Whole exome sequencing identified a novel splice donor site variant in interleukin 2 receptor alpha chain

Waheed, Nadia K.; Naseer, Maryam; Haider, Nighat; Suleman, Sufyan; Ullah, Asmat

doi:10.1007/s00251-022-01278-1

Cited by 4 publications

(4 citation statements)

References 19 publications

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“…The first report of KIF12 mutation causing high GGT genetic cholestasis was published in the year 2019 by two independent case series [5, 6]. Following this discovery, other researchers have also reported similar cases of KIF12‐associated pediatric cholestasis resulting in a total of 21 published cases in the last 3–4 years [7–9]. Recently from India also, two such patients have been reported from northern and southern regions in 2023 [10, 11].…”

Section: Discussionmentioning

confidence: 99%

“…Patients with KIF12‐associated intrahepatic cholestasis have been reported to have a highly heterogeneous clinical spectrum ranging from milder phenotypes to rapidly progressive liver fibrosis and cirrhosis even within the members of the same family [9]. Typically, they present in infancy or early childhood with jaundice, pruritus, and hepatomegaly which can progress later on to a decompensated liver disease state with ascites/coagulopathy.…”

Section: Discussionmentioning

confidence: 99%

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Youngest Living Donor Liver Transplant for End‐Stage Liver Disease in a 6‐Month‐Old With a Novel Aggressive Mutation in KIF12 Gene

Gautam,

Panda,

Kumar

et al. 2024

Pediatric Transplantation

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BackgroundKinesin family member 12 (KIF12) mutation‐related cholestatic disorder represents a rare subtype of progressive familial intrahepatic cholestasis (PFIC), referred to as PFIC Type 8, with only 21 reported cases globally to date.MethodsHere, we present a unique case of a 6‐month‐old boy diagnosed with homozygous KIF12 gene mutation, who successfully underwent a living donor liver transplant at our center for end‐stage liver disease.ResultsThis case marks the youngest patient of KIF12‐related cholestatic disorder necessitating a liver transplant to date. The child initially presented with neonatal cholestasis and then developed infantile hepatic decompensation. Our report discusses the diagnostic process and management strategies employed. It underscores the importance of prompt diagnosis through clinical suspicion, biochemical parameters, and genetic testing, as well as the adoption of suitable management strategies, including the early contemplation of liver transplant in such exceptional and rare cases of genetic intrahepatic cholestasis.ConclusionKIF12‐related genetic disease should be considered in neonatal cholestasis cases with high gamma glutamyl transpeptidase to differentiate from conditions like biliary atresia. Favorable outcomes post liver transplant stress the importance of early genetic testing and referral to liver transplant centers for unresponsive patients, potentially saving lives.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Youngest Living Donor Liver Transplant for End‐Stage Liver Disease in a 6‐Month‐Old With a Novel Aggressive Mutation in KIF12 Gene

Gautam,

Panda,

Kumar

et al. 2024

Pediatric Transplantation

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“…IL-2 is required for both the initiation and maintenance of adaptive T cell responses and the survival and function of FOXP31 Treg cells. Manifestations include enteropathy, autoimmune manifestations, and lymphoproliferation [ 30 , 31 , 32 ]. Impaired Treg and T cell function underlies the clinical picture.…”

Section: Syndromes With Autoimmunity Due To Treg Defectsmentioning

confidence: 99%

Infections in Disorders of Immune Regulation

Thangaraj,

Tyagi,

Suri

et al. 2024

Pathogens

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Primary immune regulatory disorders (PIRDs) constitute a spectrum of inborn errors of immunity (IEIs) that are primarily characterized by autoimmunity, lymphoproliferation, atopy, and malignancy. In PIRDs, infections are infrequent compared to other IEIs. While susceptibility to infection primarily stems from antibody deficiency, it is sometimes associated with additional innate immune and T or NK cell defects. The use of immunotherapy and chemotherapy further complicates the immune landscape, increasing the risk of diverse infections. Recurrent sinopulmonary infections, particularly bacterial infections such as those associated with staphylococcal and streptococcal organisms, are the most reported infectious manifestations. Predisposition to viral infections, especially Epstein–Barr virus (EBV)-inducing lymphoproliferation and malignancy, is also seen. Notably, mycobacterial and invasive fungal infections are rarely documented in these disorders. Knowledge about the spectrum of infections in these disorders would prevent diagnostic delays and prevent organ damage. This review delves into the infection profile specific to autoimmune lymphoproliferative syndrome (ALPS), Tregopathies, and syndromes with autoimmunity within the broader context of PIRD. Despite the critical importance of understanding the infectious aspects of these disorders, there remains a scarcity of comprehensive reports on this subject.

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“…До конца 2023 г. в литературе описано ещё несколько случаев дефицита CD25, наиболее частыми симптомами у пациентов были тяжёлая диарея, рецидивирующие вирусные, бактериальные, грибковые инфекции, аутоиммунные заболевания. Наиболее распространённой терапевтической стратегией у пациентов с дефицитом CD25 до ТГСК были антибактериальная, противогрибковая, противовирусная и иммуносупрессивная терапия (сиролимус, глюкокортикостероиды) [2,5,8,9]. У представленного нами пациента дефицит CD25 манифестировал упорной диареей в неонатальном периоде, в первые месяцы жизни принявшей упорный, хронический, тяжёлый характер, требующий парентерального питания, с развитием синдрома мальабсорбции, следствием которого стали гипотрофия, клинические и рентгенологические проявления рахитоподобного заболевания, вероятно, в результате нарушения всасывания кальция в желудочно-кишечном тракте.…”

Section: обсуждение результатовunclassified

A case of primary immunodeficiency with immune dysregulation: features of clinical manifestation and diagnostic difficulties

Serebryakova,

Shilova,

Kozhevnikov

et al. 2024

A&Ch

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The article describes a case of a rare primary immunodeficiency with immune dysregulation — CD25 deficiency with manifestation in the neonatal period in the form of severe chronic diarrhea, susceptibility to viral, bacterial, and fungal infections, autoimmune manifestations, malabsorption syndrome, hypotrophy, skin lesions, confirmed by a homozygous mutation in the IL2-RA gene detected by DNA analysis. The article discusses the role of IL2-RA in the maturation and differentiation of T-lymphocytes, modern approaches to the classification of primary immunodeficiencies with immune dysregulation, principles of diagnosis and treatment of CD25 deficiency, as well as analyzes and compares other cases of CD25 deficiency described in the literature.

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Whole exome sequencing identified a novel splice donor site variant in interleukin 2 receptor alpha chain

Cited by 4 publications

References 19 publications

Youngest Living Donor Liver Transplant for End‐Stage Liver Disease in a 6‐Month‐Old With a Novel Aggressive Mutation in KIF12 Gene

Youngest Living Donor Liver Transplant for End‐Stage Liver Disease in a 6‐Month‐Old With a Novel Aggressive Mutation in KIF12 Gene

Infections in Disorders of Immune Regulation

A case of primary immunodeficiency with immune dysregulation: features of clinical manifestation and diagnostic difficulties

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