title: A case with ICF syndrome lost to rubella pneumonitis.
abstract: The immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder characterized by variable immunodeficiency, instability of the pericentromeric heterochromatin, and facial dysmorphism. Here we report a new case of ICF syndrome who died of rubella pneumonitis. A six year-old-girl who was the first child of consanguineous parents was admitted to the hospital because of bronchopneumonia. Laboratory investigations revealed pan-hypogammaglobulinemia, lymphoperria, normal proportions of peripheral blood lymphocytes with an inverted CD4/CD8 ratio, and interstitial pneumonia with a positive serology of acute rubella infection. The ICF syndrome was diagnosed by centromeric instability in the standard cytogenetic analysis. An inclusion body was demonstrated in the lung biopsy after the death of the patient. Chromosomal investigation could be helpful along with other tests for diagnosis of variable immunodeficiency accompanied by facial dysmorphism.
authors.affiliation: Department of Pediatrics, Selçuk University Meram Faculty of Medicine, Konya, Turkey.
authors.forename: Ismail
authors.initials: I
authors.lastname: Reisli
authors.forename: Mahmut Selman
authors.initials: MS
authors.lastname: Yildirim
authors.forename: Yavuz
authors.initials: Y
authors.lastname: Köksal
authors.forename: Mustafa Cihat
authors.initials: MC
authors.lastname: Avunduk
authors.forename: Aynur
authors.initials: A
authors.lastname: Acar
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D016516:CD4-CD8 Ratio; D002503:Centromere / Q000235:genetics; D002648:Child; D043171:Chromosomal Instability; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005334:Fever / Q000209:etiology; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007073:Immunoglobulin E / Q000097:blood; D007074:Immunoglobulin G / Q000097:blood; D007075:Immunoglobulin M / Q000097:blood; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000276:immunology / Q000473:pathology; D017563:Lung Diseases, Interstitial / Q000209:etiology* / Q000382:microbiology; D018655:Lymphocyte Count; D008231:Lymphopenia / Q000276:immunology; D012409:Rubella / Q000150:complications* / Q000276:immunology; D013577:Syndrome
chemical_list: D007070:Immunoglobulin A; D007074:Immunoglobulin G; D007075:Immunoglobulin M; D007073:Immunoglobulin E