Matches in SemOpenAlex for { <https://semopenalex.org/work/W4365145755> ?p ?o ?g. }
- W4365145755 abstract "Abstract Inborn errors of immunity (IEI) comprise a group of about 490 genetic disorders that lead to aberrant functioning or the development of distinct immune system components. So far, a broad spectrum of IEI‐related manifestations has been noted in the literature. Due to overlapping signs and symptoms of IEI, physicians face challenges in appropriately diagnosing and managing affected individuals. The last decade has witnesses improving in the molecular diagnosis of IEI patients. As a result, it can be the mainstay of diagnostic algorithms, prognosis, and possibly therapeutic interventions in patients with IEI. Furthermore, reviewing IEI clinical complications demonstrates that the manifestations and severity of the symptoms depend on the involved gene that causes the disease and its penetrance. Although several diagnostic criteria have been used for IEI, not every patient can be explored in the same way. As a result of the failure to consider IEI diagnosis and the variety of diagnostic capabilities and laboratory facilities in different regions, undiagnosed patients are increasing. On the other hand, early diagnosis is an almost essential element in improving the quality of life in IEI patients. Since there is no appropriate guideline for IEI diagnosis in different organs, focusing on the clues in the patient's chief complaint and physical exams can help physicians narrow their differential diagnosis. This article aims to provide a practical guide for IEI diagnosis based on the involved organ. We hope to assist clinicians in keeping IEI diagnosis in mind and minimizing possible related complications due to delayed diagnosis." @default.
- W4365145755 created "2023-04-13" @default.
- W4365145755 creator A5022667252 @default.
- W4365145755 creator A5023368518 @default.
- W4365145755 creator A5043880029 @default.
- W4365145755 creator A5049809725 @default.
- W4365145755 creator A5051258190 @default.
- W4365145755 creator A5059778805 @default.
- W4365145755 date "2023-04-01" @default.
- W4365145755 modified "2023-10-18" @default.
- W4365145755 title "Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians" @default.
- W4365145755 cites W1555998008 @default.
- W4365145755 cites W1642772401 @default.
- W4365145755 cites W1678127861 @default.
- W4365145755 cites W1770269053 @default.
- W4365145755 cites W1889295436 @default.
- W4365145755 cites W1907132844 @default.
- W4365145755 cites W1940965119 @default.
- W4365145755 cites W1966490967 @default.
- W4365145755 cites W1972115971 @default.
- W4365145755 cites W1988873661 @default.
- W4365145755 cites W1989068054 @default.
- W4365145755 cites W1995197668 @default.
- W4365145755 cites W2006178361 @default.
- W4365145755 cites W2012190029 @default.
- W4365145755 cites W2018821274 @default.
- W4365145755 cites W2021806738 @default.
- W4365145755 cites W2027198020 @default.
- W4365145755 cites W2042997070 @default.
- W4365145755 cites W2046382853 @default.
- W4365145755 cites W2056783123 @default.
- W4365145755 cites W2073476128 @default.
- W4365145755 cites W2083171799 @default.
- W4365145755 cites W2083192361 @default.
- W4365145755 cites W2086527370 @default.
- W4365145755 cites W2095110373 @default.
- W4365145755 cites W2099136629 @default.
- W4365145755 cites W2102594251 @default.
- W4365145755 cites W2104707143 @default.
- W4365145755 cites W2105379481 @default.
- W4365145755 cites W2122058052 @default.
- W4365145755 cites W2125597702 @default.
- W4365145755 cites W2141794632 @default.
- W4365145755 cites W2165083041 @default.
- W4365145755 cites W2180355990 @default.
- W4365145755 cites W2267007238 @default.
- W4365145755 cites W2315353015 @default.
- W4365145755 cites W2332983066 @default.
- W4365145755 cites W2482550055 @default.
- W4365145755 cites W2508023113 @default.
- W4365145755 cites W2550167636 @default.
- W4365145755 cites W2557654974 @default.
- W4365145755 cites W2579059434 @default.
- W4365145755 cites W2609502046 @default.
- W4365145755 cites W2625992417 @default.
- W4365145755 cites W2742685198 @default.
- W4365145755 cites W2753909456 @default.
- W4365145755 cites W2754821832 @default.
- W4365145755 cites W2756116231 @default.
- W4365145755 cites W2756359524 @default.
- W4365145755 cites W2765839813 @default.
- W4365145755 cites W2778123148 @default.
- W4365145755 cites W2780033334 @default.
- W4365145755 cites W2785911985 @default.
- W4365145755 cites W2786086207 @default.
- W4365145755 cites W2789128526 @default.
- W4365145755 cites W2791117611 @default.
- W4365145755 cites W2791268187 @default.
- W4365145755 cites W2792408283 @default.
- W4365145755 cites W2886092601 @default.
- W4365145755 cites W2887787769 @default.
- W4365145755 cites W2888875236 @default.
- W4365145755 cites W2889641228 @default.
- W4365145755 cites W2898617924 @default.
- W4365145755 cites W2900716090 @default.
- W4365145755 cites W2903689398 @default.
- W4365145755 cites W2911346585 @default.
- W4365145755 cites W2936665922 @default.
- W4365145755 cites W2938764271 @default.
- W4365145755 cites W2947987478 @default.
- W4365145755 cites W2959555582 @default.
- W4365145755 cites W2967095308 @default.
- W4365145755 cites W2968498407 @default.
- W4365145755 cites W2969813075 @default.
- W4365145755 cites W2973382248 @default.
- W4365145755 cites W2990903343 @default.
- W4365145755 cites W2998892469 @default.
- W4365145755 cites W3006660386 @default.
- W4365145755 cites W3012540717 @default.
- W4365145755 cites W3012545433 @default.
- W4365145755 cites W3027350605 @default.
- W4365145755 cites W3033987423 @default.
- W4365145755 cites W3033991455 @default.
- W4365145755 cites W3041237822 @default.
- W4365145755 cites W3093502285 @default.
- W4365145755 cites W3100356782 @default.
- W4365145755 cites W3127210418 @default.
- W4365145755 cites W3129110395 @default.
- W4365145755 cites W3139114302 @default.
- W4365145755 cites W3143676239 @default.