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Humoral Immune Deficiency and Hemifacial Microsomia Seen in One Family

Year: 2009

Type: article

Abstract: We present a patient with hemifacial microsomia and immune deficiency. The patient is a 5-year-old with grade III microtia and Pruzansky type I right mandibular hypoplasia. She developed 25 pulmonary infections in 3 years, required hospitalization every 6 weeks to receive antibiotics, and experienced recurrent herpes stomatitis and esophagitis, staphylococcal bacteremia, urinary tract, sinus, and ear infections. She had low total IgG, IgG1, IgG2, IgA, and anti-pneumococcal antibody levels. She was unable to maintain protective pneumococcal titers following vaccination. The patient's 7-year-old sister also suffered from recurrent infections, had a left facial skin tag, and a left arachnoid cyst. We conclude that immune deficiency can occur in association with hemifacial microsomia.

Source: The Cleft Palate-Craniofacial Journal

DOI: 10.1597/08-169.1

Authors: Zamaneh Mikhak, John B. Mulliken, John Lee, Francisco A. Bonilla, Virginia E. Kimonis

Institutions: Harvard University, Massachusetts General Hospital, Boston Children's Hospital, University of California, Irvine Medical Center

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2173463615

FWCI: 0.138

Cites: 18

Cited by: 2

Related to: 10