ARDS as presenting symptom in an infant with CD40L deficiency (Hyper-IgM syndrome Type 1).
We report on a 4 month old male infant with respiratory syncytial virus (RSV) infection leading to acute respiratory distress syndrome (ARDS). A diagnostic algorithm including extended infectiological and immunological work-up revealed absence of CD40-ligand. ARDS was treated successfully with a complex respiratory therapy plus intravenous immunoglobulin substitution. Molecular analysis detected mutations in the CD40L gene (Hyper-IgM syndrome Type 1). The case underlines the importance of an extended diagnostic work-up in an uncommonly severe course of respiratory infection in early infancy.
Fremerey
C
C
Department of Neonatology and Pediatric Intensive Care, Asklepios Klinik St. Augustin, Germany. c.fremerey@asklepios.com
Wiebe
B
B
Feyen
O
O
Lenski
C
C
Pohlmann
U
U
Ehlen
M
M
Schofer
O
O
Meindl
A
A
Niehues
T
T
Bartmann
P
P
D000465:Algorithms; D023201:CD40 Ligand / Q000172:deficiency* / Q000235:genetics*; D003422:Critical Care / Q000379:methods; D003586:Cytomegalovirus Infections / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005091:Exons; D006801:Humans; D053307:Hyper-IgM Immunodeficiency Syndrome, Type 1 / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D007223:Infant; D008297:Male; D009894:Opportunistic Infections / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D012128:Respiratory Distress Syndrome / Q000175:diagnosis*; D018357:Respiratory Syncytial Virus Infections / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy
D023201:CD40 Ligand