abstract：BACKGROUND:An outbreak of multisystem inflammatory syndrome in children, including Kawasaki disease (KD), emerged during COVID-19 pandemic. We explored whether Kawasaki-like disease (KD), when associated with confirmed SARS-CoV-2 infection, has specific characteristics. METHODS:We included children and adolescents wit...

journal_title：Journal of clinical immunology

authors： Toubiana J,Cohen JF,Brice J,Poirault C,Bajolle F,Curtis W,Moulin F,Matczak S,Leruez M,Casanova JL,Chalumeau M,Taylor M,Allali S

更新日期：2021-01-04 00:00:00

abstract：:Biallelic mutations in SLC29A3 cause histiocytosis-lymphadenopathy plus syndrome, also known as H syndrome (HS). HS is a complex disorder, with ~ 25% of patients developing autoinflammatory complications consisting of unexplained fevers, persistently elevated inflammatory markers, and unusual lymphadenopathies, with i...

journal_title：Journal of clinical immunology

authors： Lara-Reyna S,Poulter JA,Vasconcelos EJR,Kacar M,McDermott MF,Tooze R,Doffinger R,Savic S

更新日期：2020-12-07 00:00:00

abstract：:The noncanonical NF-κB pathway is implicated in diverse biological and immunological processes. Monoallelic C-terminus loss-of-function and gain-of-function mutations of NFKB2 have been recently identified as a cause of immunodeficiency manifesting with common variable immunodeficiency (CVID) or combined immunodeficie...

journal_title：Journal of clinical immunology

authors： Kuehn HS,Bernasconi A,Niemela JE,Almejun MB,Gallego WAF,Goel S,Stoddard JL,Sánchez RGP,Franco CAA,Oleastro M,Grunebaum E,Ballas Z,Cunningham-Rundles C,Fleisher TA,Franco JL,Danielian S,Rosenzweig SD

更新日期：2020-11-01 00:00:00

abstract：:Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) is a rare disorder that is associated with extensive inflammation throughout the body due to a high interferon state. Common clinical manifestations of this disorder include chronic lung disease, digital necrosis, recurrent low...

journal_title：Journal of clinical immunology

authors： Ma M,Mazumder S,Kwak H,Adams M,Gregory M

更新日期：2020-11-01 00:00:00

abstract：PURPOSE:Nocardiosis is a life-threatening infectious disease. We aimed at describing nocardiosis in patients with primary immunodeficiency diseases (PID). METHODS:This international retrospective cohort included patients with PID and nocardiosis diagnosed and/or published from Jan 1, 2000, to Dec 31, 2016. To identify...

journal_title：Journal of clinical immunology

authors： Lafont E,Marciano BE,Mahlaoui N,Neven B,Bustamante J,Rodriguez-Nava V,Rawat A,Unzaga MJ,Fischer A,Blanche S,Lortholary O,Holland SM,Lebeaux D

更新日期：2020-11-01 00:00:00

abstract：:Activated PI3K δ syndrome (APDS) is a primary immunodeficiency caused by heterogeneous germline gain-of-function mutations which ultimately lead to the hyperactivation of the phosphoinositide-3-kinase δ (PI3K δ). PI3K δ exists as a heterodimer composed of a catalytic and a regulatory subunit. APDS type 2 is caused by ...

journal_title：Journal of clinical immunology

authors： Ramirez L,Tamayo W,Ale H

更新日期：2020-10-01 00:00:00

abstract：PURPOSE:Hemophagocytic lymphohistiocytosis (HLH) is a rare systematic immune disease manifested with excessive activation of lymphocytes and macrophages. This study was designed to explore the feasible prognostic factors of secondary HLH (sHLH). METHOD:We retrospectively analyzed 179 patients with newly diagnosed sHLH...

journal_title：Journal of clinical immunology

authors： Huang J,Yin G,Duan L,Tian T,Xu J,Wang J,Gao X,Cheng W,Liu L,Qiu H

更新日期：2020-07-01 00:00:00

abstract：:The 22q11.2 deletion syndrome (22q11.2 del), also known as DiGeorge syndrome, is a genetic disorder with an estimated incidence of 1:3000 to 1:6000 births. These patients may suffer from affection of many organ systems with cardiac malformations, immunodeficiency, hypoparathyroidism, autoimmunity, palate anomalies, an...

