Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency

Peter Olbrich; Maria Teresa Martínez-Saavedra; José Maria Perez-Hurtado; Cristina Sanchez; Berta Sanchez; Caroline Deswarte; Ignacio Obando; Jean-Laurent Casanova; Carsten Speckmann; Jacinta Bustamante; Carlos Rodriguez-Gallego; Olaf Neth

doi:10.1002/pbc.25625

Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency

Pediatr Blood Cancer. 2015 Nov;62(11):2036-9. doi: 10.1002/pbc.25625. Epub 2015 Jul 14.

Authors

Peter Olbrich¹, Maria Teresa Martínez-Saavedra², José Maria Perez-Hurtado³, Cristina Sanchez¹, Berta Sanchez⁴, Caroline Deswarte^{5

6}, Ignacio Obando¹, Jean-Laurent Casanova^{5

6

7

8

9}, Carsten Speckmann^{10

11}, Jacinta Bustamante^{5

6

8

12}, Carlos Rodriguez-Gallego^{2

13}, Olaf Neth¹

Affiliations

¹ Pediatric Infectious Diseases and Immunopathology Unit, Hospital Virgen del Rocio, Instituto de Biomedicina de Sevilla, Sevilla, Spain.
² Department of Immunology, Gran Canaria Dr. Negrín University Hospital, Las Palmas de Gran Canaria, Spain.
³ Pediatric Hematology Unit, Hospital Virgen del Rocio, Sevilla, Spain.
⁴ Department of Immunology, Hospital Virgen del Rocio, Sevilla, Spain.
⁵ Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Hospital for Sick Children, Paris, France.
⁶ Paris Descartes University, Imagine Institute, Paris, France.
⁷ Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France.
⁸ St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York.
⁹ Howard Hughes Medical Institute, New York, New York.
¹⁰ Department of Pediatrics and Adolescent Medicine, University Medical Center, Freiburg, Germany.
¹¹ Center for Chronic Immunodeficiency, University of Freiburg, Freiburg, Germany.
¹² Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Paris, France.
¹³ Department of Medical and Surgical Sciences, School of Medicine, University of Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain.

Abstract

Autosomal recessive (AR) complete Interferon-γ Receptor1 (IFN-γR1) deficiency is a rare variant of Mendelian susceptibility to mycobacterial disease (MSMD). Although hematopoietic stem cell transplantation (HSCT) remains the only curative treatment, outcomes are heterogeneous; delayed engraftment and/or graft rejection being commonly observed. This case report and literature review expands the knowledge about this rare but potentially fatal pathology, providing details regarding diagnosis, antimicrobial treatment, transplant performance, and outcome that may help to guide physicians caring for patients with AR complete IFN-γR1 or IFN-γR2 deficiency.

Keywords: atypical mycobacteria; infant; interferon gamma receptor; primary immunodeficiency; transplantation.

Publication types

Case Reports
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

MeSH terms

Allografts
Anti-Infective Agents / therapeutic use*
Child, Preschool
Genetic Diseases, Inborn / diagnosis*
Genetic Diseases, Inborn / genetics
Genetic Diseases, Inborn / therapy*
Humans
Interferon gamma Receptor
Male
Receptors, Interferon / deficiency*
Stem Cell Transplantation*

Substances

Anti-Infective Agents
Receptors, Interferon

Abstract

Publication types

MeSH terms

Substances

Grants and funding