1342372000: Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Chronic disease of skin\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Skin AND/OR mucosa finding (finding)\Mucocutaneous candidiasis\Chronic mucocutaneous candidiasis (disorder)\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Chronic disease of skin\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Finding of substance level (finding)\Finding of protein level (finding)\Finding of immunoglobulin level (finding)\Immunoglobulins outside reference range\Increased immunoglobulin\Hyperimmunoglobulin E syndrome\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Measurement finding outside reference range\Measurement finding above reference range (finding)\Increased immunoglobulin\Hyperimmunoglobulin E syndrome\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Measurement finding outside reference range\Immunoglobulins outside reference range\Increased immunoglobulin\Hyperimmunoglobulin E syndrome\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Chronic disease of skin\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Genetic disease\Hyperimmunoglobulin E syndrome\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Disorder of immune function (disorder)\Chronic disease of immune function (disorder)\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Hyperimmunoglobulin E syndrome\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Disorder of body system\Mucocutaneous candidiasis\Chronic mucocutaneous candidiasis (disorder)\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Infectious disease\Chronic infectious disease\Chronic mucocutaneous candidiasis (disorder)\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Infectious disease\Mycosis (disorder)\Infection caused by Ascomycetes (disorder)\Candidiasis (disorder)\Mucocutaneous candidiasis\Chronic mucocutaneous candidiasis (disorder)\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Chronic disease\Chronic disease of immune function (disorder)\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Chronic disease\Chronic infectious disease\Chronic mucocutaneous candidiasis (disorder)\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Chronic disease\Chronic disease of skin\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5378422015	AR-HIES (autosomal recessive hyperimmunoglobulin E syndrome) due to ZNF341 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5378423013	Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5378424019	Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5378425018	Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5378426017	A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5378422015	AR-HIES (autosomal recessive hyperimmunoglobulin E syndrome) due to ZNF341 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5378423013	Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5378424019	Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5378425018	Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5378426017	A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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