journal_title：Journal of clinical immunology

authors： Grinde D,Øverland T,Lima K,Schjalm C,Mollnes TE,Abrahamsen TG

更新日期：2020-04-01 00:00:00

abstract：:Natural killer (NK) cell deficiency (NKD) is a subset of primary immunodeficiency disorders (PID) in which an abnormality of NK cells represents a major immunological defect resulting in the patient's clinical immunodeficiency. This is distinct from a much larger group of PIDs that include an NK cell abnormality as a ...

journal_title：Journal of clinical immunology

authors： Orange JS

更新日期：2020-01-01 00:00:00

abstract：:We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 430 inborn errors of immunity, including 64 gene defects that have either been...

journal_title：Journal of clinical immunology

authors： Tangye SG,Al-Herz W,Bousfiha A,Chatila T,Cunningham-Rundles C,Etzioni A,Franco JL,Holland SM,Klein C,Morio T,Ochs HD,Oksenhendler E,Picard C,Puck J,Torgerson TR,Casanova JL,Sullivan KE

更新日期：2020-01-01 00:00:00

abstract：:Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification into ten tables. This phenotypic classification is user-friendly and...

journal_title：Journal of clinical immunology

authors： Bousfiha A,Jeddane L,Picard C,Al-Herz W,Ailal F,Chatila T,Cunningham-Rundles C,Etzioni A,Franco JL,Holland SM,Klein C,Morio T,Ochs HD,Oksenhendler E,Puck J,Torgerson TR,Casanova JL,Sullivan KE,Tangye SG

更新日期：2020-01-01 00:00:00

abstract：:The original version of this article contained an error in Fig. 1. The incomplete heredogram mistakenly appeared in panel d. ...

journal_title：Journal of clinical immunology

authors： Zurro NB,de Oliveira Junior EB,França TT,Dantas VM,Tavares de Albuquerque JA,Condino-Neto A

更新日期：2019-11-01 00:00:00

abstract：PURPOSE:To evaluate mortality risk factors in pediatric-onset common variable immunodeficiency disorders (CVID), we evaluated the largest single-institution cohort of pediatric-onset CVID patients. Previous publications on CVID have provided valuable descriptive data, but lack risk stratification to guide physicians in...

journal_title：Journal of clinical immunology

authors： Baloh C,Reddy A,Henson M,Prince K,Buckley R,Lugar P

更新日期：2019-10-01 00:00:00

abstract：PURPOSE:Patients with primary immunodeficiency (PID) are at risk of serious complications. However, data on the incidence and causes of emergency hospital admissions are scarce. The primary objective of the present study was to describe emergency hospital admissions among patients with PID, with a view to identifying "...

journal_title：Journal of clinical immunology

authors： Coignard-Biehler H,Mahlaoui N,Pilmis B,Barlogis V,Brosselin P,De Vergnes N,Debré M,Malphettes M,Frange P,Catherinot E,Pellier I,Durieu I,Perlat A,Royer B,Le Quellec A,Jeziorski E,Fischer A,Lortholary O,CEREDIH French

更新日期：2019-10-01 00:00:00

abstract：:Regulatory T (Treg) cells expressing the transcription factor forkhead box P3 (Foxp3) play a requisite role in the maintenance of immunological homeostasis and prevention of peripheral self-tolerance breakdown. Although Foxp3 by itself is neither necessary nor sufficient to specify many aspects of the Treg cell phenot...

journal_title：Journal of clinical immunology

authors： Georgiev P,Charbonnier LM,Chatila TA

更新日期：2019-10-01 00:00:00

abstract：PURPOSE:Although many studies have investigated Mendelian susceptibility to mycobacterial disease (MSMD) worldwide, there is no report of the long-term clinical management and prognosis for MSMD in China. METHODS:This is a cohort study from January 2000 to June 2018. Three hundred and twenty-four patients with bacillu...

journal_title：Journal of clinical immunology

authors： Ying W,Liu D,Dong X,Wang W,Hui X,Hou J,Yao H,Zhou Q,Sun B,Sun J,Wang X

更新日期：2019-08-01 00:00:00

abstract：OBJECTIVES:Mutations affecting the TMEM173 gene cause STING-associated vasculopathy with onset in infancy (SAVI). No standard immunosuppressive treatment approach is able to control disease progression in patients with SAVI. We studied the efficacy and safety of targeting type I IFN signaling with the Janus kinase inhi...

