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Autosomal recessive severe congenital neutropenia
- ... CONGENITAL, X-LINKED; SCNX NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE; SCN6 NEUTROPENIA, SEVERE CONGENITAL, 4, ...
- ... with bone remodeling underlie the major features of autosomal recessive osteopetrosis. More About This Health Condition MedlinePlus Genetics provides information about Severe congenital neutropenia More About This Health Condition Atp6i ATP6N1C ATP6V0A3 ...
- Immune System and Disorders/Specifics ... Immune System and Disorders ... NIAID researches congenital neutropenia syndromes, a group of rare disorders present from ...
- Primary Immune Deficiency Disease Genetics and Inheritance
(National Institute of Allergy and Infectious Diseases) Immune System and Disorders/Genetics ... Immune System and Disorders ... National Institute of Allergy and Infectious Diseases ... From the National Institutes of Health - ... study. Most often, SCID is inherited in an autosomal recessive pattern , in which both copies of a particular ... father—contain defects. The best-known form of autosomal recessive SCID is caused by adenosine deaminase (ADA) deficiency, ...
- ... deficiency. CLPB This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
- Immune System and Disorders/Specifics ... Immune System and Disorders ... National Institute of Allergy and Infectious Diseases ... From the National Institutes of Health
- ... Kingsmore SF, Ostergaard E. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic ...
- Immune System and Disorders/Specifics ... Immune System and Disorders ... DOCK8 deficiency is a rare immune disorder named after the mutated gene which NIAID scientists ...
- Resources about some of the forms of primary immune deficiency diseases (PIDDs) which NIAID is currently studying. ... Immune System and Disorders/Specifics ...
(National Institute of Allergy and Infectious Diseases) 
