Defining combined immunodeficiency

Roifman, Chaim M.; Somech, Raz; Kavadas, Fotini D.; Pires, Linda; Nahum, Amit; Dalal, Ilan; Grunebaum, Eyal

doi:10.1016/j.jaci.2012.04.029

Cited by 97 publications

(77 citation statements)

References 28 publications

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“…For CID, 34 patients had a broad SI ranging from 0-400, thus overlapping widely with control samples. Discussion: As previously described (Buckley et al 1997;Roifman et al 2012), when using PHA proliferation assay, all patients with typical SCID were found to have a profoundly low SI (range 0-5). Those with nontypical SCID (Omenn's Syndrome or presence of maternal engraftment) also had a low SI (ranged from 0-30).…”

Section: Activated Pi3k-delta Syndrome Is a Novel Immunodeficiency Casupporting

confidence: 68%

“…However, in patients with Combined Immunodeficiency (CID), the results of these tests have not been standardized and are open to a wide range of interpretations (Roifman et al 2012). The primary goal of this study was to establish reference ranges for patients with T-cell defects, especially in those with CID.…”

Section: Activated Pi3k-delta Syndrome Is a Novel Immunodeficiency Camentioning

confidence: 99%

“…Moesin is localized to plasma membrane functional protrusions, such as filopodia or the T-cell receptor synapse, that are important for cell-cell recognition as well as cell mobility (Doi et al 1999). Studies in lymphocytes suggest that Moesin helps to maintain the shape of circulating cells and contributes to cytoskeletal proliferation and relaxation (Parameswaran and Gupta 2013, Ivetic and Ridley 2004, Fehon et al 2010, Pore and Gupta 2015.…”

Section: Activated Pi3k-delta Syndrome Is a Novel Immunodeficiency Camentioning

confidence: 99%

See 2 more Smart Citations

Abstracts from the Immunodeficiency Canada 4th sCID Symposium

Lafleur¹

2016

LymphoSign Journal

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Section: Activated Pi3k-delta Syndrome Is a Novel Immunodeficiency Casupporting

confidence: 68%

Section: Activated Pi3k-delta Syndrome Is a Novel Immunodeficiency Camentioning

confidence: 99%

Section: Activated Pi3k-delta Syndrome Is a Novel Immunodeficiency Camentioning

confidence: 99%

See 1 more Smart Citation

Abstracts from the Immunodeficiency Canada 4th sCID Symposium

Lafleur¹

2016

LymphoSign Journal

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“…These include patients with certain mutations such as CD40 Ligand (CD40L), Interleukin 10 Receptor (IL10R) and Forkhead Box P3 (FOXP3) [32]. A prime example for this challenge is Major Histocompatibility Complex class II (MHC-II) deficiency, a variant of SCID in which the development and function of CD4 + T cells is impaired.…”

Section: Screening Limitationsmentioning

confidence: 99%

Newborn Screening for Severe Combined Immunodeficiency in Israel

Rechavi

Lev

Saraf-Levy

et al. 2017

IJNS

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Newborn screening (NBS) programs for severe combined immunodeficiency (SCID), the most severe type of primary immunodeficiency, are being implemented in more and more countries with every passing year. Since October 2015, SCID screening via T cell receptor excision circle (TREC) quantification in dried blood spots (DBS) has been part of the Israeli NBS program. As an NBS program in its infancy, SCID screening is still evolving, making gathering input from the various programs crucial for compiling an ideal screening algorithm. The relatively high rate of consanguineous marriages in Israel, especially among non-Jews, correlates with an increased incidence of SCID. The Israeli algorithm uses a commercial kit and consists of a two-Guthrie card confirmation system prior to referral to a national immunology center. Preliminary data from the first year and a half of SCID screening in Israel has identified a surprisingly high prevalence of DNA cross-link repair protein 1c (DCLRE1C; ARTEMIS) mutations as the cause of SCID in Israel. The clinically unbiased nature of SCID screening helps unearth mild/leaky SCID phenotypes, resulting in a better understanding of true SCID prevalence and etiology.

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“…Immunological findings described previously in APDS include B cell lymphopenia with relatively increased transitional B cell numbers and reduced immunoglobulin (Ig)G, but elevated IgM levels in serum [6,7], features that are shared partially with CVID [10]. The differential diagnosis of APDS also extends to combined immunodeficiency (CID) or 'atypical' severe combined immunodeficiency (SCID) (defined as immunodeficiency due to mutations in SCID-causing genes in patients with a presentation different from typical SCID and Omenn syndrome and T cell levels above 500 cells/ll [11,12]). CID patients present above the age of 1 year with clinical features that can include bronchiectasis, autoimmune cytopenia, recurrent and prolonged viral infection, lymphopenia, restricted antibody response and Epstein-Barr virus (EBV)-associated lymphoproliferation [13].…”

Section: Introductionmentioning

confidence: 99%

Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency

Elgizouli

Lowe

Speckmann

et al. 2015

Clinical and Experimental Immunology

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SummaryThe gene PIK3CD codes for the catalytic subunit of phosphoinositide 3-kinase d (PI3Kd), and is expressed solely in leucocytes. Activating mutations of PIK3CD have been described to cause an autosomal dominant immunodeficiency that shares clinical features with common variable immunodeficiency (CVID). We screened a cohort of 669 molecularly undefined primary immunodeficiency patients for five reported mutations (four gain-of-function mutations in PIK3CD and a loss of function mutation in PIK3R1) using pyrosequencing. PIK3CD mutations were identified in three siblings diagnosed with CVID and two sporadic cases with a combined immunodeficiency (CID). The PIK3R1 mutation was not identified in the cohort. Our patients with activated PI3Kd syndrome (APDS) showed a range of clinical and immunological findings, even within a single family, but shared a reduction in naive T cells. PIK3CD gain of function mutations are more likely to occur in patients with defective B and T cell responses and should be screened for in CVID and CID, but are less likely in patients with a pure B cell/hypogammaglobulinaemia phenotype.

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Defining combined immunodeficiency

Cited by 97 publications

References 28 publications

Abstracts from the Immunodeficiency Canada 4th sCID Symposium

Abstracts from the Immunodeficiency Canada 4th sCID Symposium

Newborn Screening for Severe Combined Immunodeficiency in Israel

Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency

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