Elective bone marrow transplantation in a child with X-linked hyper-IgM syndrome presenting with acute respiratory distress syndrome

Leone, Valentina; Tommasini, Alberto; Andolina, M; Runti, Giulia; Vonderweid, Umberto de; Campello, Cesare; Notarangelo, LD; Ventura, Alessandro

doi:10.1038/sj.bmt.1703581

Cited by 16 publications

(12 citation statements)

References 17 publications

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“…A 28 year old man with recurrent herpes labialis had 7 years of recalcitrant common warts on the elbows and dorsal surfaces of the hands and knees 169 . Allogeneic HSCT is currently the treatment of choice for CD40L deficiency 170 . Clinical management is with administration of IVIg and prophylactic antibiotics.…”

Section: Cd40l Deficiency (X-linked Hyper Igm Syndrome Xhigm1)mentioning

confidence: 99%

Warts and all: Human papillomavirus in primary immunodeficiencies

Leiding

Holland

2012

Journal of Allergy and Clinical Immunology

161

164

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Infection with human papilloma virus (HPV) is almost universal and eventually asymptomatic, but pathologic infection with HPV is severe, recurrent, and recalcitrant to therapy. It is also an underappreciated manifestation of primary immunodeficiency. Mutations in EVER1, EVER2, GATA2, CXCR4, and DOCK8 are typically associated with extensive HPV infections, whereas several other primary immune defects have severe HPV much less frequently. We review immunodeficiencies with severe HPV infections and the mechanisms underlying them.

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Section: Cd40l Deficiency (X-linked Hyper Igm Syndrome Xhigm1)mentioning

confidence: 99%

Warts and all: Human papillomavirus in primary immunodeficiencies

Leiding

Holland

2012

Journal of Allergy and Clinical Immunology

161

164

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“…Our statistical analysis suggests that some patients with low IgM serum levels may not have been tested for an X-HIGM and, therefore, the numbers of X-HIGM patients with low IgM levels may even be underestimated. Furthermore, X-HIGM patients with normal IgG [22] or IgA [23] levels have also been reported. This review underlines the fact that CD40L mutations leading to immunoglobulin class switch defects are showing enormous inter-patient variations regarding serum IgM levels.…”

Section: Discussionmentioning

confidence: 93%

Pitfalls of “hyper”-IgM syndrome: a new CD40 ligand mutation in the presence of low IgM levels. A case report and a critical review of the literature

et al. 2010

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Here, we report on a male infant with low serum IgG, IgA and IgM levels who suffered from Pneumocystis jirovecii and cytomegalovirus (CMV) pneumonia. The patient was tested to be HIV-negative. Absolute and relative numbers of lymphocyte subsets were normal, excluding the diagnosis of an X-linked agammaglobulinaemia (Bruton's disease). Despite the decreased serum IgM level, an X-linked hyper-IgM syndrome (X-HIGM) was considered. X-HIGM is a rare immunodeficiency usually characterised by recurrent severe opportunistic infections, low serum IgG and IgA, but normal or increased serum IgM. The syndrome is caused by mutations of the CD40 ligand (CD40L) gene. In our patient, CD40L mutation analysis proved a novel mutation at codon 257 associated with non-detectable expression of CD40L on the surface of activated T cells. A literature search revealed that approximately 6.4% of X-HIGM patients had been found to have low serum IgM levels. Our statistical analysis of the IgM levels as reported by different studies arouses suspicion that many patients with low IgM levels may not have undergone diagnostic procedures for X-HIGM. In summary, in this report and critical review of the literature, we described a new mutation of CD40L and highlighted the pitfalls of the diagnosis of X-HIGM.

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“…Allogeneic BMT is an effective therapy for XHIM syndrome [35][36][37][38][39][40], the majority of cases of which is caused by CD154 mutations, leading to a lack of binding to CD40. It might be predicted that should CD154-CD40 interactions play the same role in human B cell ontogeny that we believe they play in the mouse, B cell reconstitution after BMT would be slower in these patients than in those with normal CD154 expression and protein.…”

Section: Discussionmentioning

confidence: 99%