MSMD in a 3-Generation Multiplex Kindred Due to Autosomal Dominant STAT1 Deficiency
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LETTER TO EDITOR
MSMD in a 3-Generation Multiplex Kindred Due to Autosomal Dominant STAT1 Deficiency Sagar Bhattad 1
&
Jeeson Unni 2 & Sonny Varkey 3
Received: 31 July 2020 / Accepted: 7 October 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
To the Editor, Mendelian susceptibility to mycobacterial disease (MSMD) comprises a group of disorders characterized by increased risk of infections with less virulent mycobacteria and Mycobacterium bovis bacillus Calmette Guerien (BCG). Multifocal osteomyelitis is a characteristic feature of autosomal dominant (AD) partial IFNγR1 deficiency, autosomal recessive (AR) partial IFNγR1 deficiency, and AD STAT1 deficiency [1]. We report three affected members in a family with AD STAT1 deficiency, highlighting variable penetrance of this entity. This is the first report of STAT1 deficiency from the Indian subcontinent. A 6-month-old boy (P1), born to a non-consanguineous Indian couple (pedigree, Sup Fig. 1), presented with fever and rashes over trunk and face, along with ulceration at the BCG vaccination site. He had no history of oral thrush, ear discharge, chronic diarrhea, or previous hospitalizations and was thriving well. Examination revealed a chubby-looking child, with a blanchable reddish rash over face and trunk, hepatosplenomegaly, and an ulcerated BCG site (Fig. 1a). Evaluation showed hemoglobin 6.6 g/dl, white cell counts 23.8 × 109/L, platelet counts 568 × 109/L. Blood culture was sterile. As the child refused handling and had paradoxical cry upon lifting, magnetic resonance imaging (MRI) of the limbs was carried out that revealed multifocal osteomyelitis affecting all the long bones (Fig. 1b). Liver and bone marrow biopsy Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10875-020-00890-8) contains supplementary material, which is available to authorized users. * Sagar Bhattad [email protected] 1
Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Aster CMI Hospital, Bangalore, India
2
Department of Pediatrics, Aster Medcity, Kochi, India
3
Department of Dermatology, Skin Clinic, Kochi, India
showed granulomatous inflammation, acid fast staining was negative, and culture grew non-tubercular mycobacteria (NTM). The speciation of NTM was attempted using Genotype CM kit (line probe assay), but we were unable to decipher the species. Speciation of NTM can be done by whole exome sequencing, which could not be performed in the index case. Drug susceptibility testing was done by MGIT960 using standard protocol. Immunological workup was unrewarding (hypergammaglobulinemia, normal lymphocyte subsets: CD3, 4249/mm3; CD19, 3530/mm3; CD56, 1165/mm3; and preserved oxidative burst in neutrophils). At admission, he was thought to have bacterial osteomyelitis and treated with broad spectrum intravenous antibiotics. In view of the biopsy findings of granulomatous disease and ulcerated BCG site, possibility of disseminated BCG infection was considered, and he was initiated o
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