Interferon-γ receptor deficiency mimicking Langerhans’ cell histiocytosis

Edgar, J. D. M.; Smyth, Alfred P.; Pritchard, Jon; Lammas, David A.; Jouanguy, Emmanuelle; Hague, Rosie; Novelli, Vas; Dempsey, S.; Sweeney, Louise E.; Taggart, A J; O’Hara, Denis; Casanova, Jean‐Laurent; Kumararatne, Dinakantha

doi:10.1067/mpd.2001.117068

Cited by 32 publications

(18 citation statements)

References 8 publications

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“…The genetic abnormality discovered in our patient has been only described in 2 other patients [15,16,17]. Surprisingly however, the only 2 known patients with the same defect had a milder clinical phenotype [12].…”

Section: Discussionmentioning

confidence: 89%

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Disseminated <i>Mycobacterium avium</i> Infection in a 20-Year-Old Female with Partial Recessive IFNγR1 Deficiency

Remiszewski¹,

Roszkowska-Sliz²,

Winek³

et al. 2006

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We report the case of a 20-year-old female with disseminated Mycobacterium avium disease involving bones, lungs and brain. She was completely healthy up until the present illness and had been vaccinated with BCG in infancy without complications. Mycobacteriosis progressed in spite of treatment with antituberculous drugs and was controlled only after addition of interferon-γ subcutaneously. A homozygous hypomorphic I87T mutation was found in the gene encoding the ligand-binding chain of the IFN-γ receptor (IFNγR1). This mutation is the only known recessive hypomorphic lesion in IFNGR1 and had been reported before in only 1 child with curable BCG infection and his sibling with primary tuberculosis. Our report illustrates the clinical heterogeneity of patients sharing exactly the same form of partial recessive IFNγR1 deficiency. A diagnosis of partial recessive IFNγR1 deficiency should be contemplated in adults with unexplained environmental mycobacterial diseases.

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Section: Discussionmentioning

confidence: 89%

“…The histological picture of mycobacteriosis may be very similar to LCH. Two such cases of partial dominant IFNγR1 deficiency and mycobacteriosis initially misdiagnosed as LCH have been published [15]. Only the identification of Langerhans’ cells with positive immunostaining of CD1 can confirm the diagnosis of LCH.…”

Section: Discussionmentioning

confidence: 99%

Disseminated <i>Mycobacterium avium</i> Infection in a 20-Year-Old Female with Partial Recessive IFNγR1 Deficiency

Remiszewski¹,

Roszkowska-Sliz²,

Winek³

et al. 2006

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“…Several patients with dominant partial IFNgR1 deficiency have been reported with mycobacterial osteomyelitis initially misdiagnosed as Langerhans cell histio-cytosis (LCH). 10 Our patient is the first case of recessive complete IFNgR1 deficiency who presents with a condition mimicking LCH. Whether the child had some residual IFNgR1 function that could not be detected in vitro or whether the appearance of LCH is heterogeneous and occurs in both complete and partial defects, remains to be determined.…”

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confidence: 99%

Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-γ receptor 1 deficiency

Chantrain

Bruwier

Brichard

et al. 2006

Bone Marrow Transplant

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“…The patient described in the current report by Remiszewski et al [5] adds to the 2 cases reported earlier of patients with partial dominant IFN ␥ R1 defi ciency with mycobacterial infection of bone who were misdiagnosed as LCH [22] . In all 3 cases, the lesions did not contain CD1a-positive cells.…”

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confidence: 69%