Publicerad: 2024-05-13

Nya diagnoser

PIDcare är nu uppdaterat med 57 nya diagnoser.

Dessa är:

MajorCategory	Subcategory	Diagnosis	Gene	ICD10
1 Immunodeficiencies affecting cellular and humoral immunity	1 - Subtable 1 T-B+ SCID	PAX1 deficiency	PAX1	D81.2
1 Immunodeficiencies affecting cellular and humoral immunity	1 - Subtable 1 T-B+ SCID	SLP76 deficiency	SLP76	D81.2
1 Immunodeficiencies affecting cellular and humoral immunity	1 - Subtable 1 T-B+ SCID	ITPKB deficiency	ITPKB	D81.2
1 Immunodeficiencies affecting cellular and humoral immunity	1 - Subtable 3 Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency	MAN2B2 deficiency	MAN2B2	D81.9
1 Immunodeficiencies affecting cellular and humoral immunity	1 - Subtable 3 Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency	SASH3 deficiency	SASH3
1 Immunodeficiencies affecting cellular and humoral immunity	1 - Subtable 3 Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency	CHUK deficiency	CHUK
1 Immunodeficiencies affecting cellular and humoral immunity	1 - Subtable 3 Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency	IKK alfa deficiency	IKZF2
1 Immunodeficiencies affecting cellular and humoral immunity	1 - Subtable 3 Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency	COPG1 deficiency	COPG1
2 Combined immunodeficiencies with associated or syndromic features	2 - Subtable 2 DNA Repair Defects other than those listed in Table 1	MCM10 deficiency	MCM10	D81.9
2 Combined immunodeficiencies with associated or syndromic features	2 - Subtable 5 Hyper IgE Syndromes (HIES)	IL6 signal transducer (IL6DT) deficiency (partial)	IL6ST
2 Combined immunodeficiencies with associated or syndromic features	2 - Subtable 5 Hyper IgE Syndromes (HIES)	IL6ST deficiency (partial)	IL6ST
2 Combined immunodeficiencies with associated or syndromic features	2 - Subtable 8 Calcium Channel Defects	CRACR2A deficiency	CRACR2A
2 Combined immunodeficiencies with associated or syndromic features	2 - Subtable 9 Other Combined immunodeficiencies wwith syndromic features	DIAPH1 deficiency	DIAPH1
2 Combined immunodeficiencies with associated or syndromic features	2 - Subtable 9 Other Combined immunodeficiencies wwith syndromic features	AIOLOS deficiency	IKZF3
2 Combined immunodeficiencies with associated or syndromic features	2 - Subtable 9 Other Combined immunodeficiencies wwith syndromic features	CD28 deficiency	CD28
3 Predominantly Antibody Deficiencies	3 - Subtable 1 Agammaglobulinemia	FNIP1 deficiency	FNIP1	D80.0
3 Predominantly Antibody Deficiencies	3 - Subtable 1 Agammaglobulinemia	Pu.1 deficiency	SPI1
3 Predominantly Antibody Deficiencies	3 - Subtable 2 CVID Phenotype	PIK3CG deficiency	PIK3CG	D83.9
3 Predominantly Antibody Deficiencies	3 - Subtable 2 CVID Phenotype	POU2AF1 deficiency	POU2AF1
3 Predominantly Antibody Deficiencies	3 - Subtable 3 Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM	CTNNBL1 deficiency	CTNNBL1	D80.5
3 Predominantly Antibody Deficiencies	3 - Subtable 3 Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM	TNFSF13 (APRIL) deficiency	TNFSF13	D80.5
4 Diseases of Immune Dysregulation	4 - Subtable 1 Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)	RHOG deficiency	RHOG
4 Diseases of Immune Dysregulation	4 - Subtable 2 FHL Syndromes with Hypopigmentation	CEBPE neofunction	CEBPE
4 Diseases of Immune Dysregulation	4 - Subtable 3 Regulatory T Cell Defects	IKZF1 GOF	IKZF1	D81.8
4 Diseases of Immune Dysregulation	4 - Subtable 4 Autoimmunity with or without Lymphoproliferation	PD1 deficiency	PDCD1
4 Diseases of Immune Dysregulation	4 - Subtable 4 Autoimmunity with or without Lymphoproliferation	SOCS1 deficiency	SOCS1	D81.8
