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COMPLEMENT FACTOR D DEFICIENCY; CFDD

COMPLEMENT FACTOR D DEFICIENCY; CFDD

Alternative titles; symbolsFACTOR D DEFICIENCY▼ DescriptionComplement factor D deficiency is an autosomal recessive immunologic disorder characterized by increas...

Alternative titles; symbols

  • FACTOR D DEFICIENCY

▼ Description
Complement factor D deficiency is an autosomal recessive immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway (summary by Biesma et al., 2001).

▼ Clinical Features
Kluin-Nelemans et al. (1984) described a partial functional deficiency of factor D in 2 Dutch adult monozygous female twins with recurrent bacterial respiratory infections since childhood.

Hiemstra et al. (1989) reported a 24-year-old Dutch man with recurrent Neisseria infections. Laboratory studies found no detectable serum complement factor D hemolytic activity, and absence of measurable amounts of factor D antigen. Addition of purified factor D to the patient's serum restored full activity of the alternative complement pathway. The sister and the father, as well as the parents of the mother, had factor D levels within the normal range; the factor D level of the mother was decreased.

Biesma et al. (2001) reported a 23-year-old Dutch woman, born of consanguineous parents, with septic shock due to Neisseria meningitidis in blood and cerebrospinal fluid. A deceased family member had a history of recurrent bacterial meningitis. Laboratory studies showed absence of factor D activity in the proband. However, absence of factor D activity was also found in 3 family members who did not have a history of recurrent infections. Combined with the earlier observation of Hiemstra et al. (1989), this finding suggested that factor D deficiency predisposes to invasive meningococcal disease. None of the reported patients was obese.

Sprong et al. (2006) reported a Turkish brother and sister with invasive meningococcal disease. The 19-month-old girl was admitted with purpura, high fever, coughing, diarrhea, and vomiting. Cerebrospinal fluid cultures grew N. meningitidis. She died in refractory shock about 47 hours after hospital admission. Four years later, the 13-month-old brother was admitted to the same hospital because of sudden onset of fever and a petechial rash. At the age of 4 months, he had been hospitalized for a respiratory syncytial virus infection complicated by bacterial superinfection. Blood cultures grew N. meningitidis. Immunologic studies indicated that factor D was undetectable. Because of this deficiency, the boy was put on antibiotic prophylaxis and was vaccinated for N. meningitidis.

▼ Inheritance
Complement factor D deficiency is inherited in an autosomal recessive pattern (Biesma et al., 2001).

▼ Molecular Genetics
In a Dutch family with factor D deficiency, Biesma et al. (2001) identified a homozygous mutation in the CFD gene (134350.0001).

In 2 children of a Turkish family with N. meningitis due to complement factor D deficiency, Sprong et al. (2006) identified a homozygous mutation in the factor D gene (134350.0002).

Tags: 19p13.3