:pathology
D020395:Receptors, Interleukin-7
Autoimmune cytopenias; Eosinophilic myocarditis; IL7Rα deficiency; Omenn syndrome; Primary immunodeficiencies; SCID