4 Diseases of Immune Dysregulation	4 - Subtable 5 Immune Dysregulation with Colitis	ELF4 deficiency	ELF4
4 Diseases of Immune Dysregulation	4 - Subtable 7 Susceptibility to EBV and Lymphoproliferative Conditions	TET2 deficiency	TET2	D82.3
5 Congenital defects of phagocyte number or function	5 - Subtable 1 Congenital Neutropenias	CXCR2 deficiency	CXCR2
6 Defects in intrinsic and innate immunity	6 - Subtable 1 Mendelian Susceptibility to mycobacterial disease (MSMD)	TBX21 deficiency	TBX21	D72
6 Defects in intrinsic and innate immunity	6 - Subtable 1 Mendelian Susceptibility to mycobacterial disease (MSMD)	IFN gamma deficiency	IFNG	D72
6 Defects in intrinsic and innate immunity	6 - Subtable 3 Predisposition to Severe Viral Infection	ZNFX1 deficiency	ZNFX1
6 Defects in intrinsic and innate immunity	6 - Subtable 3 Predisposition to Severe Viral Infection	NOS2 deficiency	NOS2	D89.9
6 Defects in intrinsic and innate immunity	6 - Subtable 7 TLR Signaling Pathway Deficiency with Bacterial Susceptibility	TLR7 deficiency	TLR7	D89.9
6 Defects in intrinsic and innate immunity	6 - Subtable 4 Herpes Simplex Encephalitis (HSE)	MAP1LC3B2	MAP1LC3B2	D89.9
6 Defects in intrinsic and innate immunity	6 - Subtable 4 Herpes Simplex Encephalitis (HSE)	ATG4A	ATG4A	D89.9
6 Defects in intrinsic and innate immunity	6 - Subtable 4 Herpes Simplex Encephalitis (HSE)	SNORA31 deficiency	SNORA31	D89.9
6 Defects in intrinsic and innate immunity	6 - Subtable 6 Predisposition to Mucocutaneous Candidiasis	MAPK8 deficiency	MAPK8	D89.9
6 Defects in intrinsic and innate immunity	6 - Subtable 7 TLR Signaling Pathway Deficiency with Bacterial Susceptibility	TLR8 GOF	TLR8
7 Autoinflammatory Disorders	7 - Subtable 1 Type 1 Interferonopathies	ATAD3A deficiency	ATAD3A
7 Autoinflammatory Disorders	7 - Subtable 1 Type 1 Interferonopathies	CDC42 defects	CDC42	D89.9
7 Autoinflammatory Disorders	7 - Subtable 1 Type 1 Interferonopathies	LSM11 deficiency	LSM11	D89.9
7 Autoinflammatory Disorders	7 - Subtable 1 Type 1 Interferonopathies	STING-like disease	TMEM173
7 Autoinflammatory Disorders	7 - Subtable 1 Type 1 Interferonopathies	C2orf69 deficiency	C2orf69
7 Autoinflammatory Disorders	7 - Subtable 1 Type 1 Interferonopathies	RNU7-1 deficiency	RNU7-1	D89.9
7 Autoinflammatory Disorders	7 - Subtable 1 Type 1 Interferonopathies	STAT2 R148 LOF/regulation (prevents binding to USP18)	STAT2	D89.9
7 Autoinflammatory Disorders	7 - Subtable 2 Defects Affecting the Inflammasome	RIPK1 deficiency	RIPK1
7 Autoinflammatory Disorders	7 - Subtable 3 Non-Inflammasome Related Conditions	HCK disease	HCK
7 Autoinflammatory Disorders	7 - Subtable 3 Non-Inflammasome Related Conditions	HEM1 (NCKAPIL) deficiency	NCKAPIL	K52.3
7 Autoinflammatory Disorders	7 - Subtable 3 Non-Inflammasome Related Conditions	PRAAS -like condition	PSMB9
7 Autoinflammatory Disorders	7 - Subtable 3 Non-Inflammasome Related Conditions	TBK1 disorder	TBK1	M04.8
7 Autoinflammatory Disorders	7 - Subtable 3 Non-Inflammasome Related Conditions	NEMO-NDAS	IKBKG	M04.8
7 Autoinflammatory Disorders	7 - Subtable 3 Non-Inflammasome Related Conditions	SYK disease	SYK
9 Bone marrow failure	9	EVI1, MECOM deficiency	MECOM
10 Phenocopies of PID	10 - Subtable 1 Associated with somatic mutations	VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome	Somatic mutation in UBA1 (XL)	D89.9
10 Phenocopies of PID	10 - Subtable 1 Associated with somatic mutations	TLR8 GOF	Somatic mutation in TLR8	D89.9
10 Phenocopies of PID	10 - Subtable 2 Associated with autoantibodies	Severe Covid-19	AutoAb to type 1 IFNs (IFN alfa, IFN omega)	D89.9