Stiehm's Immune Deficiencies 2014
DOI: 10.1016/b978-0-12-405546-9.00015-7
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Class-Switch Recombination Defects

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Cited by 2 publications
(15 citation statements)
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“…Deficiencies in CD40L, CD40, AID, UNG, NEMO, IkBα, ATM, and PMS2 represent the previously identified forms of CSR/HIGM syndromes. While the clinical manifestations can be variable, the HIGM phenotype can be divided into those disorders that directly affect the CD40/CD40L pathway (B- and T-cells are impacted), and those like AID, UNG, NEMO, IkBα, ATM, and PMS2 where mainly B cells are affected in the CSR/HIGM defect ( 3 , 5 – 7 ). The more relevant and comparative characteristics of these diseases are summarized in Table 1 .…”
Section: Hyper-igm Syndromesmentioning
confidence: 99%
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“…Deficiencies in CD40L, CD40, AID, UNG, NEMO, IkBα, ATM, and PMS2 represent the previously identified forms of CSR/HIGM syndromes. While the clinical manifestations can be variable, the HIGM phenotype can be divided into those disorders that directly affect the CD40/CD40L pathway (B- and T-cells are impacted), and those like AID, UNG, NEMO, IkBα, ATM, and PMS2 where mainly B cells are affected in the CSR/HIGM defect ( 3 , 5 – 7 ). The more relevant and comparative characteristics of these diseases are summarized in Table 1 .…”
Section: Hyper-igm Syndromesmentioning
confidence: 99%
“…The inability of mutated CD40L protein to bind to CD40 affects CD4 T-cell and B-cell interactions, impairing CSR, SHM, T-cell co-stimulation, and development of memory B cells, resulting in a combined immunodeficiency. Patients with this disorder present in infancy with recurrent sinopulmonary infections, and opportunistic infections, such as Pneumocystis jirovecii pneumonia (PJP), or Cryptosporidium -induced diarrhea and sclerosing cholangitis, which may predispose patients to tumors of the liver, pancreas or biliary tree [reviewed in ( 3 8 , 22 )]. In addition to the characteristic immunoglobulin findings, neutrophils can also be low.…”
Section: Hyper-igm Syndromesmentioning
confidence: 99%
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