Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Ind
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National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. *[email protected]
REFERENCES 1. Dhanrajani A, Khubchandani RP. Modified regimen of etanercept for tumor necrosis factor receptor associated periodic syndrome (TRAPS) like illness. Indian Pediatr. 2014;51:55-7. 2. Zhou Q, Yang D, Ombrello A, Zavialov A, Toro C, Zavialov A, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014; 370:911-20. 3. Navon Elkan P, Pierce S, Segel R, Walsh T, Barash J, Padeh S, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med. 2014;370:921-31. 4. Meyts I, Aksentijevich I. Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the phenotype, genetics, pathogenesis, and treatment. J Clin Immunol. 2018;38:569-78. 5. Sharma A, Naidu G, Chattopadhyay A, Acharya N, Jha S, Jain S. Novel CECR1 gene mutations causing deficiency of adenosine deaminase 2, mimicking antiphospholipid syndrome. Rheumatology. 2019;58:181-2. 6. Ombrello A, Qin J, Hoffmann P, Kumar P, Stone D, Jones A, et al. Treatment strategies for deficiency of adenosine deaminase 2. N Engl J Med. 2019; 380:1582-4.
In conclusion, pediatricians in India must be aware of this recently discovered entity and its myriad presentations, including PAN, early-onset strokes, arterial obliterations, immunodeficiency, and aplastic anemia. With high rates of consanguinity and endogamy in several parts of India, we believe more patients of hereditary auto-inflammatory diseases would be diagnosed with increasing physician awareness and availability of genetic testing. Published online: August 14, 2020; PII: S097475591600231
RAJU KHUBCHANDANI1* AND IVONA AKSENTIJEVICH2 1Department of Pediatric Rheumatology, SRCC Children’s Hospital, Mumbai, India; and 2Inflammatory Disease Section,
Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family
C
risponi/cold induced sweating syndrome type 1 (CS/ CISS1; Mendelian Inheritance in Man [MIM] #272430), a rare autosomal recessive disorder, is possibly under-recognised due to its complex phenotype with likely misinterpretation of symptoms. Worldwide, there are fewer than 100 reported cases and we present the second Indian patient with a CRLF1 genetic mutation [1-4]. A 1½-month-boy presented with intermittent high-grade fever, episodic contractions of facial and neck muscles and feeding difficulties since birth. He was sixth born to a non-consanguineous healthy couple hailing from North India. There was history of two sibling deaths, a male and a female in third week of life. Both the babies were born at term gestation, had normal birth weight but associated with birth asphyxia followed by progressive feeding abnormalities and abnormal posturing. His three elder female siblings were all alive and
INDIAN PEDIATRICS
healthy. There was history of one spontaneous abortion in mother. Antenatal course of the present pregnancy was uneventful; mother recei
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