TY - JOUR
T1 - Case Report
T2 - Reactive Lymphohistiocytic Proliferation in Infant With a Novel Nonsense Variant of IL2RG Who Received BCG Vaccine
AU - Yahya, Amal M.
AU - Al-Hammadi, Suleiman
AU - AlHashaykeh, Nidal O.
AU - Alkaabi, Salwa S.
AU - Elomami, Abdulghani S.
AU - AlMulla, Asia A.
AU - Alremeithi, Majed M.
AU - Kabbary, Rewan M.
AU - Vijayan, Ranjit
AU - Souid, Abdul Kader
N1 - Publisher Copyright:
© Copyright © 2021 Yahya, Al-Hammadi, AlHashaykeh, Alkaabi, Elomami, AlMulla, Alremeithi, Kabbary, Vijayan and Souid.
PY - 2021/11/2
Y1 - 2021/11/2
N2 - We present here a male young infant with X-linked severe combined immunodeficiency (MIM#300400) due to the novel nonsense variant of IL2RG (interleukin 2 receptor, gamma; MIM#308380), NM_000206.2(IL2RG):c.820_823dup p.Ser275Asnfs*29. He developed aggressive reactive lymphohistiocytic proliferation after receiving the live-attenuated Bacillus Calmette-Guérin (BCG) vaccine at birth. This report advocates for modifying the current practice of early use of BCG. The natural history of his disease also suggests considering IL2RG variants as a potential cause of “X-linked recessive Mendelian susceptibility to mycobacterial disease” (MSMD). His reactive lymphohistiocytic proliferation and massive hepatosplenomegaly simulated hemophagocytic lymphohistiocytosis (HLH, likely triggered by the BCG disease). This entity was masked by the absence of fever and markedly elevated inflammatory biomarkers. Thus, his findings stimulate discussion on the need to modify the diagnostic criteria of HLH, in order to accommodate conditions, such IL2RG variants that block systemic inflammation.
AB - We present here a male young infant with X-linked severe combined immunodeficiency (MIM#300400) due to the novel nonsense variant of IL2RG (interleukin 2 receptor, gamma; MIM#308380), NM_000206.2(IL2RG):c.820_823dup p.Ser275Asnfs*29. He developed aggressive reactive lymphohistiocytic proliferation after receiving the live-attenuated Bacillus Calmette-Guérin (BCG) vaccine at birth. This report advocates for modifying the current practice of early use of BCG. The natural history of his disease also suggests considering IL2RG variants as a potential cause of “X-linked recessive Mendelian susceptibility to mycobacterial disease” (MSMD). His reactive lymphohistiocytic proliferation and massive hepatosplenomegaly simulated hemophagocytic lymphohistiocytosis (HLH, likely triggered by the BCG disease). This entity was masked by the absence of fever and markedly elevated inflammatory biomarkers. Thus, his findings stimulate discussion on the need to modify the diagnostic criteria of HLH, in order to accommodate conditions, such IL2RG variants that block systemic inflammation.
KW - BCG vaccine
KW - IEI
KW - IL2RG
KW - Mendelian susceptibility to mycobacterial disease (MSMD)
KW - SCID
KW - hemophagocytic lymphohistiocytosis (HLH)
KW - lymphohistiocytic proliferation
KW - lymphoid proliferation
UR - http://www.scopus.com/inward/record.url?scp=85119323912&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85119323912&partnerID=8YFLogxK
U2 - 10.3389/fped.2021.713924
DO - 10.3389/fped.2021.713924
M3 - Article
AN - SCOPUS:85119323912
SN - 2296-2360
VL - 9
JO - Frontiers in Pediatrics
JF - Frontiers in Pediatrics
M1 - 713924
ER -