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Immunodeficiency, Centromeric Region Instability, Facial Anomalies Syndrome 1

Year: 2023
Type: article
Study design: Case Report
Abstract: Allogeneic hematopoietic cell transplantation (HCT) in patients with severe disease corrects the immunodeficiency and improves growth. Case DesCriptionA 14-month-old female child born of third-degree consanguinity, full term with history of recurrent admissions for fever, cough, cold-7 times, and intensive care unit (ICU) stay twice at 4 and 9 months of age for pneumonia, urinary tract infection at 4 months of age, febrile seizures at 9 months of age, and left otitis media at 13 months of age.There was a family history of early neonatal deaths in two male siblings and one maternal male cousin.At 13 months of age, a detailed assessment was conducted due to recurring infections.The results of immunological investigations demonstrated the presence of hypogammaglobulinemia, which is characterized by diminished levels of IgG and IgA in the serum.
Language: English
Subfield: Immunology
Open Access status: diamond
OpenAlex ID: W4389761925
FWCI:
Cites: 3
Cited by:
Related to: 10