家族史在原发性免疫缺陷病诊断中的价值。
The value of family history in diagnosing primary immunodeficiency disorders.
作者信息
Hendaus Mohamed A, Alhammadi Ahmad, Adeli Mehdi M, Al-Yafei Fawzia
机构信息
Department of Pediatrics, Section of General Pediatrics, Hamad Medical Corporation, Doha, Qatar.
Department of Pediatrics, Section of General Pediatrics, Hamad Medical Corporation, Doha, Qatar ; Weill Cornell Medical College, Doha, Qatar.
出版信息
Case Rep Pediatr. 2014;2014:516256. doi: 10.1155/2014/516256. Epub 2014 Aug 5.
Abstract
Eliciting proper family medical history is critical in decreasing morbidity and mortality in patients with primary immunodeficiency disorders (PIDs). Communities with a common practice of consanguinity have a high rate of PIDs. We are presenting 2 cases where digging deeply into the family medical history resulted in the diagnosis of Omenn syndrome, a possibly fatal entity if not managed in a reasonable period.
摘要
获取准确的家族病史对于降低原发性免疫缺陷疾病（PID）患者的发病率和死亡率至关重要。有近亲通婚习俗的社区中PID的发病率很高。我们报告2例通过深入了解家族病史确诊为奥门综合征的病例，如果未能在合理时间内进行治疗，该疾病可能会致命。
相似文献
1
The value of family history in diagnosing primary immunodeficiency disorders.
Case Rep Pediatr. 2014;2014:516256. doi: 10.1155/2014/516256. Epub 2014 Aug 5.
2
Cutaneous Manifestations of Primary Immunodeficiency Diseases in Tunisian Children.
Mediterr J Hematol Infect Dis. 2018 Nov 1;10(1):e2018065. doi: 10.4084/MJHID.2018.065. eCollection 2018.
3
THE IMPORTANCE OF EDUCATING PEDIATRICIANS ABOUT PRIMARY IMMUNODEFICIENCY DISORDERS: A TERTIARY HOSPITAL EXPERIENCE.
Georgian Med News. 2015 Sep(246):66-72.
4
Primary Immunodeficiency Disorders Among North Indian Children.
Indian J Pediatr. 2019 Oct;86(10):885-891. doi: 10.1007/s12098-019-02971-y. Epub 2019 Jun 8.
5
Skin disorders are prominent features in primary immunodeficiency diseases: A systematic overview of current data.
Allergy. 2019 Mar;74(3):464-482. doi: 10.1111/all.13681. Epub 2018 Dec 27.
6
Noninfectious cutaneous granulomas in primary immunodeficiency disorders: report from a national registry.
Am J Dermatopathol. 2014 Oct;36(10):832-7. doi: 10.1097/DAD.0000000000000112.
7
History of primary immunodeficiency diseases in iran.
Iran J Pediatr. 2010 Mar;20(1):16-34.
8
Clinical and Laboratory Characteristics of Primary Immunodeficiency Patients from a Tertiary Care Center in Pakistan.
J Pak Med Assoc. 2020 Dec;70(12(B)):2403-2407. doi: 10.47391/JPMA.512.
9
Diagnostic Approach to the Patients with Suspected Primary Immunodeficiency.
Endocr Metab Immune Disord Drug Targets. 2020;20(2):157-171. doi: 10.2174/1871530319666190828125316.
10
Imaging Features of Primary Immunodeficiency Disorders.
Radiol Cardiothorac Imaging. 2021 Mar 25;3(2):e200418. doi: 10.1148/ryct.2021200418. eCollection 2021 Apr.
引用本文的文献
1
Hyperactivation of the PI3K pathway in inborn errors of immunity: current understanding and therapeutic perspectives.
Immunother Adv. 2024 Nov 7;4(1):ltae009. doi: 10.1093/immadv/ltae009. eCollection 2024.
2
Development of an Expert-Based Scoring System for Early Identification of Patients with Inborn Errors of Immunity in Primary Care Settings - the PIDCAP Project.
J Clin Immunol. 2024 Oct 21;45(1):26. doi: 10.1007/s10875-024-01825-3.
本文引用的文献
1
Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century.
Ann N Y Acad Sci. 2011 Nov;1238:7-14. doi: 10.1111/j.1749-6632.2011.06206.x.
2
Omenn's Syndrome: A rare primary immunodeficiency disorder.
Sultan Qaboos Univ Med J. 2007 Aug;7(2):133-8.
3
Consanguinity rate and delay in diagnosis in Turkish patients with combined immunodeficiencies: a single-center study.
J Clin Immunol. 2011 Feb;31(1):106-11. doi: 10.1007/s10875-010-9472-8. Epub 2010 Oct 6.
4
Primary immunodeficiency disorders: survey of pediatricians in Kuwait.
J Clin Immunol. 2008 Jul;28(4):379-83. doi: 10.1007/s10875-008-9191-6. Epub 2008 Mar 19.
5
Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry.
Am J Reprod Immunol. 2006 Aug;56(2):145-51. doi: 10.1111/j.1600-0897.2006.00409.x.
6
Reconsidering the family history in primary care.
J Gen Intern Med. 2004 Mar;19(3):273-80. doi: 10.1111/j.1525-1497.2004.30401.x.
7
Lay constructions of a family history of heart disease: potential for misunderstandings in the clinical encounter?
Lancet. 2001 Apr 14;357(9263):1168-71. doi: 10.1016/S0140-6736(00)04334-8.
8
Knowledge, attitudes, and behaviors of Alabama's primary care physicians regarding cancer genetics.
Acad Med. 2000 Aug;75(8):850-2. doi: 10.1097/00001888-200008000-00021.
9
GPs' views on their role in cancer genetics services and current practice.
Fam Pract. 1999 Oct;16(5):468-74. doi: 10.1093/fampra/16.5.468.
10
The 'new genetics' and primary care: GPs' views on their role and their educational needs.
Fam Pract. 1999 Aug;16(4):420-5. doi: 10.1093/fampra/16.4.420.
Zotero 插件