Common variable immunodeficiency: a new look at an old disease

Park, Miguel A.; Li, James T.; Hagan, John B.; Maddox, Daniel E.; Abraham, Roshini S.

doi:10.1016/s0140-6736(08)61199-x

Cited by 294 publications

(254 citation statements)

References 121 publications

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“…Erkek ve kadınlar-da eşit oranda görülür. [1][2][3] En sık tanı konma yaşı ço-cuklarda 6-10, erişkinlerde 20-30 olarak bildirilmiştir. [10,11,16] Birinci olgumuz literatürle uyumlu olarak 27 yaşında kadın hasta, ikinci olgumuz ise 57 yaşında erkek hasta idi.…”

Section: Discussionunclassified

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Two cases report; common variable immunodeficiency syndrome presented with empyema

Salepçi¹,

Tahtasakal²,

Kıral³

et al. 2013

J Kartal TR

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ÖzetYaygın değişken immün yetmezlik (Common variable immü-nodeficiency -CVID), her yaşta ortaya çıkabilen, tekrarlayıcı bakteriyel enfeksiyonlar ve hipogammaglobulinemi ile karakterize primer immün yetmezlik sendromudur. İlk olgu 27 yaşında kadın hasta: Psöriasis mevcut olan hasta bir haftadır devam eden ateş, diare öksürük, balgam, nefes darlığı şikayet-leri ile başvurdu. Muayenesinde hipotansiyon ve splenomegali bulundu. Akciğer grafisinde ve yüksek çözünürlüklü BT'de iki taraflı alveoler konsolidasyon ve plevral efüzyon tespit edildi. Torasentez ile ampiyem tespit edilerek toraks tüp drenajı uygulandı. İmmünglobulin (IgG, IgM, IgA) düzeyleri ileri derecede düşük bulunan hastaya CVID tanısı konarak intravenöz Ig (IVIG) tedavisi uygulandı. İkinci olgu 57 yaşında erkek hasta: İlk kez 2010 yılında sol plevral efüzyon nedeniyle yapılan plevral biyopsi sonucu nonnekrotizan granülomatöz hastalık gelmesi sonucu 9 ay antitüberkülo tedavi aldı. Daha sonra tekrarlayan hemoptiziler nedeniyle iki kez kliniğimizde yatan hastaya malignite düşünülerek çekilen PET-BT'de sol akciğer alt lobda enflamasyon ile uyumlu tutulum tespit edildi. Yapılan bronkoskopik ve laboratuvar incelemelerinde malignite, vaskülit ve tüberküloz tespit edilmedi. 2012 yedinci ayda sağda plevral efüzyon nedeniyle tekrar yatırılan hastanın torasentezle alınan plevral mayi ampiyem ile uyumlu geldi, batın ultrasonunda hepatosplenomegali tespit edildi. IgA, IgG ve IgM belirgin azalmış bulundu. Hastaya CVID tanısı konarak torakoskopi sonrası IVIG uygulandı. Antibiyotik tedavisine cevap vermeyen, psöriazis, splenomegali gibi otoimmün hastalıkların ve sarkoid benzeri granülomatöz hastalıkların eşlik ettiği tekrarlayıcı, komplike toplum kökenli pnömonilerde CVID akla getirilmelidir.

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Section: Discussionunclassified

“…Irk ayrımı gözetmez, erkek ve kadınlarda eşit oranda görülür. [1][2][3][4] Bazı olgularda otozomal dominant geçiş bildirilmekle beraber genellikle otozomal resesif geçiş mevcuttur. Otozomal resesif taşıyıcılık ta bildirilmiştir.…”

Section: Introductionunclassified

Two cases report; common variable immunodeficiency syndrome presented with empyema

