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Primary Immunodeficiency Diseases
Published in Donald Rudikoff, Steven R. Cohen, Noah Scheinfeld, Atopic Dermatitis and Eczematous Disorders, 2014
Adam Friedman, Manju Chacko Dawkins, Donald Rudikoff
Intractable diarrhea in a male infant, especially in the presence of an eczematous skin rash, villous atrophy on intestinal biopsy, and failure to thrive, should strongly suggest the diagnosis of IPEX (Torgerson and Ochs 2007). The presence of other features of IPEX such as type 1 diabetes, hypothyroidism, Coombs-positive hemolytic anemia, leukopenia, thrombocytopenia, and elevated IgE levels make the diagnosis even more likely. Absence of immunostaining for FOXP3 cells in the lamina propria and lymphoid aggregates in intestinal biopsy specimens are highly suggestive of severe IPEX (Heltzer et al. 2007). Diagnosis should be confirmed by genetic testing for FOXP3 mutant alleles and, if negative, may suggest an IPEX-like syndrome such as CD25 deficiency (Caudy et al. 2007).
Polyautoimmunity in Patients with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency
Published in Immunological Investigations, 2018
Gholamreza Azizi, Hassan Abolhassani, Majid Zaki-Dizaji, Sima Habibi, Hamed Mohammadi, Mohammadreza Shaghaghi, Reza Yazdani, Juan-Manuel Anaya, Nima Rezaei, Lennart Hammarström, Asghar Aghamohammadi
On the other hand, the coexistence of autoimmune cytopenias (ITP and AIHA) with IBD in non-immunodeficient patients has been reported (Boyne and Dye, 2000; Manosa et al., 2005). Recently, in a cohort study of Uzzan et al. (2017), incidences of AIHA and ITP in IBD were estimated to be 4.1/100,000 patient-years and 12.5/100,000 patient-years, respectively (Uzzan et al., 2017). Also, Toru Shizuma in 2015 performed two reviews of 17 identified cases of concomitant ITP and IBD, as well as seven cases of concomitant AIHA and IBD (Shizuma, 2015b, 2015a). Nevertheless, in none of these cases genomic investigation regarding LRBA gene was performed. Hypothetically, the mechanism for this concomitance may be a CTLA-4 loss, severe colonic inflammation, as well as antibody production to colonic lumen antigens during severe colitis which cross react with blood cells, surface antigens (Boyne and Dye, 2000). A dramatic and sustained autoimmune colitis and CTLA-4 loss have been reported in patients with LRBA deficiency (Alangari et al., 2012; Lo et al., 2015). Apart from ITP, AIHA, and IBD, CTLA-4 deficiency has also been associated with increased susceptibility to other ADs such as IDDM, AIT, and RA (Pavkovic et al., 2003). Considering the spectrum of different autoimmune conditions observed in patients with LRBA deficiency and other monogeneic PIDs (such as CTLA-4 deficiency, CD25 deficiency, STAT5b deficiency, IPEX, and STAT3 GOF disease), further studies aimed at evaluate the clustering and grouping of ADs in these patients are warranted.
Protein-losing enteropathy caused by Yersinia enterocolitica colitis
Published in Paediatrics and International Child Health, 2021
Lara Ferreira, Raquel Amaral, Fernanda Gomes, José Cabral
Considering that there was chronic enteropathy, an immune dysregulation regarding regulatory T-cell (Treg) disorder was considered. Flow cytometry was used to assess lymphocyte populations in Treg cell subsets in order to exclude an immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX syndrome) or an IPEX-like syndrome, as in cases of CTLA4 and CD25 deficiency [5]. Flow cytometry results were all normal.
In neonates with vitamin D deficiency, low lymphocyte activation markers are risk factors for infection
Published in Paediatrics and International Child Health, 2019
Mervat A. M. Youssef, Asmaa M. Zahran, Al Montasser Hussien, Khalid I. Elsayh, Eman A. Askar, Hekma Saad Farghaly
CD25 deficiency leads to immune suppression and increases susceptibility to viral, fungal and bacterial infections [41]. Also, decreased expression of HLA-DR molecules in newborns has been found to be associated with impaired host immune defence, a high incidence of bacterial infections and pulmonary morbidity, especially in preterm infants [42].