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 CASE REPORT
Year : 2015  |  Volume : 61  |  Issue : 1  |  Page : 46-48

Hyperimmunoglobulin syndrome due to CD40 deficiency: Possibly the first case from India


1 Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohematology, Indian Council of Medical Research (ICMR), KEM Hospital Campus, Mumbai, Maharashtra, India
2 Department of Immunology, Wadia Hospital, Mumbai, Maharashtra, India

Correspondence Address:
Dr. M Madkaikar
Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohematology, Indian Council of Medical Research (ICMR), KEM Hospital Campus, Mumbai, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0022-3859.147053

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Hyperimmunoglobulin M (HIGM) type 3 due to CD40 deficiency is a very rare syndrome. Only 16 cases have been reported thus far. The clinical presentation is very variable. We present the first case of this rare disorder from India. The case is of a two-and-a-half-year-old female, with a history of repeated episodes of skin infections and diarrhea since birth. Laboratory evaluation revealed elevated absolute lymphocyte count and an absolute neutrophil count (ANC) of 1026/mm 3 . The lymphocyte subset analysis showed normal absolute counts of Natural Killer (NK) cells and elevated absolute counts of T-cells (CD4 and CD8) and B-cells. The serum immunoglobulin estimation showed low levels of IgG, IgA, IgE and an elevated level of IgM. The CD154 analysis was normal and expression of CD40 was absent on the B-cells. Molecular analysis showed a novel mutation, with deletion of 3bp (AAG) [p.Glu107GlyfsX84] in the homozygous state, in the CD40 gene. Thus the patient was diagnosed as HIGM type 3. The parents were screened and counseled regarding prenatal diagnosis at the time of next pregnancy.






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Online since 12th February '04
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