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Schimke’s immuno-osseous dysplasia

Related gene: SMARCAL1

Inheritance pattern: Autosomal recessive

Schimke’s immuno-osseous dysplasia is caused by a variant in a gene responsible for chromatin remodeling (SMARCAL1). In this condition, flattened vertebrae (the bones in the spine) lead to a short neck and trunk; average adult height is 3-5 feet. Affected individuals usually present with kidney disease that often becomes severe early in life, as well as hyperpigmented skin. A low number of T cells and/or lymphocytes (lymphopenia) is frequently seen. In cases in which the lymphopenia is severe, hematopoietic stem cell transplantation (HSCT) has been attempted, with mixed results. The disorder is inherited in an autosomal recessive pattern. 

Additional features include ischemic cerebral attacks (TIAs, also known as ministrokes), migraine-like headaches, hematologic abnormalities of leucopenia, anemia, and thrombocytopenia, enteropathy, hyper-pigmented skin macules, unusual hair, and small teeth. The course of the disease varies from severe, with intrauterine or early childhood onset and death in childhood, to milder disease with survival into adulthood. For both severe and mild disease, the therapy is mainly symptomatic.

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Learn more about combined immune deficiencies.

Other primary cellular immunodeficiencies 

Some patients with less common cellular immunodeficiencies may have severe immunodeficiency with early onset and significant morbidity and mortality, while others have only mild problems. Patients with these types of deficiencies have some defect in their T-cell (cellular) immune system, resulting in a different spectrum of infection problems than those individuals with typical antibody deficiency. These include deep-seated bacterial infections, viral and fungal infections, tuberculosis, and other mycobacterial infections. Cellular immunodeficiencies are usually more difficult to treat and may need cellular reconstitution via hematopoietic stem cell transplantation or, perhaps, gene therapy.

This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.

Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition 
Copyright ©2019 by Immune Deficiency Foundation, USA