scholarly journals Pulmonary Radiological Manifestations of Humoral and Combined Immunodeficiencies in a Tertiary Pediatric Center

2021 ◽  
Author(s):  
Mitra Khalili ◽  
Hossein Farzi ◽  
Sepideh Darougar ◽  
Fatemeh Hajijoo ◽  
Mehrnaz Mesdaghi ◽  
...  
Keyword(s):  
Severe Combined Immunodeficiency ◽  
Primary Immunodeficiencies ◽  
Significant Finding ◽  
X Rays ◽  
Combined Immunodeficiency ◽  
Significant Difference ◽  
Radiological Patterns ◽  
Hyper Igm ◽  
Combined Immunodeficiencies ◽  
Common Variable

Respiratory diseases are considered as significant causes of morbidity and mortality in primary immunodeficiencies. This study aimed to reveal the radiologic patterns of thoracic involvement in these disorders. A total of 58 patients, including 38 cases with combined cellular-humoral and 20 cases with humoral immunodeficiencies, were enrolled in this study. The “combined” group consisted of 12 cases with severe combined immunodeficiency (SCID) and 26 cases with combined immunodeficiency. The “humoral” group included seven patients with Hyper IgM syndrome (HIGMs), seven cases with common variable immunodeficiency (CVID), three patients with X-linked agammaglobulinemia, and three patients with other types of humoral primary immunodeficiencies (PIDs). The mean age of patients at the time of evaluation was 3.3±3.8 and 5.3±3.9 years in combined and humoral groups, respectively. The findings of chest X-rays and CT scans were interpreted and compared. There was a significant difference for alveolar opacification between combined and humoral immunodeficiencies (58% vs. 30%). The bronchopneumonia-like pattern was detected as a significant finding in patients with SCID (42%) and HIGMs (43%). Atrophy of the thymus was detected significantly often in cases of SCID (67%). Two patients with CVID and lipopolysaccharide-responsive and beige-like anchor protein deficiency showed parenchymal changes of granulomatous lymphocytic interstitial lung disease. No significant difference was detected for bronchiectasis, bronchitis/bronchiolitis patterns, pleural effusion, and thoracic lymphadenopathy. lymphadenopathy. Distinct subtypes of primary immunodeficiency may provoke differing and comparable radiological patterns of thoracic involvement; which can clue the clinician and radiologist to the diagnosis of the disease.

scholarly journals A súlyos kombinált immundefektusok újszülöttkori szűrővizsgálata

2018 ◽  
Vol 159 (23) ◽  
pp. 948-956
Author(s):  
Melinda Erdős
Keyword(s):  
Immune Deficiency ◽  
Newborn Screening ◽  
Screening Program ◽  
Severe Combined Immunodeficiency ◽  
The United States ◽  
Combined Immunodeficiency ◽  
Newborn Screening Program ◽  
Negative Family History ◽  
Combined Immunodeficiencies ◽  
Severe Combined Immunodeficiencies

Abstract: Severe combined immunodeficiency is the first immune deficiency disorder which was included in the newborn screening program in the United States in 2010. In Hungary, newborn screening for severe combined immunodeficiencies is crucial because of the routine BCG vaccination, as in the case of an affected newborn with negative family history, the vaccine may lead to fatal BCG-itis. This paper analyzes the possibilities of introducing newborn screening for severe combined immunodeficiencies and summarizes current experiences and results. Orv Hetil. 2018; 159(23): 948–956.

Primary immunodeficiencies (PIDs) presenting with cytopenias

Hematology ◽  
2009 ◽  
Vol 2009 (1) ◽  
pp. 139-143 ◽  
Author(s):  
Luigi D. Notarangelo
Keyword(s):  
Hemolytic Anemia ◽  
Autoimmune Hemolytic Anemia ◽  
Hematopoietic Cell Transplantation ◽  
Primary Immunodeficiencies ◽  
Combined Immunodeficiency ◽  
T And B Cells ◽  
Full Resolution ◽  
Lymphoproliferative Syndrome ◽  
Autoimmune Cytopenias ◽  
Common Variable

Abstract Autoimmune manifestations are increasingly being recognized as a component of several forms of primary immunodeficiencies (PID). Defects in purging of self-reactive T and B cells, impaired Fas-mediated apoptosis, abnormalities in development and/or function of regulatory T cells, and persistence of immune activation as a result of inability to clear infections have been shown to account for this association. Among autoimmune manifestations in patients with PID, cytopenias are particularly common. Up to 80% of patients with autoimmune lymphoproliferative syndrome (ALPS) have autoantibodies, and autoimmune hemolytic anemia and immune thrombocytopenia have been reported in 23% and 51% of ALPS patients, and may even mark the onset of the disease. ALPS-associated cytopenias are often refractory to conventional treatment and represent a therapeutic challenge. Autoimmune manifestations occur in 22% to 48% of patients with common variable immunodeficiencies (CVIDs), and are more frequent among CVID patients with splenomegaly and granulomatous disease. Finally, autoimmune cytopenias have been reported also in patients with combined immunodeficiency. In particular, autoimmune hemolytic anemia is very common among infants with nucleoside phosphorylase deficiency. While immune suppression may be beneficial in these cases, full resolution of the autoimmune manifestations ultimately depends on immune reconstitution, which is typically provided by hematopoietic cell transplantation.

scholarly journals Correlation between interleukin-1 production and engraftment of transplanted bone marrow stem cells in patients with lethal immunodeficiencies

Blood ◽  
1989 ◽  
Vol 73 (6) ◽  
pp. 1712-1719 ◽  
Author(s):  
I Sahdev ◽  
R O'Reilly ◽  
MK Hoffman
Keyword(s):  
T Cell ◽  
Interleukin 1 ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Marrow Graft ◽  
Functional Development ◽  
Heterogeneous Expression ◽  
Normal Production ◽  
Combined Immunodeficiencies ◽  
Normal Controls

Abstract Interleukin-1 (IL-1) production by endotoxin-stimulated, cultured monocytes from 19 patients with lethal congenital immune disorders were studied and compared with normal controls. Lipopolysaccharide (LPS) stimulated IL-1 production was normal in three of three patients with Wiskott Aldrich syndrome (WAS), two of three combined immunodeficiency with T-cell predominance (CIDTP) and nine of 13 with severe combined immunodeficiency (SCID). Monocytes deficient in IL-1 production could be restored to normal production after incubation with indomethacin in three of five deficient patients. Monocytes from the other two patients could not be induced to generate IL-1, suggesting either an intrinsic deficiency or an alternate inhibitory mechanism as the basis for the IL- 1 deficiency observed. In patients with SCID who were transplanted with HLA-haplotype disparate, T-cell depleted marrow without preparative chemotherapy, deficiency of monocyte IL-1 production was correlated with graft failure. Immune reconstitution was achieved in IL-1 deficient patients only when donor monocytes were also engrafted. We hypothesize that deficiencies of IL-1 production may contribute to the heterogeneous expression of combined immunodeficiencies, and may also restrict the engraftment and functional development of allogeneic lymphoid progenitors from a T-cell depleted marrow graft.

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