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Specific granule deficiency 1

MONDO:0044207

Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene.

Also known as: specific granule deficiency, CEBPE specific granule deficiency, specific granule deficiency 1, specific granule deficiency caused by mutation in CEBPE, SGD1, lactoferrin-deficient neutrophils, neutrophil lactoferrin deficiency

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (680) Hereditary disease (176) Hematologic disorder (170) Immune system disorder (148) Human disease (14) Leukocyte disorder (6) Disease of genetic or genomic mechanism (2) Phagocytic cell dysfunction (1) Defective phagocytic cell engulfment (0) Disease by body system or component (0)
Trials to join now! 1
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  • Scientists seek genetic clues to mysterious immune defects

    Knowledge-focused Recruiting now

    This study looks at people with unusual or repeated infections and their family members to find the genetic and biochemical causes of immune system problems. Researchers will collect blood, saliva, urine, and other samples over time to better understand these conditions. The goal…

    Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Knowledge-focused

    Last updated Aug 18, 2026 06:00 UTC

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