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Success Story – Mazen

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Age 09 months, T-ve, B-ve, NK+ve Severe Combined Immunodeficiency

Mazen

Contributed By: Dr. Tariq Ghafoor

Mazen is the 1st born child of consanguineous parents delivered via LSCS. He remained well for initial two months of age and then developed erythematous skin rashes relieved by topical and parental steroid. He had high grade fever at the age of 3 month requiring treatment with IV antibiotics. CBC at that time showed lymphopenia. He was admitted in private hospital at the age of 5 month with high grade fever with bilateral ear discharge and skin rashes. Lymphocyte subset analysis was suggestive of Severe combined immune deficiency syndrome (SCID).

He was again admitted at the age of 8 month with right foot abscess, for which 2 finger amputations were done along with antibiotic cover. His pus C/S revealed growth of Klebsiella pneumonia and was given Ceftazidime, Avibactam and Cap Chloramphenicol for four weeks. He was given 3 doses of prophylactic IVIG.

Mazen was fully HLA matched with Grand-mother (Nani) with Major ABO mismatch.

Conditioning protocol used was Flu150, Treo36, TG7.5, and Post Cy50

Neutrophil Engraftment was achieved on day +14. Mazen remained well after discharge from transplant ward.

His immunosuppression (MMF) was gradually tapered and stopped later. He developed mild skin rash and was managed as skin GVHD stage 1 with topical steroids. He was on regular IVIG replacement till February 2024.

Mazen was last seen in OPD on Day+ 135. He is clinically very well. His Skin GVHD has settled and he has no active issue.