Poster Display Innate Immunity

CLINICAL PHENOTYPE OF A PATIENT WITH BCL10 DEFICIENCY

Lecture Time
10:21 - 10:22
Presenter
  • Ambreen A. Pandrowala, India
Room
Poster Area
Date
19.09.2019, Thursday
Session Time
10:00 - 17:00
Board Number
148
Presentation Topic
Innate Immunity

Abstract

Background and Aims

CARD protein–BCL-10–MALT1 (CBM) signalosomes are signalling complexes involved in NF KB activation. Defects in MALT1, CARD9 and CARD 11 have been described. There is only one reported case in literature of Bcl 10 deficiency. We present a child with a nonsense mutation in Bcl10 resulting in premature truncation of the protein.

Methods

Materials and method- Retrospectively analysis of a patient diagnosed as Bcl10 deficiency was analysed.

Results

6 month old boy, born of 3rd degree consanguineous marriage with history of sibling death was referred post an intensive care admission for viral lower respiratory tract infection with palatal ulcers.A baseline immune workup showed normal lymphocyte subsets including naïve T cells and low Ig G, A and M.A differential of transient hypogammaglobulinemia of infancy was considered.On follow up, he maintained a good IgG level without replacement.

At 11 months of age, he had fever with sudden onset respiratory distress. On examination, he was tachypnoeic, maintain saturations on O2 by nasal cannula and had bilateral crepts. Evaluation showed eosinophilia and bilateral infiltrates on the chest Xray.BAL was positive for galactomannan, chest CT didn’t show any evidence of fungal infection. He was started on voriconazole with complete recovery. Next generation sequencing showed a homozygous nonsense variation in exon 2 of the BCL10 gene (chr1:85736385G>A) that resulted in a stop codon and premature truncation of the protein at codon 88. On follow up, he developed a flare of the BCG scar.

Conclusions

BCL10 and MALT 1 phenotype described include susceptibility to fungal, bacterial and viral infections as seen in our patient.

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