Immunodeficiency, Centromeric Region Instability, Facial Anomalies Syndrome 1
The immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and centromeric instability. We describe a 14-month-old female child with recurrent infections, facial anomalies...
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| Format: | Article |
| Language: | English |
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Jaypee Brothers Medical Publisher
2023-12-01
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| Series: | Pediatric Infectious Disease |
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| Online Access: | https://www.pidjournal.com/doi/PID/pdf/10.5005/jp-journals-10081-1406 |
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| author | Kalyani Srinivas Prajnya Ranganath Palle Sreelekha Kalivela Santhimayee Shaik Mahin |
| author_facet | Kalyani Srinivas Prajnya Ranganath Palle Sreelekha Kalivela Santhimayee Shaik Mahin |
| author_sort | Kalyani Srinivas |
| collection | DOAJ |
| description | The immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and centromeric instability. We describe a 14-month-old female child with recurrent infections, facial anomalies, and psychomotor retardation. The child had recurrent admissions for fever, cough, and cold—7 times and required intensive care unit (ICU) stay for pneumonia twice at 4 and 9 months of age, urinary tract infection at 4 months of age, febrile seizures at 9 months of age, and left otitis media at 13 months of age. Serum immunoglobulin G (IgG), IgA, and IgM deficiency levels were low. Further evaluation for immunodeficiency revealed a homozygous variant in the deoxyribonucleic acid methyltransferase 3B (DNMT3B) gene at exon 22 c.2401T>C variant. |
| format | Article |
| id | doaj-art-1b21d3039bda43e2ac75705ce4a8b15f |
| institution | Kabale University |
| issn | 2582-4988 |
| language | English |
| publishDate | 2023-12-01 |
| publisher | Jaypee Brothers Medical Publisher |
| record_format | Article |
| series | Pediatric Infectious Disease |
| spelling | doaj-art-1b21d3039bda43e2ac75705ce4a8b15f2025-08-20T03:44:32ZengJaypee Brothers Medical PublisherPediatric Infectious Disease2582-49882023-12-015412913110.5005/jp-journals-10081-14065Immunodeficiency, Centromeric Region Instability, Facial Anomalies Syndrome 1Kalyani Srinivas0Prajnya Ranganath1Palle Sreelekha2Kalivela Santhimayee3Shaik Mahin4https://orcid.org/0000-0001-9695-4615Department of Pediatrics, Institute of Women and Child Health, Niloufer Hospital, Hyderabad, Telangana, IndiaDepartment of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, IndiaDepartment of Pediatrics, Institute of Women and Child Health, Niloufer Hospital, Hyderabad, Telangana, IndiaDepartment of Pediatrics, Institute of Women and Child Health, Niloufer Hospital, Hyderabad, Telangana, IndiaShaik Mahin, Department of Pediatrics, Institute of Women and Child Health, Niloufer Hospital, Hyderabad, Telangana, India, Phone: +91 7207235057The immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and centromeric instability. We describe a 14-month-old female child with recurrent infections, facial anomalies, and psychomotor retardation. The child had recurrent admissions for fever, cough, and cold—7 times and required intensive care unit (ICU) stay for pneumonia twice at 4 and 9 months of age, urinary tract infection at 4 months of age, febrile seizures at 9 months of age, and left otitis media at 13 months of age. Serum immunoglobulin G (IgG), IgA, and IgM deficiency levels were low. Further evaluation for immunodeficiency revealed a homozygous variant in the deoxyribonucleic acid methyltransferase 3B (DNMT3B) gene at exon 22 c.2401T>C variant.https://www.pidjournal.com/doi/PID/pdf/10.5005/jp-journals-10081-1406case reportfacial dysmorphismprimary immune deficiency |
| spellingShingle | Kalyani Srinivas Prajnya Ranganath Palle Sreelekha Kalivela Santhimayee Shaik Mahin Immunodeficiency, Centromeric Region Instability, Facial Anomalies Syndrome 1 Pediatric Infectious Disease case report facial dysmorphism primary immune deficiency |
| title | Immunodeficiency, Centromeric Region Instability, Facial Anomalies Syndrome 1 |
| title_full | Immunodeficiency, Centromeric Region Instability, Facial Anomalies Syndrome 1 |
| title_fullStr | Immunodeficiency, Centromeric Region Instability, Facial Anomalies Syndrome 1 |
| title_full_unstemmed | Immunodeficiency, Centromeric Region Instability, Facial Anomalies Syndrome 1 |
| title_short | Immunodeficiency, Centromeric Region Instability, Facial Anomalies Syndrome 1 |
| title_sort | immunodeficiency centromeric region instability facial anomalies syndrome 1 |
| topic | case report facial dysmorphism primary immune deficiency |
| url | https://www.pidjournal.com/doi/PID/pdf/10.5005/jp-journals-10081-1406 |
| work_keys_str_mv | AT kalyanisrinivas immunodeficiencycentromericregioninstabilityfacialanomaliessyndrome1 AT prajnyaranganath immunodeficiencycentromericregioninstabilityfacialanomaliessyndrome1 AT pallesreelekha immunodeficiencycentromericregioninstabilityfacialanomaliessyndrome1 AT kalivelasanthimayee immunodeficiencycentromericregioninstabilityfacialanomaliessyndrome1 AT shaikmahin immunodeficiencycentromericregioninstabilityfacialanomaliessyndrome1 |