Table 2 Description of children with confirmed PID at the 3-month evaluation (n = 3).
Patient no | 5 | 25 | 39 |
|---|---|---|---|
Age (y) | 9,8 | 0,7 | 0,1 |
Sex | M | M | M |
Intensive care duration (days) | 2 | 3 | 1 |
Comorbidities/background | 0/consanguinity | 0/0 | 0/0 |
JMF/DSAI/CEREDIH | 0 | 0 | 0 |
Infection type (pathogen) | Meningitis (Haemophilus influenzae b) | Viral infection (Adenovirus, Coronavirus and Enterovirus), revealed by complex seizures | Septic shock in context of urachal duct abscess (Klebsiella aerogenes) |
Anomalies at 1st immunological investigation | Low C5 | Poor response to pneumococcal vaccine, CD8 + T and B lymphopenia | Severe neutropenia |
Diagnostic of PID | Complete C5 deficiency : homozygous deletion of 3 nucleotides c.960_962del/p.Asn320del on exon 9 of the C5 gene | 22q11.21 heterozygous deletion of approximatively 1409 Mb (chr. Arr [GRCh37] 22q11.21(19943533_21353296) × 1); (Di George syndrome) | Congenital neutropenia: heterozygous deleterious variant c.640G > A/p. Gly214.Arg on exon 5 of the ELANE gene, de novo |
Treatment | Antibiotic treatment and prophylaxis ; vaccination against encapsulated pathogens | Antibiotic prophylaxis ; Vaccination against encapsulated pathogens and flu | Antibiotic treatment and prophylaxis ; Allogenic stem cell transplant |
