" /> C4 Deficiency - CISMeF





Preferred Label : C4 Deficiency;

Alternative definition : NICHD: Lack of production of functional C4 protein, due to a genetic defect requiring homozygous loss of both the C4A and C4B genetic paralogs. Approximately 75% of patients with a C4 deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.;

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31/07/2025


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