Granulomatous inflammation and hypogammaglobulinemia: Clinical conundrum of familial hemophagocytic lymphohistiocytosis type 5

被引：0

作者：

Pilania, Rakesh Kumar ^{[1
]}

Kumrah, Rajni ^{[1
]}

Anjani, Gummadi ^{[1
]}

Patra, Pratap Kumar ^{[1
]}

Vignesh, Pandiarajan ^{[1
]}

Rawat, Amit ^{[1
]}

Gupta, Anju ^{[1
]}

Sachdeva, Man Updesh ^{[2
]}

Ahluwalia, Jasmina ^{[2
]}

Bal, Amanjit ^{[3
]}

Nada, Ritambhra ^{[3
]}

Suri, Deepti ^{[1
]}

机构：

[1] Post Grad Inst Med Educ & Res PGIMER, Adv Pediat Ctr, Dept Pediat, Allergy Immunol Unit, Chandigarh 160012, India

[2] Post Grad Inst Med Educ & Res PGIMER, Dept Hematol, Chandigarh 160012, India

[3] Post Grad Inst Med Educ & Res PGIMER, Dept Histopathol, Chandigarh 160012, India

来源：

IMMUNOBIOLOGY | 2023年 / 228卷 / 02期

关键词：

Primary Immunodeficiency disease; STXBP2; Hemophagocytic lymphohistiocytosis; MUTATIONS; STXBP2; PRESENTATIONS;

D O I：

10.1016/j.imbio.2022.152318

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Familial hemophagocytic lymphohistiocytosis (HLH) is an inherited disorder characterized by systemic hyper-inflammation caused by an uncontrolled immune response mediated by T-lymphocytes, natural killer (NK) cells, and macrophages. Most children with familial HLH present within first 2 years of life and can have fatal disease unless hematopoietic stem cell transplant (HSCT) is performed (1). However, few patients may have late pre-sentation and prolonged survival. With increasing awareness and facilities to identify HLH these disorders are being identified beyond infancy (2-4). Clinical and laboratory features are often similar to other primary im -mune deficiency diseases and pose diagnostic challenges (4-6). We report two patients who presented beyond the first decade of life with HLH, granulomatous inflammation, hypogammaglobulinemia, reduced B cells and were diagnosed to have familial HLH type 5 due to defect in STXBP2 gene.

引用

页数：6

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