De novo mutation in the BTK gene of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma

Lin, Mao-Tsair; Chien, Yin‐Hsiu; Shyur, Shyh-Dar; Huang, Li-Hsin; Chiang, Yi-Chi; Wen, Da-Chin; Liang, Pei-Hsuan; Yang, Hwai-Chih

doi:10.1016/s1081-1206(10)61075-7

Cited by 17 publications

(8 citation statements)

References 18 publications

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“…A combined TREC/KREC approach has been able to identify patients with severe B cell disorders such as X-linked agammaglobulinemia [30] and delayed-onset ADA deficiency [36]. To identify other forms of primary immunodeficiency, such as X-linked agammaglobulinemia (XLA) [37][38][39], we have tested the feasibility of performing a KREC assay as previous described [40]. The KREC assay could accurately indicate SCID with a RAG1 mutation and other situations such as newborns with pancytopenia or B lymphopenia, but the correlation in newborns with a IL2RG mutation was low.…”

Section: Kappa-deleting Element Recombination Circle (Krec) Screeningmentioning

confidence: 99%

Newborn Screening for Severe Combined Immunodeficiency in Taiwan

Chien

Lee

et al. 2017

IJNS

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A study of newborn screening for severe combined immunodeficiency (SCID) by detecting the T-cell receptor excision circle (TRECs) copy number in dried blood spots (DBSs) collected from newborns 3 days of age began in 2010 in Taiwan, and SCID screening was subsequently implemented country-wide in 2012. A total of 920,398 newborns were screened during a period of 78 months. Of these, 175 newborns (0.02%) were requested to undergo an immune function survey, and 136 cases (1 in 6768 newborns) were ultimately diagnosed as having T cell lymphopenia. The screening detected seven cases of typical SCID, with an incidence of 1 in 131,485 newborns (95% confidence interval, 1/63,693~1/271,434). Hematopoietic stem cell transplantation was performed in six patients before overt infection occurred, and the survival rate was 100%. The screening also detected eight cases of SCID variants and 20 cases of 22q11.2 deletion syndrome. Other etiologies of T lymphopenia were identified, and those newborns were evaluated and managed according to their immunological status. Owing to the introduction of newborn screening by measuring the TREC copy number, early administration of treatments became possible for newborns with conditions that put them at risk of primary or secondary immunodeficiency.

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Section: Kappa-deleting Element Recombination Circle (Krec) Screeningmentioning

confidence: 99%

Newborn Screening for Severe Combined Immunodeficiency in Taiwan

Chien

Lee

et al. 2017

IJNS

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“…As an example, X-linked agammaglobulinemia, a disorder leading to profound loss of B cells, may present atypically or later in life [33,73,95,96,97,98,99,100,101,102,103,104,105,106,107] while CD40 ligand deficiency may present with deceptively unimpressive IgM levels [29]. Similarly, X-linked lymphoproliferative disorders may mimic CVID in men [108,109,110,111].…”

Section: Monogenic Disorders Mimicking Cvidmentioning

confidence: 99%

Common Variable Immunodeficiency: Etiological and Treatment Issues

Deane

Selmi

Naguwa

et al. 2009

Int Arch Allergy Immunol

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One of the great advances in clinical medicine was the recognition of the pleomorphism of the immune response and the multiple afferent and efferent limbs of antigen processing and responsiveness. A significant contribution to this understanding was derived from studies of human immunodeficiency states, including both inherited and acquired syndromes. Amongst these syndromes, one of the most common, and least understood, is common variable immune deficiency (CVID). CVID is a syndrome that leads to a reduction in serum immunoglobulins and complications including recurrent infections. Management includes immunoglobulin replacement therapy; however, patients with CVID are at risk for complications of exogenous immunoglobulin administration as well as CVID-associated diseases such as autoimmune processes and malignancies. To assess the current state of knowledge in the field, we performed a literature review of a total of 753 publications covering the period of 1968 until 2008. From this list, 189 publications were selected for discussion. In this review, we demonstrate that while the molecular basis of CVID in many cases remains incompletely understood, significant strides have been made and it is now clear that there is involvement of several pathways of immune activation, with contributions from both T and B cells. Furthermore, despite the current gaps in our knowledge of the molecular pathogenesis of the syndrome, there have been dramatic advances in management that have led to improved survival and significantly reduced morbidity in affected patients.

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“…The diagnosis is delayed due to less severe or even atypical courses of infection. Some authors report the diagnosis of XLA in adult patients [7,8].…”

Section: Introductionmentioning

confidence: 99%

Clinical and immunological analysis of patients with X-linked agammaglobulinemia – single center experience

Pac¹,

Mikołuć²,

Pietrucha³

et al. 2013

cejoi

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The retrospective analysis of a immunological and clinical survey in 33 boys g/l). The total number of B cells was decreased and varied between 0-391 cells/µl, with the mean value of 26 cells/µl and 0.65%. The replacement therapy with intravenous immunoglobulin (IVIG) preparation was also delayed, and introduced at the mean age of 3 years 5 months. In some patients it was followed with subcutaneous immunoglobulin (SCIG

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De novo mutation in the BTK gene of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma

Cited by 17 publications

References 18 publications

Newborn Screening for Severe Combined Immunodeficiency in Taiwan

Newborn Screening for Severe Combined Immunodeficiency in Taiwan

Common Variable Immunodeficiency: Etiological and Treatment Issues

Clinical and immunological analysis of patients with X-linked agammaglobulinemia – single center experience

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