Expanding the clinical phenotype of <scp>FADD</scp> deficiency with a novel mutation and its role in Fas‐mediated apoptotic pathway

Setia, Priyanka; Bargir, Umair Ahmed; Shanmukhaiah, Chandrakala; Jodhawat, Neha; Gaikwad, Pallavi; Vedpathak, Disha; Dutta, Shubhankar; Kulkarni, Rucha; Kambli, Priyanka; Dalvi, Aparna; Shinde, Shweta; Gupta, Maya; Nambiar, Nayana; Sawant, Sneha; Shelar, Shraddha; Dhawale, Amruta; Mohanty, Madhu S.; Yadav, Reetika Malik; Bose, Kakoli; Madkaikar, Manisha

doi:10.1111/bjh.18871

Cited by 1 publication

(2 citation statements)

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“…Fas-associated death domain (FADD) deficiency is part of the programmed cell death complex; however, these patients have an increased predisposition to viral encephalitis rather than lymphoproliferation and autoimmunity [ 10 ]. The viral infections reported include varicella HHV6, EBV, CMV, HSV, astrovirus, and parainfluenza and can also occur after a live viral vaccine (such as MMR) [ 10 , 11 , 12 , 13 ]. There are reports of bacterial infections due to pneumococcal sepsis caused by functional hyposplenism.…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Introductionmentioning

confidence: 99%

“…The patients who had lymphoproliferation were noticed to have increased numbers of DNT cells and various autoantibodies. These patients had significant mortality before 5 years of life [ 10 , 11 , 12 ].…”

Section: Introductionmentioning

confidence: 99%