Salepçi¹,

Tahtasakal²,

Kıral³

et al. 2013

J Kartal TR

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“…Then, the genetic analysis was extended to the ICOS, TACI and BAFFR genes, involved in CVID; 29,32 FAS, FASL and CASP10 involved in ALPS; 24 PRF1, UNC13D and STX11 (sintaxin 11) involved in FLH; 33,34 and SAP and XIAP involved in XLP. 35 Results showed that Pt1 carried two mutations in TACI, a 431C4G and a 577T4C substitution that result in the S144X and C193R changes, respectively (Figures 2a and b).…”

Section: Patient Analysesmentioning

confidence: 99%

“…240500), a primary immunodeficiency characterized by defective antibody production and hypogammaglobulinemia. 28,29 CVID usually manifests during the second and third decade by recurrent bacterial infections of the upper and lower respiratory tract; up to 20% of CVID patients also display signs of autoimmunity and lymphoproliferation (splenomegaly). Moreover, both ALPS and CVID patients may display a skewed distribution of B-cell subsets.…”

Section: Introductionmentioning

confidence: 99%

“…30,31 CVID may be caused by variations in several genes involved in B-cell activation and differentiation, including the CD19/CD21/ CD81, transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI or TNFRSF13B), B-cell-activating factor (BAFF) receptor (BAFFR) and inducible T-cell costimulator (ICOS) genes. 29,32 CD19, CD21 and CD81 are components of the coreceptor of the B-cell receptor and are involved in B-cell activation. TACI and BAFFR (or TNFRSF13C) are expressed by B cells and bind the BAFF cytokine, thereby having a role in B-cell activation and survival.…”

Section: Introductionmentioning

confidence: 99%

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A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation

et al. 2015

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Lymphocyte apoptosis is mainly induced by either death receptor-dependent activation of caspase-8 or mitochondria-dependent activation of caspase-9. Mutations in caspase-8 lead to autoimmunity/lymphoproliferation and immunodeficiency. This work describes a heterozygous H237P mutation in caspase-9 that can lead to similar disorders. H237P mutation was detected in two patients: Pt1 with autoimmunity/lymphoproliferation, severe hypogammaglobulinemia and Pt2 with mild hypogammaglobulinemia and Burkitt lymphoma. Their lymphocytes displayed defective caspase-9 activity and decreased apoptotic and activation responses. Transfection experiments showed that mutant caspase-9 display defective enzyme and proapoptotic activities and a dominant-negative effect on wild-type caspase-9. Ex vivo analysis of the patients' lymphocytes and in vitro transfection experiments showed that the expression of mutant caspase-9 correlated with a downregulation of B-cellactivating factor (BAFF) receptor (BAFFR) in B cells and induci Q2 ble T-cell costimulator (ICOS) in T cells. Both patients carried a second inherited heterozygous mutation missing in the relatives carrying H237P: Pt1 in the transmembrane activator and CAML interactor (TACI) gene (S144X) and Pt2 in the perforin g Q3 ene (N252S). Both mutations have been previously associated with immunodeficiencies in homozygosis or compound heterozygosis. Taken together, these data suggest that caspase-9 mutations may predispose to immunodeficiency by cooperating with other genetic factors, possibly by downregulating the expression of BAFFR and ICOS.

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Skin Cancer in the Immunocompromised Patient

Harwood

McGregor

Proby³

2016

Rook's Textbook of Dermatology, Ninth Edition

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The immune system plays a critical role in skin cancer development, progression and destruction. Skin cancers in individuals with compromised immune systems represent a growing challenge in terms of their frequency and diversity as well as their atypical and often aggressive nature. Mortality and morbidity associated with skin tumours in this clinical context are often considerable, their pathogenesis is multifactorial and an evidence base to guide management is lacking in many key areas.

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Common variable immunodeficiency: a new look at an old disease

Cited by 294 publications

References 121 publications

Two cases report; common variable immunodeficiency syndrome presented with empyema

Two cases report; common variable immunodeficiency syndrome presented with empyema

A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation

Skin Cancer in the Immunocompromised Patient

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