![]() ![]() For example, some germs must attach to body cells before they can cause an infection and antibodies prevent the germs from sticking to the body's cells. Antibodies bound to the surface of a germ can have one or more effects that are beneficial. When a germ, such as bacteria, lands on a mucous membrane, or enters the body, antibody molecules that recognize the germ stick to its surface. Antibodies are an integral part of the body's defense mechanism against germs. The basic defect in agammaglobulinemia is an inability of the patient to produce antibodies. This results from the failure of precursor-B cells to develop into mature B cells and plasma cells. People with genetic causes of low or absent antibodies (agammaglobulinemia) have a severe form of antibody deficiency with absent B cells. They have very low or absent levels of all types of antibodies and an increased risk of infection. Most of the major problems have been addressed by this revision.Some people with primary immunodeficiency diseases (PI) lack the cells that are responsible for producing antibodies (immunoglobulins). The authors have clarified several of the questions I raised in my previous review. Future studies can use these insights to develop new treatment strategies for patients with inborn errors of B-cell immunity, please expand referring to 10.1016/B978-0-12-818731-9.00124-5 The case of the male patient underscores the importance of hematopoietic stem cell transplantation (HSCT) in treating severe cases of inborn errors of immunity. In contrast, mutations in genes such as TCF3, Ikaros, and Pax5 lead to early B-cell defects. Mutations in genes such as BTK, IGM, CD79a/b, BLNK, L14.1, or PI3Kalpha can affect pre-BCR signaling and lead to disorders such as XLA or AR. The development of the BCR involves several stages, including the formation of the pre-BCR, which is crucial for the first checkpoint in the Pre-BII stage. ![]() Mutations in early transcription factors such as TCF3, Ikaros, and Pax5 can lead to early B-cell deficiencies. The development of B-cells from lymphoid progenitors involves the expression of various transcription factors, including PAX5, which is a B-cell commitment factor. This reviewer personally misses some insights regarding the following points: The findings from this case could have implications for the development of new treatment strategies and genetic counseling for patients with similar conditions. In summary, this case report provides important insights into the treatment and genetic basis of XLA and XCGD and highlights the need for further research in this area. This case also emphasizes the importance of considering the possibility of coexisting genetic conditions in patients with complex clinical presentations, even if they are not typically associated. Understanding the genetic basis of these conditions can help with early diagnosis, personalized treatment, and genetic counseling for affected individuals and their families. This case can also serve as a starting point for future research into the genetic and immunological mechanisms underlying the co-occurrence of XLA and XCGD, which may help to identify potential therapeutic targets for these conditions.įurthermore, the identification of the hypomorphic gp91phox variant in the CYBB gene in this patient highlights the importance of genetic testing in patients with complex immunological disorders. ![]() The successful treatment of both conditions with HSCT suggests that this could be a potential treatment option for other patients with similar conditions. The case of the male patient with coexisting XLA and XCGD is a valuable and rare case for further studies that are clinically appealing. At what age do the authors consider the onset of CGD in the child?Īuthor Response File: Author Response.pdf Please add the history of infection in the child after starting IVIG to XLA.ģ. ![]() Please describe the child's immunization history.Ģ. This paper is well written and worthy of publication. Thank you for submitting your valuable case report. ![]()
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