Genetic workup as a complementary tool for the diagnosis of primary complement component deficiencies: a multicenter experience

Diagnosis of primary complement deficiencies requires a high index of suspicion. Thus, susceptible patients are often underdiagnosed and untreated. Here, we present a multicenter experience with two novel inborn errors of the classical complement system. This is a retrospective multicenter analysis...

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Veröffentlicht in:	European journal of pediatrics 2022-05, Vol.181 (5), p.1997-2004
Hauptverfasser:	Shamriz, Oded, Simon, Amos J., Frizinsky, Shirley, Lev, Atar, Megged, Orli, Barel, Ortal, Marcus, Nufar, Tal, Yuval, Somech, Raz, Toker, Ori
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Children Complement C6 Complement C8 - genetics Complement system Complement System Proteins - genetics Consanguinity Diagnosis Exons Female Hereditary Complement Deficiency Diseases Humans Male Medical diagnosis Medical records Medicine Medicine & Public Health Meningitis Meningitis, Meningococcal Meningococcal Infections Mutation Neisseria meningitidis Original Article Patients Pediatrics Retrospective Studies Risk factors
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Zusammenfassung:	Diagnosis of primary complement deficiencies requires a high index of suspicion. Thus, susceptible patients are often underdiagnosed and untreated. Here, we present a multicenter experience with two novel inborn errors of the classical complement system. This is a retrospective multicenter analysis of computerized medical records of children (
ISSN:	1432-1076 0340-6199 1432-1076
DOI:	10.1007/s00431-022-04397-9