journal_title：Journal of clinical immunology

authors： Volpi S,Insalaco A,Caorsi R,Santori E,Messia V,Sacco O,Terheggen-Lagro S,Cardinale F,Scarselli A,Pastorino C,Moneta G,Cangemi G,Passarelli C,Ricci M,Girosi D,Derchi M,Bocca P,Diociaiuti A,El Hachem M,Cancrini C,To

更新日期：2019-07-01 00:00:00

abstract：PURPOSE:Colitis is a common and serious complication of chronic granulomatous disorder (CGD) and requires assessment. Colonoscopy is invasive and carries risks of serious complication. We therefore assessed non-invasive monitoring via magnetic resonance imaging (MRI). We also evaluated fecal calprotectin (FCP), the Har...

journal_title：Journal of clinical immunology

authors： Lowe DM,Smith PJ,Moreira F,Workman S,Braggins H,Koukias N,Buckland MS,Wylie P,Taylor SA,Murray CD

更新日期：2019-07-01 00:00:00

abstract：:The original version of this article unfortunately contained mistake in the following sentence in the Abstract. ...

journal_title：Journal of clinical immunology

authors： Pöyhönen L,Bustamante J,Casanova JL,Jouanguy E,Zhang Q

更新日期：2019-07-01 00:00:00

abstract：PURPOSE:This study aimed to characterize the clinical phenotype, genetic basis, and consequent immunological phenotype of a boy with severe infantile-onset colitis and eosinophilic gastrointestinal disease, and no evidence of recurrent or severe infections. METHODS:Trio whole-exome sequencing (WES) was utilized for pa...

journal_title：Journal of clinical immunology

authors： Kurolap A,Eshach Adiv O,Konnikova L,Werner L,Gonzaga-Jauregui C,Steinberg M,Mitsialis V,Mory A,Nunberg MY,Wall S,Shaoul R,Overton JD,Regeneron Genetics Center.,Shuldiner AR,Zohar Y,Paperna T,Snapper SB,Shouval DS,Bari

更新日期：2019-05-01 00:00:00

abstract：PURPOSE:Chronic granulomatous disease (CGD) is a primary immunodeficiency for which allogeneic hematopoietic stem cell transplant (HSCT) offers potential cure. Direct comparison of HSCT to non-HSCT management in the North American population was performed to identify clinical factors associated with overall survival (O...

journal_title：Journal of clinical immunology

authors： Yonkof JR,Gupta A,Fu P,Garabedian E,Dalal J,the United States Immunodeficiency Network Consortium.

更新日期：2019-05-01 00:00:00

abstract：:Live-attenuated vaccines (LAVs) can protect humans against 12 viral and three bacterial diseases. By definition, any clinical infection caused by a LAV that is sufficiently severe to require medical intervention attests to an inherited or acquired immunodeficiency that must be diagnosed or identified. Self-healing inf...

journal_title：Journal of clinical immunology

authors： Pöyhönen L,Bustamante J,Casanova JL,Jouanguy E,Zhang Q

更新日期：2019-05-01 00:00:00

abstract：PURPOSE:Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency, triggered by non-tuberculous mycobacteria or Bacillus Calmette-Guérin (BCG) vaccines and characterized by severe diseases. All known genetic etiologies are inborn errors of IFN-γ-mediated immunity. Here, we report the m...

journal_title：Journal of clinical immunology

authors： Sarrafzadeh SA,Nourizadeh M,Mahloojirad M,Fazlollahi MR,Shokouhi Shoormasti R,Badalzadeh M,Deswarte C,Casanova JL,Pourpak Z,Bustamante J,Moin M

更新日期：2019-04-01 00:00:00

abstract：PURPOSE:Immune thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia (AIHA) are associated in the definition of Evans syndrome (ES). The occurrence of neurological involvement in this population is poorly described and suggests an underlying primary immunodeficiency (PID). We aimed to describe the clinical man...

