[CIS PIDD] [cis-pidd] 22q11 deletion combined with MPO deficiency

[CIS-PIDD]

Dear All

Has anyone previously seen this combination of two distinct PID in the same child?
Born at 29 weeks and had possible N.E.C during his stay in the neonatal unit. He also had sepsis which required ventilation. He has had two paediatric intensive care unit admissions, one in October 2013 with bronchiolitis and February 2015 with a lower respiratory tract infection (Candida albicans was identified from his secretions at this stage and from a throat swab previously in Nov 2013).
He has had minimal intercurrent illness aside from these two PICU admissions, but over recent months had recurrent febrile episodes: mainly upper respiratory tonsillitis/otitis media , but no obvious mucocutaneous candidiasis.
He has mild global developmental delay ( 22q 11 deletion identified at 18 months as part of his work up for delay).
Myeloperoxidase deficiency was identified in June 2016 after abnormal DHR as part of immunology work up.
On examination he is active. Tone is generally low. ENT examination is normal and there is no lymphadenopathy. His chest is clear. Cardiovascular and abdominal examinations were also normal. There was no skin rash and his nails are normal.

Investigations
Immunoglobulins, IgG subclasses, Classical and alternate complement pathways normal

Lymphocyte Count          3.61
CD3 abs                                2.08
CD4 abs                                1.10
CD8 abs                                0.85
CD19 abs                              0.88
CD16/56 abs                       0.62

HRCT chest
Heterogenous lung parenchyma with ground-glass pattern, septal thickening and honeycombing suggestive of extensive inflammation including consolidation.

He is currently receiving a 4 week course of oral fluconazole treatment with continued cotrimoxazole prophylaxis pending BAL.

Any thoughts gratefully received
Thanks
David


Dr J. David Edgar
Consultant Immunologist & Senior Lecturer
Regional immunology Service
The Royal Hospitals
Belfast BT12 6BN

Ph: +442890630003
Fax: +442890635482




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