User:IntentionallyDense/List of inborn errors of immunity

This is the user sandbox of IntentionallyDense. A user sandbox is a subpage of the user's user page. It serves as a testing spot and page development space for the user and is not an encyclopedia article. Create or edit your own sandbox here.

Other sandboxes: Main sandbox | Template sandbox

Finished writing a draft article? Are you ready to request review of it by an experienced editor for possible inclusion in Wikipedia? Submit your draft for review!

Combined immunodeficiencies with associated or syndromic features

Immunodeficiency with congenital thrombocytopenia^[1]
Disease	Gene	Inheritance	T cells	B cells	Immunoglobulin	Associated features
Wiskott-Aldrich syndrome	WAS	X-linked	Progressive decrease	Normal	Low IgM and antibody responses to polysaccharides, often high IgA and IgE	Low and small platelets, eczema, recurrent bacterial/viral infections, bloody diarrhea, lymphoma, autoimmune disease, and IgA- nephropathy.
Wiskott-Aldrich syndrome protein-interacting protein (WIP) deficiency	WIPF1	Autosomal recessive	Reduced	Normal or low	High IgE	Low platelets with or without small platelets, recurrent bacterial and viral infections, eczema, and bloody diarrhea.
Arp2/3-mediated filament branching defect	ARPC1B	Autosomal recessive	Normal	Normal	High IgA and IgE	Mildly low platelets with normal-sized platelets, recurrent invasive infections; inflammation of the colon, inflammation of the blood vessels, and high eosinophils.

Other DNA repair defects^[1]
Disease	Gene	Inheritance	T cells	B cells	Immunoglobulin	Associated features
Ataxia-telangiectasia	ATM	Autosomal recessive	Progressive decrease	Normal	Variable	Ataxia, telangiectasia, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations
Nijmegen breakage syndrome	NBS1	Autosomal recessive	Progressive decrease	Variably reduced	Variable	Microcephaly, dysmorphic facies, lymphomas, solid tumors, increased radiosensitivity, chromosomal instability
Bloom Syndrome	BLM (RECQL3)	Autosomal recessive	Sometimes decreased	Normal or low	Variably low IgG and IgA	Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
Immunodeficiency with centromeric instability and facial anomalies (ICF types 1, 2, 3, and 4)	DNMT3B	Autosomal recessive	Decreased or normal	Decreased or normal	Variably low IgG and IgA	Facial dysmorphic features, developmental delay, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
	ZBTB24					Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
	CDCA7
	HELLS
PMS2 Deficiency	PMS2	Autosomal recessive	Normal	Low	Low IgG and IgA, high IgM	Recurrent infections, café-au-lait spots, lymphoma, colorectal carcinoma, brain tumors
RNF168 deficiency (Radiosensitivity, Immune Deficiency, Dysmorphic features, Learning difficulties [RIDDLE] Syndrome)	RNF168	Autosomal recessive	Normal	Normal	Low IgG or IgA	Short stature, mild defect of motor control to ataxia, normal intelligence to learning difficulties, mild facial dysmorphism to microcephaly, increased radiosensitivity
MCM4 deficiency	MCM4	Autosomal recessive	Normal	Normal	Normal	Viral infections (EBV, HSV, VZV), short stature, B cell lymphoma, adrenal failure
X-linked reticulate pigmentary disorder (POLA1 Deficiency)	POLA1	X-linked				Hyperpigmentation, characteristic facies, lung and GI involvement
POLE1 (Polymerase ε subunit 1) deficiency (FILS syndrome)	POLE1	Autosomal recessive	Decreased T cell proliferation	Low memory B cells		Recurrent respiratory infections, meningitis, facial dysmorphism, livido, short stature
POLE2 (Polymerase ε subunit 2) deficiency	POLE2	Autosomal recessive	Lymphopenia, lack of TRECS, absent proliferation in response to antigens	Very low		Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism
Ligase I deficiency	LIG1	Autosomal recessive	Lymphopenia, decreased mitogen response	Normal	Low, poor function	Recurrent respiratory infections, growth retardation, sun sensitivity, lymphoma, radiation sensitivity
NSMCE3 deficiency	NSMCE3	Autosomal recessive	Number decreased, poor response to mitogens and antigens	Normal	Normal IgG, IgA, normal to elevated IgM; decreased antibody responses to PPS	Severe lung disease (possibly viral), thymic hypoplasia, Chromosomal breakage, radiation sensitivity
Example	Example	Example	Example	Example	Example	Example

Predominantly antibody deficiencies

Diseases of immune dysregulation

Congenital defects of phagocyte number or function

Defects in intrinsic and innate immunity

Autoinflammatory disorders

Complement deficiencies

Bone marrow failure

Phenocopies of inborn errors of immunity

Referances

^ ^a ^b Tangye et al. 2022, p. 1482.

Works cited

This article incorporates text from this source, which is in the public domain: Tangye, Stuart G.; Al-Herz, Waleed; Bousfiha, Aziz; Cunningham-Rundles, Charlotte; Franco, Jose Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Oksenhendler, Eric; Picard, Capucine; Puel, Anne; Puck, Jennifer; Seppänen, Mikko R. J.; Somech, Raz; Su, Helen C.; Sullivan, Kathleen E.; Torgerson, Troy R.; Meyts, Isabelle (2022). "Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee". Journal of Clinical Immunology. 42 (7): 1473–1507. doi:10.1007/s10875-022-01289-3. ISSN 0271-9142. PMC 9244088. PMID 35748970.

[FOOTNOTETangyeAl-HerzBousfihaCunningham-Rundles20221482-1] Tangye et al. 2022, p. 1482.

[1]