journal_title：Journal of clinical immunology

authors： Pincez T,Neven B,Le Pointe HD,Varlet P,Fernandes H,Gareton A,Leverger G,Leblanc T,Chambost H,Michel G,Pasquet M,Millot F,Hermine O,Mathian A,Hully M,Zephir H,Hamidou M,Durand JM,Perel Y,Landman-Parker J,Rieux-Lauc

更新日期：2019-02-01 00:00:00

abstract：PURPOSE:Tumor necrosis factor alpha-induced protein 3 (TNFAIP3, A20) is a negative regulator of the nuclear factor-κB (NF-κB) pathway. It has recently been recognized that TNFAIP3 deficiency leads to early onset of autoinflammatory and autoimmune syndrome resembling Behçet's disease. Here, we report a novel mutation in...

journal_title：Journal of clinical immunology

authors： Dong X,Liu L,Wang Y,Yang X,Wang W,Lin L,Sun B,Hou J,Ying W,Hui X,Zhou Q,Liu D,Yao H,Sun J,Wang X

更新日期：2019-02-01 00:00:00

abstract：:Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency among adults and is characterized by a B cell dysfunction and increased risk of respiratory tract infections with encapsulated bacteria. However, a large proportion of patients also has inflammatory and autoimmune complicat...

journal_title：Journal of clinical immunology

authors： Jørgensen SF,Fevang B,Aukrust P

更新日期：2019-01-01 00:00:00

abstract：BACKGROUND:Chronic granulomatous disease (CGD) is characterized by mutation in any one of the five genes coding NADPH oxidase components that leads to functional abnormality preventing the killing of phagocytosed microbes by affecting the progression of a respiratory burst. CGD patients have an increased susceptibility...

journal_title：Journal of clinical immunology

authors： Kulkarni M,Hule G,de Boer M,van Leeuwen K,Kambli P,Aluri J,Gupta M,Dalvi A,Mhatre S,Taur P,Desai M,Madkaikar M

更新日期：2018-11-01 00:00:00

abstract：PURPOSE:To review the clinical and laboratory spectrum of RAG gene defects in humans, and discuss the mechanisms underlying phenotypic heterogeneity, the basis of immune dysregulation, and the current and perspective treatment modalities. METHODS:Literature review and analysis of medical records RESULTS: RAG gene defe...

journal_title：Journal of clinical immunology

authors： Delmonte OM,Schuetz C,Notarangelo LD

更新日期：2018-08-01 00:00:00

abstract：:Hematopoietic stem cell transplantation (HSCT) is curative for severe combined immunodeficiency (SCID), but data on long-term impact of pre-HSCT chemotherapy, immune reconstitution and quality of life (QoL) of specific SCID genotypes are limited. We evaluated the long-term immune-reconstitution, health outcome and QoL...

journal_title：Journal of clinical immunology

authors： Abd Hamid IJ,Slatter MA,McKendrick F,Pearce MS,Gennery AR

更新日期：2018-08-01 00:00:00

abstract：PURPOSE:Poikiloderma with neutropenia (PN) is a genodermatosis currently described in 77 patients, all presenting with early-onset poikiloderma, neutropenia, and several additional signs. Biallelic loss-of-function mutations in USB1 gene are detected in all molecularly tested patients but genotype-phenotype correlation...

journal_title：Journal of clinical immunology

authors： Colombo EA,Elcioglu NH,Graziano C,Farinelli P,Di Fede E,Neri I,Facchini E,Greco M,Gervasini C,Larizza L

更新日期：2018-05-01 00:00:00

abstract：:The Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder originally described by Dr. Alfred Wiskott in 1937 and Dr. Robert Aldrich in 1954 as a familial disease characterized by infections, bleeding tendency, and eczema. Today, it is well recognized that the syndrome has a wide clinical spectrum ranging from mil...

journal_title：Journal of clinical immunology

authors： Candotti F

更新日期：2018-01-01 00:00:00

abstract：INTRODUCTION:Non-homologous end joining gene 1 (NHEJ1) defect is a rare form of primary immune deficiency. Very few cases have been described from around the world. PURPOSE:We are reporting the first family from the Arabian Gulf with three siblings presenting with combined immunodeficiency (CID), microcephaly, and gro...

journal_title：Journal of clinical immunology

authors： Sheikh F,Hawwari A,Alhissi S,Al Gazlan S,Al Dhekri H,Rehan Khaliq AM,Borrero E,El-Baik L,Arnaout R,Al-Mousa H,Alazami AM

