Hemophagocytic lymphohistiocytosis in a patient with CD3δ deficiency

Alsalamah, Mohammad; Sarpal, Amrita; Siu, Victoria Mok; Gibson, Paul; Rupar, CA; Barton, Michelle; Salvadori, M; Goobie, Sharan

doi:10.14785/lpsn-2015-0006

Cited by 3 publications

(1 citation statement)

References 21 publications

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“…With the available literature, the most common types of SCID to develop HLH or HLH-like manifestations are X-linked SCID followed by RAG defects. However, features of HLH have also been described with JAK3 , CD3D , ADA , and ORAI1 defects also ( 13 ) ( 15 ) ( 16 ) ( 18 ), ( 20 ). In India, autosomal forms of SCID are more common than X-linked SCID.…”

Section: Discussionmentioning

confidence: 99%

Features of Hemophagocytic Lymphohistiocytosis in Infants With Severe Combined Immunodeficiency: Our Experience From Chandigarh, North India

Vignesh

Anjani²,

Kumrah³

et al. 2022

Front. Immunol.

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BackgroundHemophagocytic lymphohistiocytosis (HLH) is characterized by uncontrolled and excessive inflammation leading to high mortality. Aetiology of HLH can be primarily due to genetic causes or secondarily due to infections or rheumatological illness. However, rarely T-cell deficiencies like severe combined immunodeficiency (SCID) can develop HLH.ObjectiveTo describe clinical and laboratory features of SCID cases who developed HLH.MethodsWe collected clinical, laboratory, and molecular details of patients with SCID who developed HLH at our center at Chandigarh, North India.ResultsOf the 94 cases with SCID, 6 were noted to have developed HLH-like manifestations. Male-female ratio was 5:1. Median (inter-quartile range) age of onset of clinical symptoms was 4.25 months (2-5 months). Median (inter-quartile range) delay in diagnosis was 1 month (1-3.5 months). Family history of deaths was seen in 4 cases. Molecular defects in IL2RG were seen in 5 out of 6 cases. Documented infections include disseminated bacillus calmette-guerin (BCG) infection (n=2), blood stream infections (n=3) with Staphylococcal aureus (n=1), Klebsiella pneumonia (n=1), and Pseudomonas aeruginosa (n=1), pneumonia (influenza H1N1 strain, and K. pneumoniae (n=1).ConclusionChildren with SCID can present with HLH-like manifestations secondary to fulminant infections. A high index of suspicion of SCID is needed in infants who present with HLH who have an associated infection or a suggestive family history. Occurrence of HLH-like manifestations in SCID suggests that T-lymphocytes may not have a significant role in immunopathogenesis of HLH.

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Section: Discussionmentioning

confidence: 99%

Features of Hemophagocytic Lymphohistiocytosis in Infants With Severe Combined Immunodeficiency: Our Experience From Chandigarh, North India

Vignesh

Anjani²,

Kumrah³

et al. 2022

Front. Immunol.

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Primary Immunodeficiency and Thrombocytopenia

Mohtashami

Razavi

Abolhassani

et al. 2021

International Reviews of Immunology

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HLH as an additional warning sign of inborn errors of immunity beyond familial-HLH in children: a systematic review

Ricci,

Sarli,

Lodi

et al. 2024

Front. Immunol.

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BackgroundHemophagocytic Lymphohistiocytosis (HLH) is a rare and life-threatening condition characterized by a severe impairment of the immune homeostasis. While Familial-HLH (FHL) is a known cause, the involvement of other Inborn Errors of Immunity (IEI) in pediatric-HLH remains understudied.ObjectiveThis systematic review aimed to assess the clinical features, triggers, laboratory data, treatment, and outcomes of pediatric HLH patients with IEI other than FHL (IEInotFHL), emphasizing the importance of accurate identification and management.MethodsA systematic search for studies meeting inclusion criteria was conducted in PubMed, EMBASE, MEDLINE, and Cochrane Central. Quality assessment was performed through JBI criteria.ResultsA comprehensive search yielded 108 records meeting inclusion criteria, involving 178 patients. We identified 46 different IEI according to IUIS 2022 Classification. Combined immunodeficiencies, immune dysregulation disorders, and phagocyte defects were the IEI most frequently associated with HLH. In 75% of cases, HLH preceded the IEI diagnosis, often with an unrecognized history of severe infections. Triggers reflected the specific infection susceptibilities within IEI groups. Liver and central nervous system involvement were less common than in FHL cases. Treatment approaches and outcomes varied, with limited long-term follow-up data, limiting the assessment of therapeutic efficacy across IEI groups.ConclusionA comprehensive evaluation encompassing immunological, infectious, and genetic aspects is essential in pediatric-HLH. Relying solely on FHL or EBV susceptibility disorders tests is insufficient, as diverse other IEI can contribute to HLH. Early recognition of HLH as a potential warning sign can guide timely diagnostic investigations and facilitate tailored therapeutic interventions for improved outcomes.Systematic review registrationhttps://www.crd.york.ac.uk/prospero/display_record.php?RecordID=371425, PROSPERO, CRD42022371425.

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Hemophagocytic lymphohistiocytosis in a patient with CD3δ deficiency

Cited by 3 publications

References 21 publications

Features of Hemophagocytic Lymphohistiocytosis in Infants With Severe Combined Immunodeficiency: Our Experience From Chandigarh, North India

Features of Hemophagocytic Lymphohistiocytosis in Infants With Severe Combined Immunodeficiency: Our Experience From Chandigarh, North India

Primary Immunodeficiency and Thrombocytopenia

HLH as an additional warning sign of inborn errors of immunity beyond familial-HLH in children: a systematic review

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