A novel zeta-associated protein 70 homozygous mutation causing combined immunodeficiency presenting as neonatal autoimmune hemolytic anemia

2021 ◽  
Author(s):  
Eduard Ling ◽  
Arnon Broides ◽  
Galina Ling ◽  
George Shubinsky ◽  
Nurit Hadad ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Autoimmune Hemolytic Anemia ◽  
Homozygous Mutation ◽  
Combined Immunodeficiency

A Homozygous RAG1 Gene Mutation in a Case of Combined Immunodeficiency: Clinical, Molecular, and Computational Analysis

2019 ◽  
Vol 84 (6) ◽  
pp. 272-278
Author(s):  
Soukaina Essadssi ◽  
Ibtihal Benhsaien ◽  
Amina Bakhchane ◽  
Hicham Charoute ◽  
Houria Abdelghaffar ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Autoimmune Hemolytic Anemia ◽  
Homozygous Mutation ◽  
Combined Immunodeficiency ◽  
Cmv Infection ◽  
Rag1 Gene ◽  
Whole Exome ◽  
Immunological Phenotype ◽  
Recombination Activating Gene ◽  
Genetic Profiles

<b><i>Background:</i></b> The recombination-activating gene 1 and 2 (RAG1/RAG2) proteins are essential to initiate the V(D)J recombination process, the result is a diverse repertoire of antigen receptor genes and the establishment of the adaptive immunity. RAG1 mutations can lead to multiple forms of combined immunodeficiency. <b><i>Methods:</i></b> In this report, whole exome sequencing was performed in a Moroccan child suffering from combined immunodeficiency, with T and B lymphopenia, autoimmune hemolytic anemia, and cytomegalovirus (CMV) infection. <b><i>Results:</i></b> After filtering data and Sanger sequencing validation, one homozygous mutation c.2446G&#x3e;A (p.Gly816Arg) was identified in the RAG1 gene. <b><i>Conclusion:</i></b> This finding expands the spectrum of immunological and genetic profiles linked to RAG1 mutation, it also illustrates the necessity to consider RAG1 immunodeficiency in the presence of autoimmune hemolytic anemia and CMV infection, even assuming the immunological phenotype appears more or less normal.

Combined Immunodeficiency, Hemolytic Anemia, and Growth Retardation Secondary to a Homozygous Mutation in the NHEJ1 Gene

2020 ◽  
Vol 42 (4) ◽  
pp. 333-335
Author(s):  
Reem Al-Marhoobi ◽  
Musleh Al-Musalhi ◽  
Shafiq-Ur-Rehman Naseem ◽  
Yasser Wali ◽  
Abeer Alsayegh ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Growth Retardation ◽  
Homozygous Mutation ◽  
Combined Immunodeficiency

Fatal Warm Autoimmune Hemolytic Anemia Resulting From IgM Autoagglutinins in an Infant With Severe Combined Immunodeficiency

2001 ◽  
Vol 23 (4) ◽  
pp. 250-252 ◽  
Author(s):  
Anna Nowak-Wegrzyn ◽  
Karen E. King ◽  
R. Sue Shirey ◽  
Allen R. Chen ◽  
Colleen McDonough ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Autoimmune Hemolytic Anemia ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency

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 Combined immunodeficiency presenting as autoimmune hemolytic anemia

2017 ◽  
Vol 139 (2) ◽  
pp. AB22 ◽  
Author(s):  
Aman Nasir ◽  
Jason W. Caldwell ◽  
Katharine Batt ◽  
Talal I. Mousallem
Keyword(s):  
Hemolytic Anemia ◽  
Autoimmune Hemolytic Anemia ◽  
Combined Immunodeficiency

Autoimmune hemolytic anemia

1975 ◽  
Vol 135 (10) ◽  
pp. 1293-1300 ◽  
Author(s):  
J. V. Dacie
Keyword(s):  
Hemolytic Anemia ◽  
Autoimmune Hemolytic Anemia

Giant cell hepatitis and Coomb’s positive autoimmune hemolytic anemia: a case report and literature review

2014 ◽  
Vol 25 (1) ◽  
Author(s):  
Hasan M. Isa ◽  
◽  
Lina F. Al Ali ◽  
Afaf M. Mohamed ◽  
Rawia M. Hamad ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Giant Cell ◽  
Hemolytic Anemia ◽  
Autoimmune Hemolytic Anemia ◽  
Giant Cell Hepatitis
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