更新日期：2017-08-01 00:00:00

abstract：PURPOSE:Inherited defects in the adenosine deaminase (ADA) enzyme can cause severe combined immune deficiency (SCID) and systemic abnormalities. Management options for ADA-deficient patients include enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and gene therapy (GT). Here, we describ...

journal_title：Journal of clinical immunology

authors： Scott O,Kim VH,Reid B,Pham-Huy A,Atkinson AR,Aiuti A,Grunebaum E

更新日期：2017-08-01 00:00:00

abstract：PURPOSE:The specific antibody response to the unconjugated 23-valent pneumococcal polysaccharide vaccine is one of the most common tests used to assess for possible humoral immunodeficiency. The results can be difficult to interpret because most people have been immunized with one or more of the pneumococcal vaccines a...

journal_title：Journal of clinical immunology

authors： Bausch-Jurken MT,Verbsky JW,Gonzaga KA,Elms NP,Hintermeyer MK,Gauld SB,Routes JM

更新日期：2017-07-01 00:00:00

abstract：OBJECTIVE:The aim of the study was to assess the diagnostic delay in pediatric patients with primary immunodeficiencies (PID) at a tertiary care hospital in Peru. METHODS:A descriptive study was carried out in which patients from a third-level referral center in Peru were included. Those without a specific diagnosis o...

journal_title：Journal of clinical immunology

authors： Veramendi-Espinoza LE,Zafra-Tanaka JH,Pérez-Casquino GA,Córdova-Calderón WO

更新日期：2017-05-01 00:00:00

abstract：:An emerging paradigm for the treatment of primary immunodeficiency disease (PIDD) with immunoglobulin (IgG) replacement therapy emphasizes the tailoring of treatments to each patient with the goal of preventing infections and minimizing side effects. Increasing evidence shows that the IgG dose needed to prevent infect...

journal_title：Journal of clinical immunology

authors： Shapiro RS,Wasserman RL,Bonagura V,Gupta S

更新日期：2017-02-01 00:00:00

abstract：:Severe congenital neutropenia (SCN), originally described by the Swedish pediatrician Rolf Kostmann, constitutes a heterogeneous disorder associated with a dramatic decrease of peripheral neutrophil granulocytes. Patients suffer from life-threatening bacterial infections unless treated by recombinant human granulocyte...

journal_title：Journal of clinical immunology

authors： Klein C

更新日期：2017-02-01 00:00:00

abstract：INTRODUCTION:Autoantibodies to granulocyte-macrophage colony-stimulating factor (GM-CSF) can cause acquired pulmonary alveolar proteinosis (PAP). Cases of acquired PAP susceptible to typical respiratory pathogens and opportunistic infections have been reported. Anti-GM-CSF autoantibodies have been reported in a few pat...

journal_title：Journal of clinical immunology

authors： Kuo CY,Wang SY,Shih HP,Tu KH,Huang WC,Ding JY,Lin CH,Yeh CF,Ho MW,Chang SC,He CY,Chen HK,Ho CH,Lee CH,Chi CY,Ku CL

更新日期：2017-02-01 00:00:00

abstract：:The prevalence of lymphoma in primary immunodeficiency cases and autoimmune diseases, as well as on a background of immunodeficiency following organ transplants, is increasing. The lymphoma treatment success rate is known to be a low prognosis. Our study aimed to emphasize the low survival rates in immunodeficient vs....

journal_title：Journal of clinical immunology

authors： Tanyildiz HG,Dincaslan H,Yavuz G,Unal E,Ikinciogulları A,Dogu F,Tacyildiz N

更新日期：2016-10-01 00:00:00

abstract：PURPOSE:The previous studies with Flebogamma(®) 5 % DIF intravenous immunoglobulin (IVIG) contained insufficient numbers of pediatric subjects to fully warrant a pediatric indication by the FDA. The objective of this study was to evaluate the efficacy, safety, and pharmacokinetics of Flebogamma® 5 % DIF for replacement...

journal_title：Journal of clinical immunology

authors： Ballow M,Pinciaro PJ,Craig T,Kleiner G,Moy J,Ochs HD,Sleasman J,Smits W

更新日期：2016-08-01 00:00:00